19. ライソゾーム病 Lysosomal storage disease Clinical trials / Disease details


臨床試験数 : 899 薬物数 : 684 - (DrugBank : 99) / 標的遺伝子数 : 51 - 標的パスウェイ数 : 182

  
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PhaseCountries
1NCT05710367
(ClinicalTrials.gov)
August 202310/1/2023Effects Of Sodium Glucose Cotranspoter 2 Inhibitors On Heart And Kidneys In Fabry Disease PatientsEffects Of Sodium Glucose Cotranspoter 2 Inhibitors On Heart And Kidneys In Fabry Disease Patients; A Prospective, Randomized, Double-Blind, Placebo- Controlled Study.Fabry DiseaseDrug: Dapagliflozin 10mg Tab;Drug: PlaceboAlbina Nowak, MDNULLNot yet recruiting18 Years70 YearsAll46Phase 2NULL
2NCT05698901
(ClinicalTrials.gov)
March 31, 202316/1/2023Biomarkers and Cardiac Imaging Diagnostic Assay for Monitoring Patients With Fabry DiseaseBiomarkers and Cardiac Imaging Diagnostic Assay for Monitoring Patients With Fabry DiseaseFabry DiseaseDrug: Agalsidase betaMackay Memorial HospitalNULLNot yet recruiting18 YearsN/AAll150NULL
3NCT05238324
(ClinicalTrials.gov)
March 20237/12/2021Safety and Efficacy of HMI-203 in ERT-Treated Adults With MPS IIA Phase 1 Open-Label Dose Escalation Study to Evaluate the Safety and Efficacy of HMI-203 in ERT-Treated Adults With Mucopolysaccharidosis Type II (MPS II) (juMPStart Trial)Mucopolysaccharidosis IIBiological: Genetic HMI-203Homology Medicines, IncNULLRecruiting18 Years45 YearsMale9Phase 1United States;Canada
4NCT05710692
(ClinicalTrials.gov)
March 202313/12/2022Study to Evaluate the Safety, PK, PD, and Efficacy of PRX-102 in Japanese Patients With Fabry DiseaseA Multicenter Open-Label Study to Evaluate the Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Pegunigalsidase Alfa (PRX-102) in Japanese Patients With Fabry Disease (RISE)Fabry DiseaseDrug: PRX-102 1 mg/kg every 2 weeks;Drug: PRX-102 2 mg/kg every 4 weeksChiesi Farmaceutici S.p.A.NULLNot yet recruiting18 Years60 YearsAll18Phase 2/Phase 3NULL
5NCT05594992
(ClinicalTrials.gov)
February 22, 20236/10/2022An Extension Study of JR-141 to Evaluate the Long-term Safety and Efficacy in Mucopolysaccharidosis Type II (Hunter Syndrome) Male SubjectsAn Extension Study of JR-141 to Evaluate the Long-term Safety and Efficacy in Mucopolysaccharidosis Type II (Hunter Syndrome) Male SubjectsMucopolysaccharidosis IIDrug: JR-141JCR Pharmaceuticals Co., Ltd.NULLEnrolling by invitationN/AN/AMale80Phase 3United States
6NCT05739643
(ClinicalTrials.gov)
February 3, 202313/2/2023Gene Transfer Clinical Trial for Infantile and Late Infantile Krabbe Disease Treated in the Past With HSCTA Phase 1b Clinical Study of Intravenous AAVrh10 Vector Expressing GALC in Krabbe Subjects Who Previously Received Hematopoietic Stem Cell Transplantation (REKLAIM)Krabbe DiseaseBiological: FBX-101Forge Biologics, IncNULLRecruitingN/AN/AAll12Phase 1/Phase 2United States
7NCT05665166
(ClinicalTrials.gov)
February 20237/12/2022Autologous Ex-vivo Gene Modified HSCT in MPSIIA Phase I/II, Study of Autologous CD34+ Haematopoietic Stem Cells Transduced ex Vivo With CD11B Lentiviral Vector Encoding Human IDS Tagged With ApoEII in Patients With Neuronopathic Mucopolysaccharidosis Type II (nMPS II, Hunters Syndrome)Mucopolysaccharidosis IIGenetic: Autologous CD34+ HSCs transduced ex vivo with CD11B LV encoding human IDS tagged with ApoEIIUniversity of ManchesterManchester University NHS Foundation Trust;AVROBIO;CTI Clinical Trial and Consulting Services;Great Ormond Street Hospital for Children NHS Foundation TrustNot yet recruiting3 Months12 MonthsMale5Phase 1/Phase 2NULL
8NCT05682144
(ClinicalTrials.gov)
January 15, 202312/12/2022ISP-001: Sleeping Beauty Transposon-Engineered B Cells for MPS IA Phase I Open Label Study to Evaluate the Safety and Tolerability of ISP-001 in Adult Patients With Mucopolysaccharidosis Type I Hurler-Scheie and ScheieMucopolysaccharidosis IH/S;Mucopolysaccharidosis ISBiological: Autologous Plasmablasts (B cells)Immusoft CorporationNULLNot yet recruiting18 YearsN/AAll2Phase 1United States
9NCT05529992
(ClinicalTrials.gov)
January 3, 20232/9/2022A Study of Velaglucerase Alfa (VPRIV) in Chinese Children, Teenagers, and Adults With Type 1 Gaucher DiseaseA Multicenter, Open-label Study to Evaluate the Safety, Efficacy, and Pharmacokinetics of Velaglucerase Alfa in Chinese Subjects With Type 1 Gaucher DiseaseGaucher DiseaseDrug: Velaglucerase AlfaTakedaNULLRecruiting2 YearsN/AAll20Phase 3China
10EUCTR2021-002550-82-NL
(EUCTR)
22/12/202230/07/2022Effectiveness of ambroxol for treating children and adults with Gaucher disease type 3Effectiveness of ambroxol in children and adults with Gaucher disease 3: n-of-1 series - ATTACK-GD3 Gaucher disease type 3
MedDRA version: 20.0;Level: HLGT;Classification code 10027424;Term: Metabolic and nutritional disorders congenital;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Ambroxol hydrochloride
INN or Proposed INN: AMBROXOL Hydrochloride
Other descriptive name: Mucoangin
Product Name: Ambroxol hydrochloride
INN or Proposed INN: AMBROXOL HYDROCHLORIDE
Other descriptive name: AMBROXOL HYDROCHLORIDE PH. EUR.
Amsterdam UMCNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
4Phase 3Netherlands
11NCT05487599
(ClinicalTrials.gov)
December 20, 20221/6/2022A Clinical Trial of PR001 (LY3884961) in Patients With Peripheral Manifestations of Gaucher Disease (PROCEED)An Open-label, Dose-Finding, Phase 1/2 Study to Evaluate the Safety and Tolerability of a Single Intravenous Dose of LY3884961 in Patients With Peripheral Manifestations of Gaucher Disease (PROCEED)Gaucher DiseaseBiological: LY3884961;Drug: Methylprednisolone;Drug: Sirolimus;Drug: PrednisonePrevail TherapeuticsEli Lilly and CompanyRecruiting18 Years50 YearsAll15Phase 1/Phase 2United States
12EUCTR2022-002762-33-DE
(EUCTR)
12/12/202221/09/2022Phase3B/4 extension study to Further Evaluate Safety, Tolerability and Efficacy of AX 250 in Patients with MPS Type IIIBA Phase 3B/4 Open-Label Multicenter Study Extension Study to Further Evaluate Safety, Tolerability and Efficacy of Intracerebroventricular AX 250 Treatment in Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) Patients Mucopolysaccharidosis Type IIIB (Sanfilippo Syndrome Type B, MPS IIIB)
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: N/A
Product Code: AX 250
INN or Proposed INN: Tralesinidase alfa
Other descriptive name: rhNAGLU-IGF2
Allievex CorporationNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
15Phase 3;Phase 4Turkey;Colombia;Germany;United Kingdom;United States
13NCT05492799
(ClinicalTrials.gov)
December 2, 20225/8/2022Safety, Tolerability and Efficacy of ICV AX 250 Treatment in MPS IIIB -OLEOpen-Label Multicenter Extension Study to Further Evaluate Safety, Tolerability and Efficacy of Intracerebroventricular AX 250 Treatment in Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) PatientsMPS III BDrug: AX 250Allievex CorporationNULLEnrolling by invitationN/AN/AAll15Phase 4United States;Colombia;Germany;Turkey;United Kingdom
14NCT04637282
(ClinicalTrials.gov)
December 1, 20224/11/2020Safety, Tolerability, and Efficacy of PLX-200 in Patients With CLN3A Randomized. Multicenter, Double-Blind, Placebo-Controlled Safety, Tolerability, and Efficacy Study of PLX-200 in Participants With Mild-to-Moderate Juvenile Neuronal Ceroid Lipofuscinosis (CLN3) DiseaseJuvenile Neuronal Ceroid LipofuscinosisDrug: PLX-200;Drug: PlaceboPolaryx Therapeutics, Inc.NULLNot yet recruiting6 Years18 YearsAll39Phase 3NULL
15NCT04284254
(ClinicalTrials.gov)
December 202211/11/2019MT2018-18: Sleeping Beauty Transposon-Engineered Plasmablasts for Hurler Syndrome Post Allo HSCTSleeping Beauty Transposon-Engineered Plasmablasts for Expression and Delivery of Alpha-L-iduronidase in Patients With Hurler Syndrome That Have Previously Undergone Allogeneic TransplantationMucopolysaccharidosis Type IH (MPS IH, Hurler Syndrome);Mucopolysaccharidosis Type IH;MPS IH, Hurler SyndromeDrug: Autologous PlasmablastsMasonic Cancer Center, University of MinnesotaNULLWithdrawn3 Years8 YearsAll0Phase 1/Phase 2NULL
16NCT05634512
(ClinicalTrials.gov)
November 17, 202222/11/2022Evaluation of Intravenous Laronidase Pharmacokinetics Before and After Hematopoietic Cell Transplantation in Patients With Mucopolysaccharidosis Type IH.Evaluation of Intravenous Laronidase Pharmacokinetics Before and After Hematopoietic Cell Transplantation in Patients With Mucopolysaccharidosis Type IH.Hematopoietic Cell Transplantation;Mucopolysaccharidosis Type IDrug: Laronidase therapy and a stem cell transplantMasonic Cancer Center, University of MinnesotaNULLEnrolling by invitation0 Years3 YearsAll24United States
17NCT05067868
(ClinicalTrials.gov)
November 1, 202224/9/2021A Study of Replagal in Children and Adults With Fabry Disease in IndiaA Prospective, Open-label, Multicentre, Interventional, Single-arm, Phase IV Study to Evaluate the Safety and Efficacy of Agalsidase Alfa (r-DNA Origin) (Replagal™) in Indian Children and Adults With Fabry DiseaseFabry DiseaseBiological: ReplagalShireNULLRecruitingN/AN/AAll5Phase 4India
18NCT04020055
(ClinicalTrials.gov)
October 31, 202224/6/2019A Study to Evaluate Migalastat in Fabry Subjects With Amenable GLA Variant and Renal DiseaseAn Open-label Study to Evaluate the Safety and Pharmacokinetics of Migalastat HCl in Subjects With Fabry Disease and Amenable GLA Variants and Severe Renal Impairment or End-Stage Renal Disease Treated With HemodialysisFabry DiseaseDrug: migalastat HCl 150 mgAmicus TherapeuticsNULLRecruiting18 YearsN/AAll14Phase 3United States;Australia;France;Japan;Spain;Belgium;Italy;United Kingdom
19NCT05629559
(ClinicalTrials.gov)
October 16, 20224/11/20224D-310 in Adults With Fabry Disease and Cardiac InvolvementAn Open-Label, Phase 1/2a Trial of Gene Therapy 4D-310 in Adults With Fabry Disease and Cardiac InvolvementFabry DiseaseBiological: 4D-3104D Molecular TherapeuticsNULLActive, not recruiting18 YearsN/AAll18Phase 1/Phase 2Australia;Taiwan
20EUCTR2018-004689-32-FI
(EUCTR)
12/10/202217/08/2021Study to Evaluate the Efficacy and Safety of REPLAGAL® in Treatment-naïve Subjects with Fabry DiseaseA Phase 3, Open-label Study to Evaluate the Efficacy and Safety of REPLAGAL® in Treatment-naïve Subjects with Fabry Disease REPLAGAL is intended for use for patients with Fabry disease.
MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Trade Name: REPLAGAL ®
Product Name: REPLAGAL
Product Code: SHP675
INN or Proposed INN: AGALSIDASE ALFA
Other descriptive name: Gene Activated a-Galactosidase A
Shire Human Genetic Therapies, Inc.NULLNot RecruitingFemale: yes
Male: yes
45Phase 3Portugal;Slovenia;Greece;Finland;Spain;Ukraine;Italy;Hungary;Canada;Argentina;Poland;Brazil;Belgium;Romania;Croatia;Australia;Latvia;Germany;Sweden;Bosnia and Herzegovina
21NCT05422482
(ClinicalTrials.gov)
September 20, 202231/5/2022A Study to Evaluate the Safety, Tolerability, PK and PD of Intracerebroventricular GC1123 in Patients With MPS ?Phase 1, Open-Label, Ascending Dose Study to Evaluate the Safety, Tolerability, PK and PD of Intracerebroventricular GC1123 in Patients With MPS ? Who Have Central Nervous System Involvement and Are Receiving Treatment With Intravenous DrugMucopolysaccharidosis II;Hunter SyndromeBiological: GC1123GC Biopharma CorpNULLRecruiting18 Months18 YearsAll12Phase 1Korea, Republic of
22EUCTR2021-005200-35-CZ
(EUCTR)
05/08/202224/05/2022Study to determine effectiveness and safety of DNL310 vs Idursulfase in Pediatric Participants With Neuronopathic or Non-Neuronopathic Hunter SyndromeA Phase 2/3, Multicenter, Double-Blind, Randomized Study to Determine the Efficacy and Safety of DNL310 vs Idursulfase in Pediatric Participants With Neuronopathic or Non-Neuronopathic Mucopolysaccharidosis Type II Mucopolysaccharidosis Type II [MPS II];Therapeutic area: Diseases [C] - Nervous System Diseases [C10]Product Name: DNL310
Product Code: DNL310
INN or Proposed INN: DNL310
Other descriptive name: IDURONATE-2-SULFATASE FUSED TO A FC POLYPEPTIDE THAT BINDS TO THE HUMAN TRANSFERRIN RECEPTOR
Trade Name: Idursulfase (Elaprase)
Product Name: idursulfase (ELAPRASE)
INN or Proposed INN: Idursulfase
Other descriptive name: Purified form of the lysosomal enzyme iduronate-2-sulfatase
Denali Therapeutics Inc.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
54Phase 2;Phase 3Colombia;Argentina;United States;Czechia;United Kingdom;Spain;Canada;Czech Republic;Sweden;Netherlands;Turkey;Belgium;Brazil;Mexico;Italy;Australia;France;Germany
23NCT05371613
(ClinicalTrials.gov)
July 21, 20229/5/2022A Study to Determine the Efficacy and Safety of DNL310 vs Idursulfase in Pediatric Participants With Neuronopathic (nMPS II) or Non-Neuronopathic Mucopolysaccharidosis Type II (nnMPS II)A Phase 2/3, Multicenter, Double-Blind, Randomized Study to Determine the Efficacy and Safety of DNL310 vs Idursulfase in Pediatric Participants With Neuronopathic or Non-Neuronopathic Mucopolysaccharidosis Type IIMucopolysaccharidosis IIDrug: DNL310;Drug: IdursulfaseDenali Therapeutics Inc.NULLRecruiting2 Years16 YearsAll54Phase 2/Phase 3United States;Belgium;Canada;Czechia;France;Germany;Netherlands;Spain;Sweden;United Kingdom
24JPRN-jRCT2071220022
14/07/202225/06/2022A study to evaluate the effect of venglustat tablets on left ventricular mass index in male and female adult participants with Fabry diseaseA randomized, open-label, parallel-group, 18-month Phase 3 study to evaluate the effect of venglustat compared with usual standard of care on left ventricular mass index in participants with Fabry disease and left ventricular hypertrophy Fabry's diseaseDrug: Venglustat (GZ402671)
Pharmaceutical form: Tablet, Route of administration: Oral
Drug: Agalsidase alfa
Pharmaceutical form: Concentrate for solution for infusion, Route of administration: IV infusion
Drug: Agalsidase beta (GZ419828)
Pharmaceutical form: Powder for concentrate for solution for infusion, Route of administration: IV infusion
Drug: Migalastat
Pharmaceutical form: Hard capsules, Route of administration: Oral
Tanaka TomoyukiNULLRecruiting>= 18age old<= 65age oldBoth90Phase 3China;Italy;Republic of Korea;Japan
25NCT05163288
(ClinicalTrials.gov)
June 30, 20226/12/2021A Pivotal Study of N-Acetyl-L-Leucine on Niemann-Pick Disease Type CEffects of N-Acetyl-L-Leucine on Niemann-Pick Disease Type C (NPC): A Phase III, Randomized, Placebo-controlled, Double-blind, Crossover StudyNiemann-Pick Disease, Type CDrug: N-Acetyl-L-Leucine;Other: PlaceboIntraBio IncNULLActive, not recruiting4 YearsN/AAll53Phase 3United States;Australia;Czechia;Germany;Netherlands;Slovakia;Switzerland;United Kingdom
26EUCTR2021-002320-20-NL
(EUCTR)
21/06/202216/03/2022A study to evaluate the effect of venglustat tablets on left ventricular mass index in male and female adult participants with Fabry diseaseA randomized, open-label, parallel-group, 18-month Phase 3 study to evaluate the effect of venglustat compared with usual standard of care on left ventricular mass index in participants with Fabry disease and left ventricular hypertrophy - CARAT Fabry’s disease
MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Venglustat
Product Code: SAR402671, GZ402671 or GZ/SAR402671
INN or Proposed INN: Venglustat malate
Other descriptive name: GZ/SAR402671
Trade Name: Replagal
INN or Proposed INN: Agalsidase alfa
Trade Name: Fabrazyme
INN or Proposed INN: Agalsidase beta
Trade Name: Galafold
INN or Proposed INN: Migalastat
Other descriptive name: Galafold
sanofi-aventis recherche et développementNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
110Phase 3United States;Czechia;Taiwan;Greece;Spain;Turkey;Austria;United Kingdom;Italy;France;Canada;Poland;Denmark;Norway;Netherlands;Germany;China;Japan;Korea, Republic of
27NCT04820361
(ClinicalTrials.gov)
June 15, 20228/12/2020Effect of Cannabinoids on Pain in Fabry Disease PatientsEffect of Cannabinoids on Pain in Fabry Disease Patients; a Prospective, Randomized, Double-blind, Placebo-controlled, Crossover, Multicenter StudyPain, NeuropathicDrug: Cannabis sativa L., folium cum flore;Drug: PlaceboAlbina Nowak, MDSwiss National Science FoundationNot yet recruiting18 Years70 YearsAll22N/ANULL
28NCT05359276
(ClinicalTrials.gov)
June 10, 202228/4/2022Data Analysis of Adult and Pediatric Participants With Acid Sphingomyelinase Deficiency (ASMD) on Early Access to Olipudase Alfa in FranceAcid Sphingomyelinase Deficiency (ASMD): Data Analysis of Adult and Pediatric Patients on Early Access to Olipudase Alfa in FranceAcid Sphingomyelinase Deficiency (ASMD)Drug: Olipudase alfaSanofiNULLRecruitingN/AN/AAll55France
29EUCTR2020-003200-14-DE
(EUCTR)
16/05/202215/06/2021A Phase III study of JR-141 in Hunter Syndrome patientsA Phase III study of JR-141 in Mucopolysaccharidosis type II (Hunter Syndrome) patients. Mucopolysaccharidosis type II
MedDRA version: 20.1;Level: PT;Classification code 10056889;Term: Mucopolysaccharidosis II;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Pabinafusp alfa
Product Code: JR-141
INN or Proposed INN: Pabinafusp alfa
Other descriptive name: JR-141
JCR Pharmaceuticals Co., Ltd.NULLAuthorised-recruitment may be ongoing or finishedFemale: no
Male: yes
50Phase 3France;United States;Brazil;Germany;United Kingdom
30EUCTR2021-002320-20-DK
(EUCTR)
05/05/202212/11/2021A study to evaluate the effect of venglustat tablets on left ventricular mass index in male and female adult participants with Fabry diseaseA randomized, open-label, parallel-group, 18-month Phase 3 study to evaluate the effect of venglustat compared with usual standard of care on left ventricular mass index in participants with Fabry disease and left ventricular hypertrophy - CARAT Fabry’s disease
MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Venglustat
Product Code: SAR402671, GZ402671 or GZ/SAR402671
INN or Proposed INN: Venglustat malate
Other descriptive name: GZ/SAR402671
Trade Name: Replagal
INN or Proposed INN: Agalsidase alfa
Trade Name: Fabrazyme
INN or Proposed INN: Agalsidase beta
Trade Name: Galafold
INN or Proposed INN: Migalastat
sanofi-aventis recherche et développementNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
110Phase 3United States;Czechia;Taiwan;Greece;Spain;Turkey;Austria;United Kingdom;Italy;France;Canada;Poland;Denmark;Germany;Netherlands;Norway;China;Japan;Korea, Republic of
31EUCTR2020-003200-14-FR
(EUCTR)
04/05/202217/06/2021A Phase III study of JR-141 in Hunter Syndrome patientsA Phase III study of JR-141 in Mucopolysaccharidosis type II (Hunter Syndrome) patients. Mucopolysaccharidosis type II
MedDRA version: 20.1;Level: PT;Classification code 10056889;Term: Mucopolysaccharidosis II;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Pabinafusp alfa
Product Code: JR-141
INN or Proposed INN: Pabinafusp alfa
Other descriptive name: JR-141
JCR Pharmaceuticals Co., Ltd.NULLAuthorised-recruitment may be ongoing or finishedFemale: no
Male: yes
50Phase 3United States;France;Brazil;Germany;United Kingdom
32NCT05280548
(ClinicalTrials.gov)
May 3, 20224/3/2022A Study to Evaluate the Effect of Venglustat Tablets on Left Ventricular Mass Index in Male and Female Adult Participants With Fabry DiseaseA Randomized, Open-label, Parallel-group, 18-month Phase 3 Study to Evaluate the Effect of Venglustat Compared With Usual Standard of Care on Left Ventricular Mass Index in Participants With Fabry Disease and Left Ventricular HypertrophyFabry's DiseaseDrug: Venglustat (GZ402671);Drug: Agalsidase alfa;Drug: Agalsidase beta (GZ419828);Drug: MigalastatGenzyme, a Sanofi CompanyNULLRecruiting18 Years65 YearsAll90Phase 3China;Czechia;Greece;Italy;Japan;Korea, Republic of;Netherlands;Norway;Spain;Taiwan;Turkey
33EUCTR2019-004645-32-DE
(EUCTR)
25/04/202217/12/2021A Long-term Follow-up Study of Fabry Disease Subjects Treated with FLT190 (MARVEL 2)A Multicenter, Long-term, Follow-up Study to Investigate the Safety and Durability of Response Following Dosing of an Adeno-associated Viral Vector (FLT190) in Subjects with Fabry Disease - Marvel 2 Fabry disease
MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: FLT190
Product Code: FLT190
INN or Proposed INN: NA
Other descriptive name: FLT190
Freeline Therapeutics LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: no
Male: yes
50Phase 2France;United States;Denmark;Austria;Norway;Germany;United Kingdom;Italy
34EUCTR2021-002350-90-AT
(EUCTR)
22/04/202228/10/2021A study to evaluate the effect of venglustat tablets on neuropathic and abdominal pain in male and female adult participants with Fabry diseaseA randomized, double-blind, placebo-controlled, 12 month Phase 3 study to evaluate the effect of venglustat on neuropathic and abdominal pain in male and female adults with Fabry disease who are treatment-naïve or untreated for at least 6 months
MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Venglustat
Product Code: SAR402671, GZ402671 or GZ/SAR402671
INN or Proposed INN: Venglustat malate
Other descriptive name: GZ/SAR402671
Sanofi-Aventis Recherche & DéveloppementNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
140Phase 3Greece;Finland;Ukraine;Turkey;Austria;Russian Federation;United Kingdom;Italy;France;Mexico;Canada;Argentina;Poland;Brazil;Romania;Denmark;Bulgaria;Norway;Netherlands;Germany;China
35NCT05058391
(ClinicalTrials.gov)
April 21, 202224/9/2021A Study of Elaprase in Children and Adults With Hunter Syndrome (Mucopolysaccharidosis II) in IndiaA Prospective, Multicenter, Single-arm, Open-label, Interventional Phase IV Study to Evaluate the Safety and Efficacy of Idursulfase (r-DNA Origin) (Elaprase™) in Indian Pediatric and Adult Population With Hunter Syndrome (Mucopolysaccharidosis II)Hunter SyndromeBiological: ElapraseShireNULLRecruitingN/AN/AAll5Phase 4India
36NCT05222906
(ClinicalTrials.gov)
April 18, 202220/1/2022Study to Evaluate the Efficacy and Safety of Venglustat in Adult and Pediatric Patients With Gaucher Disease Type 3A Phase 3, Multicenter, Multinational, Randomized, Double-blind, Double-dummy, Active-comparator Study to Evaluate the Efficacy and Safety of Venglustat in Adult and Pediatric Patients With Gaucher Disease Type 3 (GD3) Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ERT)Gaucher's Disease Type IIIDrug: Venglustat;Drug: imigluceraseGenzyme, a Sanofi CompanyNULLRecruiting12 YearsN/AAll40Phase 3United States;Argentina;Canada;China;France;Germany;Hungary;Japan
37NCT05324943
(ClinicalTrials.gov)
April 15, 202228/2/2022A Gene Therapy Study in Patients With Gaucher Disease Type 1A Phase 1/2, Open-label, Safety, Tolerability, and Efficacy Study of FLT201 in Adult Patients With Gaucher Disease Type 1 (GALILEO-1)Gaucher Disease, Type 1Genetic: FLT201Freeline TherapeuticsNULLRecruiting18 YearsN/AAll18Phase 1/Phase 2Argentina;Brazil;Germany;Israel;Paraguay;Spain;United Kingdom;Italy;Tunisia
38EUCTR2021-002320-20-PL
(EUCTR)
12/04/202211/01/2022A study to evaluate the effect of venglustat tablets on left ventricular mass index in male and female adult participants with Fabry diseaseA randomized, open-label, parallel-group, 18-month Phase 3 study to evaluate the effect of venglustat compared with usual standard of care on left ventricular mass index in participants with Fabry disease and left ventricular hypertrophy - CARAT Fabry’s disease
MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Venglustat
Product Code: SAR402671, GZ402671 or GZ/SAR402671
INN or Proposed INN: Venglustat malate
Other descriptive name: GZ/SAR402671
Trade Name: Replagal
INN or Proposed INN: Agalsidase alfa
Trade Name: Fabrazyme
INN or Proposed INN: Agalsidase beta
Trade Name: Galafold
INN or Proposed INN: Migalastat
sanofi-aventis recherche et développementNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
110Phase 3United States;Czechia;Taiwan;Greece;Spain;Turkey;Austria;United Kingdom;Italy;France;Czech Republic;Canada;Poland;Denmark;Norway;Netherlands;Germany;China;Japan;Korea, Republic of
39EUCTR2021-002320-20-NO
(EUCTR)
11/04/202212/10/2021A study to evaluate the effect of venglustat tablets on left ventricular mass index in male and female adult participants with Fabry diseaseA randomized, open-label, parallel-group, 18-month Phase 3 study to evaluate the effect of venglustat compared with usual standard of care on left ventricular mass index in participants with Fabry disease and left ventricular hypertrophy Fabry’s disease
MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Venglustat
Product Code: SAR402671, GZ402671 or GZ/SAR402671
INN or Proposed INN: Venglustat malate
Other descriptive name: GZ/SAR402671
Trade Name: Replagal
INN or Proposed INN: Agalsidase alfa
Trade Name: Fabrazyme
INN or Proposed INN: Agalsidase beta
Trade Name: Galafold
INN or Proposed INN: Migalastat
sanofi-aventis recherche et développementNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
110Phase 3United States;Czechia;Taiwan;Greece;Spain;Turkey;Austria;United Kingdom;Italy;France;Canada;Poland;Denmark;Netherlands;Norway;Germany;China;Japan;Korea, Republic of
40EUCTR2021-005356-10-NL
(EUCTR)
08/04/202218/01/2022A pivotal study of N-Acetyl-L-Leucine on Niemann-Pick disease type CEffects of N-Acetyl-L-Leucine on Niemann-Pick disease type C (NPC): A Phase III, randomized, placebo-controlled, double-blind, crossover study Niemann-Pick Disease type C (NPC)
MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: N-acetyl-L-leucine
Product Code: IB1001
INN or Proposed INN: N-Acetyl-L Leucine
Other descriptive name: 2(S)-(ACETYLAMINO)-4-METHYLPENTANOIC ACID
IntraBio LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
53Phase 3United States;Czechia;Slovakia;Spain;Australia;Germany;Netherlands;United Kingdom;Switzerland
41EUCTR2021-002350-90-FI
(EUCTR)
01/04/202206/10/2021A study to evaluate the effect of venglustat tablets on neuropathic and abdominal pain in male and female adult participants with Fabry diseaseA randomized, double-blind, placebo-controlled, 12 month Phase 3 study to evaluate the effect of venglustat on neuropathic and abdominal pain in male and female adults with Fabry disease who are treatment-naïve or untreated for at least 6 months - PERIDOT
MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Venglustat
Product Code: SAR402671, GZ402671 or GZ/SAR402671
INN or Proposed INN: Venglustat malate
Other descriptive name: GZ/SAR402671
Sanofi-Aventis Recherche & DéveloppementNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
140Phase 3Greece;Finland;Ukraine;Turkey;Austria;Russian Federation;United Kingdom;Italy;France;Mexico;Canada;Argentina;Poland;Brazil;Romania;Denmark;Bulgaria;Norway;Netherlands;Germany;China
42EUCTR2019-000667-24-IT
(EUCTR)
28/03/202223/09/2021A Phase I/II Study to Assess the Safety and Tolerability of ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy, in Subjects with Fabry DiseaseA Phase I/II, Multicenter, Open-Label, SingleDose, Dose-Ranging Study to Assess the Safety and Tolerability of ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy in Subjects with Fabry Disease - STAAR Fabry Disease (X-linked lysosomal storage disease)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Recombinant Adeno-associated virus 2/6 vector encoding the cDNA for human alpha galactosidase A
Product Code: [ST-920]
Other descriptive name: Adeno-associated virus serotype 2/6 encoding human alpha-galactosidase A cDNA
Trade Name: PARACETAMOLO DOC GENERICI - 1000 MG COMPRESSA 16 COMPRESSE
Product Name: Paracetamolo
Product Code: [Paracetamolo]
INN or Proposed INN: PARACETAMOLO
Trade Name: ALISERIN - 25 MG GRANULATO EFFERVESCENTE 20 BUSTINE
Product Name: difenidramina cloridrato
Product Code: [difenidramina cloridrato]
INN or Proposed INN: DIFENIDRAMINA CLORIDRATO
Trade Name: PREDNISONE DOC GENERICI - 5 MG COMPRESSE 10 COMPRESSE IN BLISTER PVC-PVDC/ALU
Product Name: Prednisone
Product Code: [Prednisone]
INN or Proposed INN: PREDNISONE
Sangamo Therapeutics, Inc.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
48Phase 1;Phase 2United States;Taiwan;Canada;Australia;Germany;United Kingdom;Italy
43EUCTR2021-005402-10-DE
(EUCTR)
23/03/202205/01/2022Study to evaluate the efficacy and safety of venglustat in adult and pediatric patients with Gaucher disease Type 3A phase 3, multicenter, multinational, randomized, double-blind, double-dummy, active-comparator study to evaluate the efficacy and safety of venglustat in adult and pediatric patients with Gaucher disease Type 3 (GD3) who have reached therapeutic goals with Enzyme Replacement Therapy (ERT) - LEAP2MONO Gaucher's disease type III
MedDRA version: 24.1;Level: PT;Classification code 10075699;Term: Gaucher's disease type III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: venglustat
Product Code: SAR402671, GZ402671 or GZ / SAR402671
INN or Proposed INN: Venglustat malate
Other descriptive name: GZ/SAR402671
Product Name: venglustat
Product Code: SAR402671, GZ402671 or GZ / SAR402671
INN or Proposed INN: Venglustat malate
Other descriptive name: GZ/SAR402671
Trade Name: Cerezyme 400 Units Powder for concentrate for solution for infusion
INN or Proposed INN: Imiglucerase
Sanofi-aventis recherche & développementNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
2Phase 3Brazil;Germany;China;United States;Taiwan;Turkey;United Kingdom;Egypt;France;Hungary;Canada;Argentina;Japan
44EUCTR2021-005356-10-SK
(EUCTR)
15/03/202228/12/2021A pivotal study of N-Acetyl-L-Leucine on Niemann-Pick disease type CEffects of N-Acetyl-L-Leucine on Niemann-Pick disease type C (NPC): A Phase III, randomized, placebo-controlled, double-blind, crossover study Niemann-Pick Disease type C (NPC)
MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: N-acetyl-L-leucine
Product Code: IB1001
INN or Proposed INN: N Acetyl L leucine
Other descriptive name: 2(S)-(ACETYLAMINO)-4-METHYLPENTANOIC ACID
IntraBio LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
53Phase 3United States;Czechia;Czech Republic;Slovakia;Australia;Germany;Netherlands;United Kingdom;Switzerland
45NCT05206773
(ClinicalTrials.gov)
March 11, 202220/10/2021A Study to Evaluate the Effect of Venglustat Tablets on Neuropathic and Abdominal Pain in Male and Female Adult Participants With Fabry DiseaseA Randomized, Double-blind, Placebo-controlled, 12-month Phase 3 Study to Evaluate the Effect of Venglustat on Neuropathic and Abdominal Pain in Male and Female Adults With Fabry Disease Who Are Treatment-naïve or Untreated for at Least 6 MonthsFabry DiseaseDrug: Venglustat (GZ402671);Drug: PlaceboGenzyme, a Sanofi CompanyNULLRecruiting18 YearsN/AAll114Phase 3United States;Argentina;Brazil;Canada;China;Finland;Germany;Greece;Italy;Japan;Mexico;Norway;Poland;United Kingdom
46EUCTR2021-002350-90-PL
(EUCTR)
08/03/202228/10/2021A study to evaluate the effect of venglustat tablets on neuropathic and abdominal pain in male and female adult participants with Fabry diseaseA randomized, double-blind, placebo-controlled, 12 month Phase 3 study to evaluate the effect of venglustat on neuropathic and abdominal pain in male and female adults with Fabry disease who are treatment-naïve or untreated for at least 6 months - PERIDOT
MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Venglustat
Product Code: SAR402671, GZ402671 or GZ/SAR402671
INN or Proposed INN: Venglustat malate
Other descriptive name: GZ/SAR402671
Sanofi-Aventis Recherche & DéveloppementNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
140Phase 3France;Mexico;Canada;Greece;Finland;Ukraine;Turkey;Austria;Russian Federation;United Kingdom;Italy;Argentina;Poland;Brazil;Romania;Denmark;Bulgaria;Norway;Netherlands;Germany;China
47EUCTR2021-005356-10-DE
(EUCTR)
04/03/202229/12/2021A pivotal study of N-Acetyl-L-Leucine on Niemann-Pick disease type CEffects of N-Acetyl-L-Leucine on Niemann-Pick disease type C (NPC): A Phase III, randomized, placebo-controlled, double-blind, crossover study Niemann-Pick Disease type C (NPC);Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]Product Name: N-acetyl-L-leucine
Product Code: IB1001
INN or Proposed INN: N-Acetyl-L-Leucine
Other descriptive name: 2(S)-(ACETYLAMINO)-4-METHYLPENTANOIC ACID
IntraBio LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
53Phase 3United States;Czechia;Czech Republic;Slovakia;Spain;Australia;Netherlands;Germany;United Kingdom;Switzerland
48NCT04771416
(ClinicalTrials.gov)
February 24, 202223/2/2021Study of Safety, Tolerability and Efficacy of PBKR03 in Pediatric Subjects With Early Infantile Krabbe DiseaseA Phase 1/2 Open-Label, Multicenter Dose-Ranging and Confirmatory Study to Assess the Safety, Tolerability and Efficacy of PBKR03 Administered to Pediatric Subjects With Early Infantile Krabbe Disease (Globoid Cell Leukodystrophy)Leukodystrophy, Globoid CellBiological: PBKR03Passage Bio, Inc.NULLActive, not recruiting1 Month9 MonthsAll24Phase 1/Phase 2United States;Brazil;Canada;Israel;Netherlands;United Kingdom
49NCT04573023
(ClinicalTrials.gov)
February 14, 202217/9/2020A Phase III Study of JR-141 in Patients With Mucopolysaccharidosis IIA Phase III Study of JR-141 in Patients With Mucopolysaccharidosis IIMucopolysaccharidosis IIDrug: JR-141;Drug: Idursulfase;Drug: JR-141 or IdursulfaseJCR Pharmaceuticals Co., Ltd.NULLRecruitingN/AN/AMale80Phase 3United States;Brazil;France;Germany;Spain
50NCT05228145
(ClinicalTrials.gov)
January 31, 202217/12/2021Gene Therapy Study for Children With CLN5 Batten DiseaseA Phase 1/2 Intracerebroventricular and Intravitreal Administration of NGN-101 for Treatment of Neuronal Ceroid Lipofuscinosis (NCL) Subtype 5 (CLN5) DiseaseNeuronal Ceroid Lipofuscinosis CLN5Genetic: NGN-101Neurogene Inc.NULLRecruiting3 Years9 YearsAll6Phase 1/Phase 2United States;United Kingdom
51NCT04283227
(ClinicalTrials.gov)
January 17, 202213/2/2020OTL-200 in Patients With Late Juvenile Metachromatic Leukodystrophy (MLD)An Open Label, Non-randomized Trial to Evaluate the Safety and Efficacy of a Single Infusion of OTL-200 in Patients With Late Juvenile (LJ) Metachromatic Leukodystrophy (MLD).Lysosomal Storage Diseases;Metachromatic LeukodystrophyGenetic: OTL-200Orchard TherapeuticsOspedale San RaffaeleRecruitingN/AN/AAll6Phase 3Italy
52EUCTR2021-002320-20-IT
(EUCTR)
14/01/202222/10/2021A study to evaluate the effect of venglustat tablets on left ventricular mass index in male and female adult participants with Fabry diseaseA randomized, open-label, parallel-group, 18-month Phase 3 study to evaluate the effect of venglustat compared with usual standard of care on left ventricular mass index in participants with Fabry disease and left ventricular hypertrophy - . Fabry's disease
MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Trade Name: Fabrazyme
Product Name: .
Product Code: [.]
INN or Proposed INN: AGALSIDASI BETA
Trade Name: Galafold
Product Name: .
Product Code: [.]
INN or Proposed INN: Migalastat
Trade Name: Replagal
Product Name: .
Product Code: [.]
INN or Proposed INN: AGALSIDASI ALFA
Product Name: Venglustat
Product Code: [SAR402671, GZ402671 o GZ/SAR402671]
INN or Proposed INN: venglustat malato
Other descriptive name: GZ/SAR402671
SANOFI-AVENTIS RECHERCHE E DEVELOPPEMENTNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
110Phase 3United States;Czechia;Taiwan;Greece;Spain;Turkey;Austria;United Kingdom;Italy;France;Canada;Poland;Denmark;Norway;Germany;Netherlands;China;Japan;Korea, Republic of
53EUCTR2021-000706-21-DE
(EUCTR)
10/12/202128/06/2021A study to evaluate the long-term efficacy and safety of AT-GTX-501 in patients with CLN6 Batten disease, who have received AT-GTX-501 in a previous study.LONG-TERM FOLLOW-UP OF AT-GTX-501 SCAAV9 GENE TRANSFER IN SUBJECTS WITH CLN6 BATTEN DISEASE Patients with variant late infantile neuronal ceroid lipofuscinosis associated with mutation(s) in the CLN6 gene (vLINCL6 disease), a subset of patients with CLN6 Batten disease.
MedDRA version: 23.1;Level: LLT;Classification code 10052074;Term: Neuronal ceroid lipofuscinosis NOS;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Name: scAAV9.CB.CLN6
Product Code: AT-GTX-501
INN or Proposed INN: Not yet assigned
Other descriptive name: Recombinant self-complementary adeno-associated viral vector serotype 9 containing the human CLN6 gene
Amicus Therapeutics, Inc.NULLNot RecruitingFemale: yes
Male: yes
13Phase 1;Phase 2United States;Germany
54EUCTR2018-002097-51-AT
(EUCTR)
02/12/202124/03/2021A Fabry Disease Gene Therapy Study (MARVEL 1)A Phase 1/2, Baseline-controlled, Non-randomized, Open-label, Single-ascending Dose Study of a Novel Adeno-associated Viral Vector (FLT190) in Patients With Fabry disease - MARVEL1 Fabry disease
MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: FLT190
Product Code: FLT190
INN or Proposed INN: NA
Other descriptive name: FLT190
Freeline Therapeutics LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: no
Male: yes
15Phase 1;Phase 2United States;France;Denmark;Austria;Norway;Germany;United Kingdom;Switzerland;Italy
55NCT05208281
(ClinicalTrials.gov)
November 30, 202114/10/2021A Multi-cohort Study of Safety, Efficacy, PK and PD of GNR-055 in Patients With Mucopolysaccharidosis Type IIMulticenter, Open-Label, Multi-cohort Study to Evaluate Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Drug Product GNR 055 (JSC GENERIUM, Russia) in Patients With Mucopolysaccharidosis Type IIMucopolysaccharidosis Type II;Metabolic DiseasesDrug: GNR-055 1.0-2.0-3.0 mg/kg;Drug: GNR-055 2.0 mg/kg;Drug: GNR-055 3.0 mg/kgAO GENERIUMNULLRecruitingN/AN/AMale32Phase 2/Phase 3Russian Federation
56EUCTR2021-002350-90-IT
(EUCTR)
04/11/202126/01/2022A study to evaluate the effect of venglustat tablets on neuropathic and abdominal pain in male and female adult participants with Fabry diseaseA randomized, double-blind, placebo-controlled, 12 month Phase 3 study to evaluate the effect of venglustat on neuropathic and abdominal pain in male and female adults with Fabry disease who are treatment-naïve or untreated for at least 6 months - . Fabry Disease
MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Venglustat
Product Code: [SAR402671, GZ402671 o GZ/SAR402671]
INN or Proposed INN: Venglustat malato
Other descriptive name: GZ/SAR402671
SANOFI-AVENTIS RECHERCHE E DEVELOPPEMENTNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
140Phase 3Greece;Finland;Ukraine;Turkey;Austria;Russian Federation;United Kingdom;Italy;France;Mexico;Canada;Argentina;Poland;Brazil;Romania;Denmark;Bulgaria;Norway;Netherlands;Germany;China
57EUCTR2021-002350-90-GR
(EUCTR)
01/11/202101/11/2021A study to evaluate the effect of venglustat tablets on neuropathic and abdominal pain in male and female adult participants with Fabry diseaseA randomized, double-blind, placebo-controlled, 12 month Phase 3 study to evaluate the effect of venglustat on neuropathic and abdominal pain in male and female adults with Fabry disease who are treatment-naïve or untreated for at least 6 months - PERIDOT
MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Venglustat
Product Code: SAR402671, GZ402671 or GZ/SAR402671
INN or Proposed INN: Venglustat malate
Other descriptive name: GZ/SAR402671
Sanofi-Aventis Recherche & DéveloppementNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
140Phase 3Greece;Finland;Ukraine;Turkey;Austria;Russian Federation;United Kingdom;Italy;France;Mexico;Canada;Argentina;Poland;Brazil;Romania;Denmark;Bulgaria;Norway;Netherlands;Germany;China
58NCT05152914
(ClinicalTrials.gov)
November 1, 202129/11/2021Intravitreal ERT to Prevent Retinal Disease Progression in Children With CLN2Intravitreal Enzyme Replacement Therapy to Prevent Retinal Disease Progression in Children With Neuronal Ceroid Lipofuscinosis Type 2 (CLN2)Neuronal Ceroid Lipofuscinosis Type 2Drug: Cerliponase AlfaDavid L Rogers, MDNULLEnrolling by invitation24 Months72 MonthsAll5Phase 1/Phase 2United States
59NCT04453085
(ClinicalTrials.gov)
October 28, 20214/6/2020An Extension Study of JR-171-101 Study in Patients With MPS IAn Extension Study of JR-171-101 Study in Patients With Mucopolysaccharidosis Type IMucopolysaccharidosis IDrug: JR-171 (lepunafusp alfa)JCR Pharmaceuticals Co., Ltd.NULLActive, not recruitingN/AN/AAll14Phase 1/Phase 2United States;Brazil;Japan
60NCT05134571
(ClinicalTrials.gov)
October 28, 202121/10/2021China Post-marketing Surveillance (PMS) Study of Aldurazyme®A Phase 4, Single-arm, Open-label Safety and Efficacy Study of Aldurazyme® (Laronidase) as Enzyme Replacement Therapy in Participants With Mucopolysaccharidosis I (MPS I) in ChinaMucopolysaccharidosis IDrug: LaronidaseGenzyme, a Sanofi CompanyNULLActive, not recruiting5 YearsN/AAll12Phase 4China
61NCT05343715
(ClinicalTrials.gov)
October 23, 202124/1/2022PK/PD Study of 2 Agalsidase Formulations in Single Dose of 1 mg/kg Administered to Healthy Volunteers as IV InfusionComparative Pharmacokinetic and Pharmacodynamic Study Between 2 Agalsidase Beta Formulations at a Single Dose of 1 mg/kg of Agalsidase (Biosidus) and Fabrazyme (Sanofi Genzyme) as Intravenous Infusion in Male Healthy VolunteersFabry DiseaseBiological: Agalsidase beta from Biosidus 1 mg/kg;Biological: Fabrazyme (agalsidase beta) 1 mg/kgBio Sidus SANULLActive, not recruiting18 Years40 YearsMale20Phase 1Argentina
62NCT05054387
(ClinicalTrials.gov)
October 13, 20219/9/2021China Post-marketing Surveillance (PMS) Study of Fabrazyme®A Phase 4, Open Label, Safety and Efficacy Study of Fabrazyme® (Agalsidase Beta) as Enzyme Replacement Therapy in Chinese Participants With Fabry DiseaseFabry's DiseaseDrug: Agalsidase betaGenzyme, a Sanofi CompanyNULLCompleted8 YearsN/AAll22Phase 4China
63EUCTR2018-004689-32-PL
(EUCTR)
08/10/202107/10/2021Study to Evaluate the Efficacy and Safety of REPLAGAL® in Treatment-naïve Subjects with Fabry DiseaseA Phase 3, Open-label Study to Evaluate the Efficacy and Safety of REPLAGAL® in Treatment-naïve Subjects with Fabry Disease Fabry disease
MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Trade Name: REPLAGAL ®
Product Name: REPLAGAL
Product Code: SHP675
INN or Proposed INN: AGALSIDASE ALFA
Other descriptive name: Gene Activated a-Galactosidase A
Shire Human Genetic Therapies, Inc.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
36Phase 3Portugal;Slovenia;Greece;Finland;Spain;Ukraine;Italy;Hungary;Canada;Argentina;Poland;Belgium;Brazil;Romania;Croatia;Australia;Latvia;Germany;Sweden;Bosnia and Herzegovina
64EUCTR2018-004689-32-GR
(EUCTR)
06/10/202106/10/2021Study to Evaluate the Efficacy and Safety of REPLAGAL® in Treatment-naïve Subjects with Fabry DiseaseA Phase 3, Open-label Study to Evaluate the Efficacy and Safety of REPLAGAL® in Treatment-naïve Subjects with Fabry Disease REPLAGAL is intended for use for patients with Fabry disease.
MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Trade Name: REPLAGAL ®
Product Name: REPLAGAL
Product Code: SHP675
INN or Proposed INN: AGALSIDASE ALFA
Other descriptive name: Gene Activated a-Galactosidase A
Shire Human Genetic Therapies, Inc.NULLNot RecruitingFemale: yes
Male: yes
45Phase 3Portugal;Slovenia;Greece;Finland;Spain;Ukraine;Italy;Hungary;Canada;Argentina;Belgium;Brazil;Poland;Croatia;Romania;Australia;Latvia;Germany;Bosnia and Herzegovina;Sweden
65EUCTR2018-004689-32-PT
(EUCTR)
24/09/202111/08/2021Study to Evaluate the Efficacy and Safety of REPLAGAL® in Treatment-naïve Subjects with Fabry DiseaseA Phase 3, Open-label Study to Evaluate the Efficacy and Safety of REPLAGAL® in Treatment-naïve Subjects with Fabry Disease Fabry disease
MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Trade Name: REPLAGAL ®
Product Name: REPLAGAL
Product Code: SHP675
INN or Proposed INN: AGALSIDASE ALFA
Other descriptive name: Gene Activated a-Galactosidase A
Shire Human Genetic Therapies, Inc.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
45Phase 3Portugal;Slovenia;Greece;Finland;Spain;Ukraine;Italy;Hungary;Canada;Argentina;Belgium;Brazil;Poland;Croatia;Romania;Australia;Latvia;Germany;Bosnia and Herzegovina;Sweden
66JPRN-jRCT2031210279
15/09/202127/08/2021An open label interventional single-patient study to evaluate the safety of olipudase alfa enzyme replacement therapy for the patient in Japan with acid sphingomyelinase deficiency (ASMD) who has completed Study DFI12712An open label interventional single-patient study to evaluate the safety of olipudase alfa enzyme replacement therapy for the patient in Japan with acid sphingomyelinase deficiency (ASMD) who has completed Study DFI12712 Acid sphingomyelinase deficiencyDrug: Olipudase alfa (GZ402665)
Pharmaceutical form: lyophilized powder, Route of administration: Intravenous (IV) infusion.
Tanaka TomoyukiNULLNot Recruiting>= 20age oldNot applicableBoth1Phase 2-3Japan
67EUCTR2018-004689-32-SE
(EUCTR)
24/08/202117/08/2021Study to Evaluate the Efficacy and Safety of REPLAGAL® in Treatment-naïve Subjects with Fabry DiseaseA Phase 3, Open-label Study to Evaluate the Efficacy and Safety of REPLAGAL® in Treatment-naïve Subjects with Fabry Disease Fabry disease
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Trade Name: REPLAGAL ®
Product Name: REPLAGAL
Product Code: SHP675
INN or Proposed INN: AGALSIDASE ALFA
Other descriptive name: Gene Activated a-Galactosidase A
Shire Human Genetic Therapies, Inc.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
45Phase 3Portugal;Slovenia;Greece;Finland;Spain;Ukraine;Italy;Hungary;Canada;Argentina;Poland;Brazil;Belgium;Romania;Croatia;Australia;Germany;Latvia;Sweden;Bosnia and Herzegovina
68EUCTR2020-005229-95-NL
(EUCTR)
23/08/202119/03/2021Study to assess safety, tolerability and efficacy of PBKR03 in pediatric subjects with Krabbe disease (GALax-C)A Phase 1/2 Open-Label, Multicenter, Dose Ranging and Confirmatory Study to Assess the Safety, Tolerability and Efficacy of PBKR03 Administered to Pediatric Subjects with Early Infantile Krabbe Disease (Globoid Cell Leukodystrophy) (GALax-C) - Study of Safety, Tolerability and Efficacy of PBKR03 in Pediatric Subjects with Early Infantile Krab Krabbe disease (globoid cell leukodystrophy) is an autosomal recessive lysosomal storage disease (LSD) caused by mutations in the gene encoding the hydrolytic enzyme galactosylceramidase (galactocerebrosidase; GALC)
MedDRA version: 20.0;Level: PT;Classification code 10023492;Term: Krabbe's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Code: PBKR03
INN or Proposed INN: Not available yet
Other descriptive name: Adeno-associated virus serotype hu68 containing the human GALC gene
Passage Bio, Inc.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
28Phase 1;Phase 2United States;Canada;Brazil;Israel;Netherlands;United Kingdom
69NCT05039866
(ClinicalTrials.gov)
August 16, 202120/8/2021Long-Term Follow-up of Subjects Who Were Treated With ST-920Long-Term Follow-up of Fabry Disease Subjects Who Were Treated With ST-920, an AAV2/6 Human Alpha Galactosidase A Gene TherapyFabry Disease;Fabry Disease, Cardiac VariantBiological: ST-920Sangamo TherapeuticsNULLEnrolling by invitation18 YearsN/AAll48United States;United Kingdom
70JPRN-jRCT2031210126
27/07/202131/05/2021Post-marketing Clinical Study of IZCARGO in Patients with Mucopolysaccharidosis Type IIPost-marketing Clinical Study of IZCARGO in Patients with Mucopolysaccharidosis Type II mucopolysaccharidosis type II (MPS II)[Post-marketing clinical study drug]
Name
- Post-marketing clinical study drug (code): IZCARGO for I.V. infusion 10 mg (test drug code: JR-141)
- Nonproprietary name
International nonproprietary name (INN): pabinafusp alfa (r-INN List 82, WHO Drug Information, Vol. 33. No. 3, 2019)
Japanese accepted names for pharmaceuticals (JAN)
Registered number: 301-4-B3
Japanese name: pabinafusp alfa (genetical recombination)
English name: Pabinafusp Alfa (Genetical Recombination)
Dose and regimen: Subjects will receive 2.0 mg of pabinafusp alfa (genetical recombination) per kilogram of body weight once a week as an intravenous infusion.
Yamamoto TatsuyoshiNULLRecruitingNot applicableNot applicableBoth20Phase 4Japan
71EUCTR2018-003291-12-GR
(EUCTR)
27/07/202106/07/2021Research study to determine the effects of an investigational drug, SHP611 on patients with with Late Infantile Metachromatic Leukodystrophy (MLD) specially the gross motor function, using the Gross Motor Function Classification in Metachromatic Leukodystrophy (GMFC-MLD) compared with matched historical control data in children with MLD.A Global, Multicenter, Open-label, Matched Historical Control Study of Intrathecal SHP611 in Subjects with Late Infantile Metachromatic Leukodystrophy Late Metachromatic Leukodystrophy (MLD)
MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Code: SHP611
Other descriptive name: RECOMBINANT HUMAN ARYLSULFATASE A
Shire Human Genetic Therapies, Inc.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
42Phase 2United States;Greece;Spain;Israel;Italy;United Kingdom;France;Canada;Argentina;Brazil;Belgium;Germany;Netherlands;Japan
72NCT04877132
(ClinicalTrials.gov)
July 21, 20213/5/2021Compassionate Use Program for Olipudase Alfa Enzyme Replacement Therapy for Patients With Chronic Acid Sphingomyelinase Deficiency (ASMD)Compassionate Use Program for Olipudase Alfa Enzyme Replacement Therapy for Patients With Chronic Acid Sphingomyelinase Deficiency (ASMD)Sphingomyelin LipidosisDrug: olipudase alfa (GZ402665)SanofiNULLApproved for marketing3 YearsN/AAllNULL
73EUCTR2019-002936-97-FR
(EUCTR)
06/07/202109/02/2021A Long-term Follow-up Study of Patients with MPS IIIB from Gene Therapy Clinical Trials Involving the Administration of ABO-101 (rAAV9.CMV.hNAGLU)A Long-term Follow-up Study of Patients with MPS IIIB from Gene Therapy Clinical Trials Involving the Administration of ABO-101 (rAAV9.CMV.hNAGLU) MPS IIIB is a devastating lysosomal storage disease, caused by a N-a-acetylglucosaminidase (NAGLU) gene defect. Infants with MPS IIIB appear normal at birth, but the disease is relentlessly progressive, with deterioration of social and adaptive abilities, neurocognitive decline, and premature death. Death typically occurs by end of the second or beginning of the third decade. Quite importantly, there is no treatment currently available for the disease.
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: rAAV9.CMV.hNAGLU
Product Code: ABO-101
INN or Proposed INN: rAAV9.CMV.hNAGLU
Other descriptive name: Adeno-associated viral vector serotype 9 containing the human N-acetyl-alpha-glucosaminidase gene
Abeona Therapeutics Europe SL.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
24Phase 1;Phase 2United States;France;Germany
74NCT04532047
(ClinicalTrials.gov)
July 1, 202119/8/2020In Utero Enzyme Replacement Therapy for Lysosomal Storage DiseasesIn Utero Enzyme Replacement Therapy (ERT) for Prenatally Diagnosed Lysosomal Storage Disorders (LSDs).MPS I;MPS II;MPS IVA;MPS VI;Mps VII;Gaucher Disease, Type 2;Gaucher Disease, Type 3;Pompe Disease Infantile-Onset;Wolman DiseaseDrug: Aldurazyme (laronidase)University of California, San FranciscoDuke UniversityRecruiting18 Years50 YearsFemale10Phase 1United States
75JPRN-jRCT2051210024
10/06/202111/05/2021Investigation of the Food Effect on the Pharmacokinetics of JT408TInvestigation of the Food Effect on the Pharmacokinetics of JT408T Improvement of neurological symptoms of Gaucher's disease1) After fasting, administer 400 mg of ambroxol hydrochloride orally in a single dose.
2) After meals, administer 400 mg of ambroxol hydrochloride orally in a single dose.
Yutaka ShunichiroNULLComplete>= 20age old< 35age oldMale16Phase 1Japan
76EUCTR2020-003120-17-FR
(EUCTR)
18/05/202111/03/2021Venglustat in Combination with Cerezyme in Adult and Pediatric Patients with Gaucher Disease Type 3A 3-part study to evaluate the efficacy and safety of venglustat in combination with Cerezyme in adult and pediatric patients with Gaucher disease Type 3 (GD3) with open-label long-term treatment - LEAP2IT Gaucher disease type 3
MedDRA version: 20.0;Level: PT;Classification code 10075699;Term: Gaucher's disease type III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Venglustat
Product Code: GZ402671
INN or Proposed INN: Venglustat malate
Product Name: Venglustat
Product Code: GZ402671
INN or Proposed INN: Venglustat malate
Other descriptive name: Genz-682452-AU
Genzyme CorporationNULLNot RecruitingFemale: yes
Male: yes
12Phase 2;Phase 3United States;Taiwan;Turkey;France;Egypt;Hungary;Canada;Argentina;Brazil;Germany;China;Japan;Sweden
77EUCTR2019-004909-27-NL
(EUCTR)
11/05/202103/09/2020STUDY TO EVALUATE THE SAFETY AND ESTABLISH A SAFE DOSE OF DNL310 IN PEDIATRIC SUBJECTS WITH HUNTER SYNDROMEA PHASE 1/2, MULTICENTER, OPEN-LABEL STUDY TO DETERMINE THE SAFETY, PHARMACOKINETICS, AND PHARMACODYNAMICS OF DNL310 IN PEDIATRIC SUBJECTS WITH HUNTER SYNDROME Hunter Syndrome (Mucopolysaccharidosis Type II [MPS II])
MedDRA version: 20.0;Level: LLT;Classification code 10056917;Term: Hunter's syndrome;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: DNL310
Product Code: DNL310 Drug Substance
INN or Proposed INN: Not applicable
Other descriptive name: IDURONATE-2-SULFATASE FUSED TO A FC POLYPEPTIDE THAT BINDS TO THE HUMAN TRANSFERRIN RECEPTOR
Denali Therapeutics Inc.NULLAuthorised-recruitment may be ongoing or finishedFemale: no
Male: yes
16Phase 1;Phase 2United States;Germany;Netherlands;United Kingdom;Italy
78NCT04273269
(ClinicalTrials.gov)
May 11, 202121/1/2020A Safety and Efficacy Study of LYS-GM101 Gene Therapy in Patients With GM1 GangliosidosisAn Open-Label Adaptive-Design Study of Intracisternal Adenoassociated Viral Vector Serotype rh.10 Carrying the Human ß-Galactosidase cDNA for Treatment of GM1 GangliosidosisGM1 GangliosidosisGenetic: LYS-GM101LYSOGENENULLActive, not recruitingN/A3 YearsAll16Phase 1/Phase 2United States;France;United Kingdom
79EUCTR2018-002210-12-FR
(EUCTR)
28/04/202126/10/2018A study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry diseaseA multi-center, open-label, uncontrolled, single-arm, extension study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry disease Fabry disease
MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Lucerastat
Product Code: ACT-434964
INN or Proposed INN: Lucerastat
Other descriptive name: OGT923
Idorsia Pharmaceuticals LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
108Phase 3United States;France;Czech Republic;Canada;Belgium;Poland;Austria;Netherlands;Germany;United Kingdom
80EUCTR2019-002375-34-AT
(EUCTR)
27/04/202106/12/2019A multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, and safety of venglustat in late-onset GM2A multicenter, multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, safety, and tolerability of venglustat in late-onset GM2 gangliosidosis (Tay-Sachs disease and Sandhoff disease) together with a separate basket for juvenile/adolescent late-onset GM2 gangliosidosis and ultra-rare diseases within the same and similar glucosylceramide-based sphingolipid pathway - AMETHIST Tay-Sachs diseaseSandhoff disease
MedDRA version: 23.0;Level: LLT;Classification code 10043147;Term: Tay-Sachs disease;System Organ Class: 100000004850
MedDRA version: 23.0;Classification code 10081314;Term: Sandhoff disease;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Name: Venglustat
Product Code: GZ402671
INN or Proposed INN: Venglustat
Other descriptive name: Genz-682452-AU
Product Name: Venglustat
Product Code: GZ402671
INN or Proposed INN: Venglustat
Other descriptive name: Genz-682452-AU
Product Name: Venglustat
Product Code: GZ402671
INN or Proposed INN: Venglustat
Other descriptive name: Genz-682452-AU
Genzyme CorporationNULLNot RecruitingFemale: yes
Male: yes
104Phase 3United States;Portugal;Czechia;Spain;Turkey;Austria;Russian Federation;Italy;United Kingdom;France;Czech Republic;Argentina;Brazil;Germany;Japan
81EUCTR2018-001148-67-FI
(EUCTR)
16/04/202128/01/2021Safety and Efficacy study assessing Pegunigalsidase Alfa (PRX-102) in Patients With Fabry DiseaseOpen Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102) in Patients With Fabry Disease
MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: PEGUNIGALSIDASE ALFA
Other descriptive name: CHF6657
Chiesi Farmaceutici S.p.ANULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
110Phase 3United States;Czechia;Slovenia;Finland;Spain;Italy;United Kingdom;France;Czech Republic;Hungary;Canada;Australia;Netherlands;Norway
82EUCTR2020-003120-17-DE
(EUCTR)
12/04/202123/02/2021Venglustat in Combination with Cerezyme in Adult and Pediatric Patients with Gaucher Disease Type 3A 3-part study to evaluate the efficacy and safety of venglustat in combination with Cerezyme in adult and pediatric patients with Gaucher disease Type 3 (GD3) with open-label long-term treatment - LEAP2IT Gaucher disease type 3
MedDRA version: 20.0;Level: PT;Classification code 10075699;Term: Gaucher's disease type III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Venglustat
Product Code: GZ402671
INN or Proposed INN: Venglustat malate
Product Name: Venglustat
Product Code: GZ402671
INN or Proposed INN: Venglustat malate
Other descriptive name: Genz-682452-AU
Genzyme CorporationNULLNot RecruitingFemale: yes
Male: yes
12Phase 2;Phase 3United States;Taiwan;Turkey;Egypt;France;Hungary;Canada;Argentina;Brazil;Germany;China;Japan;Sweden
83EUCTR2020-003120-17-HU
(EUCTR)
06/04/202124/02/2021Venglustat in Combination with Cerezyme in Adult and Pediatric Patients with Gaucher Disease Type 3A 3-part study to evaluate the efficacy and safety of venglustat in combination with Cerezyme in adult and pediatric patients with Gaucher disease Type 3 (GD3) with open-label long-term treatment - LEAP2IT Gaucher disease type 3
MedDRA version: 20.0;Level: PT;Classification code 10075699;Term: Gaucher's disease type III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Venglustat
Product Code: GZ402671
INN or Proposed INN: Venglustat malate
Product Name: Venglustat
Product Code: GZ402671
INN or Proposed INN: Venglustat malate
Other descriptive name: Genz-682452-AU
Genzyme CorporationNULLNot RecruitingFemale: yes
Male: yes
12Phase 2;Phase 3United States;Taiwan;Turkey;Egypt;France;Hungary;Canada;Argentina;Brazil;Germany;China;Japan;Sweden
84EUCTR2018-002210-12-NO
(EUCTR)
26/03/202122/09/2020A study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry diseaseA multi-center, open-label, uncontrolled, single-arm, extension study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry disease Fabry disease
MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Lucerastat
Product Code: ACT-434964
INN or Proposed INN: Lucerastat
Other descriptive name: OGT923
Idorsia Pharmaceuticals LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
108Phase 3United States;Spain;Ireland;Austria;Italy;United Kingdom;France;Canada;Belgium;Poland;Australia;Norway;Germany;Netherlands
85NCT04713475
(ClinicalTrials.gov)
March 17, 20214/1/2021Study of Safety, Tolerability and Efficacy of PBGM01 in Pediatric Subjects With GM1 GangliosidosisPhase 1/2 Open-Label, Multicenter Study to Assess the Safety, Tolerability and Efficacy of a Single Dose of PBGM01 Delivered Into the Cisterna Magna of Subjects With Type 1 (Early Onset) and Type 2a (Late Onset) Infantile GM1 GangliosidosisGM1 Gangliosidosis;GM1 Gangliosidosis, Type I;GM1 Gangliosidosis, Type 2;Beta-Galactosidase-1 (GLB1) DeficiencyBiological: PBGM01Passage Bio, Inc.NULLActive, not recruiting4 Months36 MonthsAll20Phase 1/Phase 2United States;Brazil;Canada;Turkey;United Kingdom
86NCT04798235
(ClinicalTrials.gov)
March 12, 202122/2/2021First-in-Human Study of TSHA-101 Gene Therapy for Treatment of Infantile Onset GM2 GangliosidosisPhase 1/2, Open-Label Clinical Study to Evaluate the Safety and Efficacy of Intrathecal TSHA-101 Gene Therapy for Treatment of Infantile Onset GM2 GangliosidosisInfantile GM2 Gangliosidosis (Disorder)Biological: TSHA-101Dr. Anupam SehgalTaysha Gene Therapies, Inc.;GlycoNetActive, not recruitingN/A15 MonthsAll3Phase 1/Phase 2Canada
87NCT04571970
(ClinicalTrials.gov)
March 11, 202123/9/2020RGX-121 Gene Therapy in Children 5 Years of Age and Over With MPS II (Hunter Syndrome)A Phase I/II Multicenter, Open-Label Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of RGX-121 in Children 5 Years of Age and Older With MPS II (Hunter Syndrome)Mucopolysaccharidosis Type II (MPS II)Genetic: RGX-121REGENXBIO Inc.NULLActive, not recruiting5 Years17 YearsMale6Phase 1/Phase 2United States;Canada
88NCT04656600
(ClinicalTrials.gov)
March 2, 20214/12/2020Study to Evaluate Efficacy and Safety of Imiglucerase Treatment in Chinese Patients With Gaucher Disease Type ?A Single Arm, Prospective, Open Label, Multicenter Study to Evaluate Efficacy and Safety of One-year Maximum Dosage in Chinese Label of Imiglucerase Treatment in Chinese Patients Who Are Diagnosed as Gaucher Disease Type ?Gaucher's DiseaseDrug: Cerezyme® / ImigluceraseSanofiNULLRecruiting2 YearsN/AAll12Phase 4China
89EUCTR2018-002984-24-BE
(EUCTR)
11/02/202102/10/2020Open-label, Single-arm, Multicenter Study to Assess the Safety of Cystadrops® in Pediatric Cystinosis Patients from 6 Months to Less Than 2 Years OldStudy to Assess the Safety of Cystadrops® in Pediatric Cystinosis Patients from 6 Months to Less Than 2 Years Old - SCOB2 (Study Cystadrops® Ophthalmic for Patients Below 2 years) Nephropatic Cystinosis patients with corneal cystine crystal deposits
MedDRA version: 20.0;Level: LLT;Classification code 10071112;Term: Nephropathic cystinosis;System Organ Class: 100000004850;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03]
Trade Name: Cystadrops
Product Name: Cystadrops
INN or Proposed INN: Cysteamine hydrochloride
Other descriptive name: ß-mercaptoethylamine Hydrochloride & 2-aminoethanethiol Hydrochloride
Recordati Rare DiseasesNULLNot RecruitingFemale: yes
Male: yes
5Phase 3France;Belgium;Germany;Italy;United Kingdom
90NCT04669535
(ClinicalTrials.gov)
January 15, 202123/11/2020A Dose-escalation and Safety & Efficacy Study of AXO-AAV-GM2 in Tay-Sachs or Sandhoff DiseaseA Two-Stage, Dose-Escalation and Safety & Efficacy Study of Bilateral Intraparenchymal Thalamic and Intracisternal/Intrathecal Administration of AXO-AAV-GM2 in Tay-Sachs or Sandhoff DiseaseTay-Sachs Disease;Sandhoff DiseaseBiological: AXO-AAV-GM2 Starting Dose;Biological: AXO-AAV-GM2 Low Dose;Biological: AXO-AAV-GM2 Middle Dose;Biological: AXO-AAV-GM2 High DoseTerence FlotteUniversity of Massachusetts, Worcester;Massachusetts General HospitalActive, not recruiting6 Months12 YearsAll7Phase 1United States
91NCT04031066
(ClinicalTrials.gov)
January 11, 202117/7/2019Interventional Study to Assess Efficacy and Safety of Velmanase Alfa in Patients With Alpha MannosidosisA Multicenter, Randomized, Double-blind, Placebo-controlled, Parallel Group, Phase 3 Study to Evaluate the Efficacy and Safety of Velmanase Alfa in Patients With Alpha MannosidosisAlpha-MannosidosisDrug: Velmanase Alfa;Drug: PlaceboChiesi Farmaceutici S.p.A.NULLWithdrawnN/AN/AAll0Phase 3NULL
92EUCTR2018-002097-51-DK
(EUCTR)
04/12/202008/07/2019A Fabry Disease Gene Therapy StudyA Phase 1/2, Baseline-controlled, Non-randomised, Open-label, Single-ascending Dose Study of a Novel Adeno-associated Viral Vector (FLT190) in Patients With Fabry disease - MARVEL1 Fabry disease
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: FLT190
Product Code: FLT190
INN or Proposed INN: NA
Other descriptive name: FLT190
Freeline Therapeutics LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: no
Male: yes
12Phase 1;Phase 2United States;France;Spain;Denmark;Norway;Germany;United Kingdom;Italy
93EUCTR2018-001148-67-IT
(EUCTR)
11/11/202021/10/2020Safety and Efficacy study assessing Pegunigalsidase Alfa (PRX-102) in Patients With Fabry DiseaseOpen Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102) in Patients With Fabry Disease - na Fabry disease (a-galactosidase A deficiency)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: [PRX-102]
INN or Proposed INN: PEGUNIGALSIDASE ALFA
PROTALIX LTDNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
110Phase 3United States;Slovenia;Finland;Spain;Turkey;United Kingdom;Italy;Switzerland;Czech Republic;Hungary;Canada;Argentina;Belgium;Brazil;Australia;Netherlands;Norway
94NCT04628871
(ClinicalTrials.gov)
November 3, 20209/11/2020Long Term Follow-up (LTFU) of Subjects Who Received SB-318, SB-913, or SB-FIXLong-Term Follow-up of Subjects Who Were Treated With SB-318, SB-913, or SB-FIX, for Targeted Genome Editing Into the Albumin Gene in the LiverHemophilia B;Mucopolysaccharidosis I;Mucopolysaccharidosis IIBiological: SB-318;Biological: SB-913;Biological: SB-FIXSangamo TherapeuticsNULLActive, not recruiting18 YearsN/AAll13United States
95NCT04655911
(ClinicalTrials.gov)
October 28, 202017/11/2020A Long-term Follow-up Study of Patients With MPS IIIB Treated With ABO-101A Long-term Follow-up Study of Patients With MPS IIIB From Gene Therapy Clinical Trials Involving the Administration of ABO-101 (rAAV9.CMV.hNAGLU)Mucopolysaccharidosis III-BBiological: ABO-101Abeona Therapeutics, IncNULLTerminatedN/AN/AAll1United States;France;Germany
96JPRN-jRCT2021200023
27/10/202009/10/2020A multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, and safety of venglustat in late onset GM2A multicenter, multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, safety, and tolerability of venglustat in late onset GM2 gangliosidosis (Tay-Sachs disease and Sandhoff disease) together with a separate basket for juvenile/adolescent late onset GM2 gangliosidosis and ultra rare diseases within the same and similar glucosylceramide-based sphingolipid pathway Tay-Sachs Disease, Sandhoff DiseaseDrug: venglustat GZ402671
- Pharmaceutical form: tablet
- Route of administration: oral
Drug: placebo
- Pharmaceutical form: tablet
- Route of administration: oral
Tanaka TomoyukiNULLNot Recruiting>= 2age oldNot applicableBoth77Phase 3Spain;United States;Brazil;Russian Federation;United Kingdom;Argentina;Austria;Czechia;Germany;Italy;Portugal;Turkey;France;Japan
97EUCTR2018-002210-12-IT
(EUCTR)
22/10/202017/06/2021A study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry diseaseA multi-center, open-label, uncontrolled, single-arm, extension study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry disease - Not applicable Fabry disease
MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Lucerastat
Product Code: [ACT-434964]
INN or Proposed INN: Lucerastat
Other descriptive name: OGT923
IDORSIA PHARMACEUTICALS LTDNULLNot RecruitingFemale: yes
Male: yes
108Phase 3United States;Spain;Ireland;Austria;Italy;United Kingdom;France;Canada;Belgium;Poland;Australia;Germany;Netherlands;Norway
98EUCTR2018-003291-12-IT
(EUCTR)
16/10/202021/10/2020Research study to determine the effects of an investigational drug, SHP611 on patients with with Late Infantile Metachromatic Leukodystrophy (MLD) specially the gross motor function, using the Gross Motor FunctionClassification in Metachromatic Leukodystrophy (GMFC-MLD) compared with matched historical control data in children with MLD.A Global, Multicenter, Open-label, Matched Historical Control Study of Intrathecal SHP611 in Subjects with Late Infantile Metachromatic Leukodystrophy - ---- Late Metachromatic Leukodystrophy (MLD)
MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Trade Name: --
Product Name: ---
Product Code: [SHP611]
INN or Proposed INN: Recombinant Human Arylsulfatase A (rhASA)
Other descriptive name: RECOMBINANT HUMAN ARYLSULFATASE A
SHIRE HUMAN GENETIC THERAPIES, INCNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
42Phase 2United States;France;Canada;Spain;Brazil;Belgium;Israel;Netherlands;Germany;United Kingdom;Japan;Italy
99NCT04360265
(ClinicalTrials.gov)
September 28, 202020/4/2020A Long-term Follow-up Study of Patients With MPS IIIA Treated With ABO-102A Long-term Follow-up Study of Patients With MPS IIIA From Gene Therapy Clinical Trials Involving the Administration of ABO-102 (scAAV9.U1a.hSGSH)Mucopolysaccharidosis III-ABiological: ABO-102Ultragenyx Pharmaceutical IncAbeona Therapeutics, IncEnrolling by invitationN/AN/AAll50United States;Australia;Spain
100NCT04455230
(ClinicalTrials.gov)
September 8, 202029/6/2020A Long Term Follow-Up Study of Fabry Disease Subjects Treated With FLT190A Multicenter, Long-term, Follow-up Study to Investigate the Safety and Durability of Response Following Dosing of an Adeno-associated Viral Vector (FLT190) in Subjects With Fabry DiseaseFabry Disease;Lysosomal Storage DiseasesGenetic: FLT190Freeline TherapeuticsNULLEnrolling by invitation18 YearsN/AMale50Phase 1/Phase 2Germany;United Kingdom
101NCT04227600
(ClinicalTrials.gov)
September 1, 202027/12/2019A Study of JR-171 in Patients With Mucopolysaccharidosis IPhase I/II Study of JR-171 ? Patients With Mucopolysaccharidosis Type IMucopolysaccharidosis IDrug: JR-171 (lepunafusp alfa)JCR Pharmaceuticals Co., Ltd.NULLCompleted0 YearsN/AAll19Phase 1/Phase 2United States;Brazil;Japan
102NCT04519749
(ClinicalTrials.gov)
September 1, 202014/8/2020An Open-label, Phase 1/2 Trial of Gene Therapy 4D-310 in Adults With Fabry DiseaseAn Open-label, Phase 1/2 Trial of Gene Therapy 4D-310 in Adults With Fabry DiseaseFabry DiseaseBiological: 4D-3104D Molecular TherapeuticsNULLActive, not recruiting18 YearsN/AAll18Phase 1/Phase 2United States
103NCT04125927
(ClinicalTrials.gov)
September 1, 20203/10/2019Cystadrops in Pediatric Cystinosis Patients From Six Months to Less Than Two Years Old (SCOB2)Open-label, Single-arm, Multicenter Study to Assess the Safety of Cystadrops® in Pediatric Cystinosis Patients From 6 Months to Less Than 2 Years OldCystinosisDrug: MercaptamineRecordati Rare DiseasesNULLRecruiting6 Months2 YearsAll5Phase 3Belgium;France;Germany;Italy;United Kingdom
104NCT04143958
(ClinicalTrials.gov)
September 202028/10/2019To Assess the Glycosphingolipid Clearance and Clinical Effects of Switching to Agalsidase Beta (Fabrazyme) Versus Continuing on Agalsidase Alfa (Replagal) in Male Patients With Classic Fabry DiseaseA Randomized, Open-label, Active Comparator, 2-arm, Prospective Study to Assess the Glycosphingolipid Clearance and Clinical Effects of Switching to Agalsidase Beta (Fabrazyme) Versus Continuing on Agalsidase Alfa (Replagal) in Male Patients With Classic Fabry DiseaseFabry's DiseaseDrug: agalsidase beta (GZ419828);Drug: agalsidase alfaSanofiNULLWithdrawn16 Years45 YearsMale0Phase 4Czechia
105EUCTR2019-000222-21-GB
(EUCTR)
25/08/202012/06/2020Migalastat Pediatric Long Term Extension StudyA LONG-TERM, OPEN-LABEL STUDY TO EVALUATE THE SAFETY, PHARMACODYNAMICS, AND EFFICACY OF MIGALASTAT IN SUBJECTS > 12 YEARS OF AGE WITH FABRY DISEASE AND AMENABLE GLA VARIANTS Fabry disease and with amenable GLA variants
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Migalastat
Product Code: AT1001
INN or Proposed INN: migalastat
Other descriptive name: MIGALASTAT HYDROCHLORIDE
Amicus Therapeutics, UK LimitedNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
20Phase 3United States;United Kingdom
106EUCTR2017-003369-85-NO
(EUCTR)
24/08/202026/06/2020A research study to study the effects of a new oral drug called lucerastat in adults with Fabry diseaseA multicenter, double-blind, randomized, placebo-controlled, parallel-group study to determine the efficacy and safety of lucerastat oral monotherapy in adult subjects with Fabry disease. - MODIFY Fabry disease
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Lucerastat
Product Code: ACT-434964
INN or Proposed INN: Lucerastat
Other descriptive name: OGT923
Idorsia Pharmaceuticals LtdNULLNot RecruitingFemale: yes
Male: yes
99Phase 3United States;Spain;Ireland;Austria;United Kingdom;Italy;Switzerland;Canada;Belgium;Poland;Australia;Norway;Germany;Netherlands
107NCT04476862
(ClinicalTrials.gov)
August 19, 202015/7/2020Cerliponase Alfa Observational Study in the USCerliponase Alfa Observational StudyLate-Infantile Neuronal Ceroid Lipofuscinosis Type 2Drug: Cerliponase Alfa;Device: Administration KitBioMarin PharmaceuticalNULLRecruitingN/AN/AAll35United States
108NCT04552691
(ClinicalTrials.gov)
August 7, 202011/9/2020Open-Label Expanded Access Treatment With Pegunigalsidase Alfa for Fabry Disease PatientsExpanded Access Treatment With Open-Label Pegunigalsidase Alfa for Fabry PatientsFabry DiseaseDrug: Pegunigalsidase AlfaProtalixChiesi USA, Inc.Available18 YearsN/AAllUnited States
109NCT04246060
(ClinicalTrials.gov)
July 31, 202027/1/2020Observational Study to Assess the Quality of Life in Nephropathic Cystinosis PatientsMulticentre, Ambispective, Observational, Real Life Study to Assess the Quality of Life Effectiveness of Extended Release (ER) Oral Cysteamine Therapy (Procysbi) in Belgian Patients Suffering From Nephropathic CystinosisNephropathic CystinosisDrug: Cysteamine BitartrateChiesi SA/NVNULLEnrolling by invitationN/AN/AAll31Belgium
110EUCTR2019-002375-34-DE
(EUCTR)
23/07/202025/11/2019A multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, and safety of venglustat in late-onset GM2A multicenter, multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, safety, and tolerability of venglustat in late-onset GM2 gangliosidosis (Tay-Sachs disease and Sandhoff disease) together with a separate basket for juvenile/adolescent late-onset GM2 gangliosidosis and ultra-rare diseases within the same and similar glucosylceramide-based sphingolipid pathway - AMETHIST Tay-Sachs diseaseSandhoff disease
MedDRA version: 23.0;Level: LLT;Classification code 10043147;Term: Tay-Sachs disease;System Organ Class: 100000004850
MedDRA version: 23.0;Classification code 10081314;Term: Sandhoff disease;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Name: Venglustat
Product Code: GZ402671
INN or Proposed INN: Venglustat
Other descriptive name: Genz-682452-AU
Product Name: Venglustat
Product Code: GZ402671
INN or Proposed INN: Venglustat
Other descriptive name: Genz-682452-AU
Product Name: Venglustat
Product Code: GZ402671
INN or Proposed INN: Venglustat
Other descriptive name: Genz-682452-AU
Genzyme CorporationNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
104Phase 3United States;Portugal;Czechia;Spain;Turkey;Austria;Russian Federation;United Kingdom;Italy;France;Czech Republic;Argentina;Brazil;Germany;Japan
111EUCTR2019-004909-27-GB
(EUCTR)
22/07/202001/05/2020STUDY TO EVALUATE THE SAFETY AND ESTABLISH A SAFE DOSE OF DNL310 IN PEDIATRIC SUBJECTS WITH HUNTER SYNDROMEA PHASE 1/2, MULTICENTER, OPEN-LABEL STUDY TO DETERMINE THE SAFETY, PHARMACOKINETICS, AND PHARMACODYNAMICS OF DNL310 IN PEDIATRIC SUBJECTS WITH HUNTER SYNDROME Hunter Syndrome (Mucopolysaccharidosis Type II [MPS II])
MedDRA version: 20.0;Level: LLT;Classification code 10056917;Term: Hunter's syndrome;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: DNL310
Product Code: DNL310 Drug Substance
INN or Proposed INN: Not applicable
Other descriptive name: IDURONATE-2-SULFATASE FUSED TO A FC POLYPEPTIDE THAT BINDS TO THE HUMAN TRANSFERRIN RECEPTOR
Denali Therapeutics Inc.NULLAuthorised-recruitment may be ongoing or finishedFemale: no
Male: yes
16Phase 1;Phase 2United States;Netherlands;Germany;Italy;United Kingdom
112EUCTR2017-003369-85-IT
(EUCTR)
16/07/202007/10/2020A research study to study the effects of a new oral drug called lucerastat in adults with Fabry diseaseA multicenter, double-blind, randomized, placebo-controlled, parallel-group study to determine the efficacy and safety of lucerastat oral monotherapy in adult subjects with Fabry disease - MODIFY Fabry disease
MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Lucerastat
Product Code: [ACT-434964]
INN or Proposed INN: Lucerastat
Other descriptive name: OGT923
IDORSIA PHARMACEUTICALS LTDNULLNot RecruitingFemale: yes
Male: yes
108Phase 3United States;Finland;Spain;Ireland;Austria;United Kingdom;Italy;Switzerland;Canada;Belgium;Poland;Australia;Germany;Netherlands;Norway
113NCT04251026
(ClinicalTrials.gov)
July 16, 202028/1/2020A Study of DNL310 in Pediatric Participants With Hunter SyndromeA Phase 1/2, Multicenter, Open-Label Study to Determine the Safety, Pharmacokinetics, and Pharmacodynamics of DNL310 in Pediatric Participants With Hunter SyndromeMucopolysaccharidosis IIDrug: DNL310Denali Therapeutics Inc.NULLRecruitingN/A18 YearsMale45Phase 1/Phase 2United States;Netherlands
114EUCTR2018-002984-24-DE
(EUCTR)
30/06/202010/01/2020Open-label, Single-arm, Multicenter Study to Assess the Safety of Cystadrops® in Pediatric Cystinosis Patients from 6 Months to Less Than 2 Years OldStudy to Assess the Safety of Cystadrops® in Pediatric Cystinosis Patients from 6 Months to Less Than 2 Years Old - SCOB2 (Study Cystadrops® Ophthalmic for Patients Below 2 years) Nephropatic Cystinosis patients with corneal cystine crystal deposits
MedDRA version: 20.0;Level: LLT;Classification code 10071112;Term: Nephropathic cystinosis;System Organ Class: 100000004850;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03]
Trade Name: Cystadrops
Product Name: Cystadrops
INN or Proposed INN: Cysteamine hydrochloride
Other descriptive name: ß-mercaptoethylamine Hydrochloride & 2-aminoethanethiol Hydrochloride
Recordati Rare DiseasesNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
5Phase 3France;Germany;United Kingdom
115NCT04221451
(ClinicalTrials.gov)
June 29, 20206/1/2020A Multinational, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy, Pharmacodynamics, Pharmacokinetics, and Safety of Venglustat in Late-onset GM2A Multicenter, Multinational, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy, Pharmacodynamics, Pharmacokinetics, Safety, and Tolerability of Venglustat in Late-onset GM2 Gangliosidosis (Tay-Sachs Disease and Sandhoff Disease) Together With a Separate Basket for Juvenile/Adolescent Late-onset GM2 Gangliosidosis and Ultra-rare Diseases Within the Same and Similar Glucosylceramide-based Sphingolipid PathwayTay-Sachs Disease Sandhoff DiseaseDrug: venglustat GZ402671;Drug: placeboGenzyme, a Sanofi CompanyNULLActive, not recruiting2 YearsN/AAll74Phase 3United States;Argentina;Austria;Brazil;Czechia;France;Germany;Italy;Japan;Portugal;Russian Federation;Spain;Turkey;United Kingdom
116EUCTR2018-002984-24-IT
(EUCTR)
24/06/202021/10/2020Study to Assess the Safety of Cystadrops® in Pediatric Cystinosis Patients from 6 Months to Less Than 2 Years OldOpen-label, Single-arm, Multicenter Study to Assess the Safety of Cystadrops® in Pediatric Cystinosis Patients from 6 Months to Less Than 2 Years Old - SCOB2 (Study Cystadrops® Ophthalmic for Patients Below 2 years) Nephropatic Cystinosis patients with corneal cystine crystal deposits
MedDRA version: 20.0;Level: LLT;Classification code 10071112;Term: Nephropathic cystinosis;System Organ Class: 100000004850;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03]
Trade Name: Cystadrops
Product Name: Cystadrops
Product Code: [045251016]
INN or Proposed INN: Mercaptamina
Other descriptive name: ß-mercaptoethylamine Hydrochloride & 2-aminoethanethiol Hydrochloride
Recordati Rare DiseasesNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
5Phase 3France;Belgium;Germany;United Kingdom;Italy
117EUCTR2019-002375-34-CZ
(EUCTR)
26/05/202026/05/2020A multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, and safety of venglustat in late-onset GM2A multicenter, multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, safety, and tolerability of venglustat in late-onset GM2 gangliosidosis (Tay-Sachs disease and Sandhoff disease) together with a separate basket for juvenile/adolescent late-onset GM2 gangliosidosis and ultra-rare diseases within the same and similar glucosylceramide-based sphingolipid pathway - AMETHIST Tay-Sachs diseaseSandhoff disease
MedDRA version: 23.0;Level: LLT;Classification code 10043147;Term: Tay-Sachs disease;System Organ Class: 100000004850
MedDRA version: 23.0;Classification code 10081314;Term: Sandhoff disease;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Name: Venglustat
Product Code: GZ402671
INN or Proposed INN: Venglustat
Other descriptive name: Genz-682452-AU
Genzyme CorporationNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
83Phase 3United States;Portugal;Spain;Turkey;Austria;Russian Federation;Italy;United Kingdom;France;Czech Republic;Argentina;Brazil;Germany;Japan
118EUCTR2019-002375-34-PT
(EUCTR)
25/05/202003/12/2019A multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, and safety of venglustat in late-onset GM2A multicenter, multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, safety, and tolerability of venglustat in late-onset GM2 gangliosidosis (Tay-Sachs disease and Sandhoff disease) together with a separate basket for juvenile/adolescent late-onset GM2 gangliosidosis and ultra-rare diseases within the same and similar glucosylceramide-based sphingolipid pathway - AMETHIST Tay-Sachs diseaseSandhoff disease
MedDRA version: 23.0;Level: LLT;Classification code 10043147;Term: Tay-Sachs disease;System Organ Class: 100000004850
MedDRA version: 23.0;Classification code 10081314;Term: Sandhoff disease;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Name: Venglustat
Product Code: GZ402671
INN or Proposed INN: Venglustat
Other descriptive name: Genz-682452-AU
Product Name: Venglustat
Product Code: GZ402671
INN or Proposed INN: Venglustat
Other descriptive name: Genz-682452-AU
Product Name: Venglustat
Product Code: GZ402671
INN or Proposed INN: Venglustat
Other descriptive name: Genz-682452-AU
Genzyme CorporationNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
104Phase 3Portugal;United States;Czechia;Spain;Turkey;Austria;Russian Federation;United Kingdom;Italy;France;Czech Republic;Argentina;Brazil;Germany;Japan
119EUCTR2017-003369-85-IE
(EUCTR)
18/05/202001/07/2019A research study to study the effects of a new oral drug called lucerastat in adults with Fabry diseaseA multicenter, double-blind, randomized, placebo-controlled, parallel-group study to determine the efficacy and safety of lucerastat oral monotherapy in adult subjects with Fabry disease. - MODIFY Fabry disease
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Lucerastat
Product Code: ACT-434964
INN or Proposed INN: Lucerastat
Other descriptive name: OGT923
Idorsia Pharmaceuticals LtdNULLNot RecruitingFemale: yes
Male: yes
99Phase 3United States;Spain;Ireland;Austria;Italy;Switzerland;United Kingdom;Canada;Belgium;Poland;Australia;Germany;Netherlands;Norway
120EUCTR2017-003369-85-ES
(EUCTR)
18/05/202025/05/2020A research study to study the effects of a new oral drug called lucerastat in adults with Fabry diseaseA multicenter, double-blind, randomized, placebo-controlled, parallel-group study to determine the efficacy and safety of lucerastat oral monotherapy in adult subjects with Fabry disease. - MODIFY Fabry disease
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Lucerastat
Product Code: ACT-434964
INN or Proposed INN: Lucerastat
Other descriptive name: OGT923
Idorsia Pharmaceuticals LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
108Phase 3United States;Spain;Ireland;Austria;Russian Federation;United Kingdom;Italy;Switzerland;Canada;Belgium;Poland;Australia;Germany;Netherlands;Norway
121EUCTR2019-002979-34-ES
(EUCTR)
18/05/202025/05/2020A Long-term Follow-up Study of Patients with MPS IIIA from Gene Therapy Clinical Trials Involving the Administration of ABO-102 (scAAV9.U1a.hSGSH)A Long-term Follow-up Study of Patients with MPS IIIA from Gene Therapy Clinical Trials Involving the Administration of ABO-102 (scAAV9.U1a.hSGSH) MPS IIIA is a devastating lysosomal storage disease, caused by a Nsulfoglucosamine sulfohydrolase gene defect. Infants with MPS IIIA appear normal at birth, but the disease is relentlessly progressive, with deterioration of social and adaptive abilities, neurocognitive decline, and premature death. Death typically occurs by end of the second or beginning of the third decade. Quite importantly, there is no treatmentcurrently available for the disease.
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: scAAV9.U1A.hSGSH
Product Code: ABO-102
INN or Proposed INN: Rebisufligene etisparvovec
Abeona Therapeutics IncNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
34Phase 1;Phase 2Germany;United States;France;Spain;Australia
122NCT03687476
(ClinicalTrials.gov)
May 20206/8/2018Safety and Tolerability Study of VTS-270 in Pediatric Participants With Niemann-Pick Type C (NPC) DiseaseAn Open-label, Multicenter Safety and Tolerability Study of VTS-270 (2-hydroxypropyl-ß-cyclodextrin) in Pediatric Subjects Aged < 4 Years With Neurologic Manifestations of Niemann-Pick Type C (NPC) DiseaseNiemann-Pick Disease, Type CDrug: VTS-270Vtesse, Inc., a Mallinckrodt Pharmaceuticals CompanyNULLWithdrawnN/A4 YearsAll0Phase 2NULL
123JPRN-jRCT2021220001
20/04/202013/04/2022A study to evaluate the effect of venglustat tablets on neuropathic and abdominal pain in male and female adult participants with Fabry diseaseA randomized, double-blind, placebo-controlled, 12-month Phase 3 study to evaluate the effect of venglustat on neuropathic and abdominal pain in male and female adults with Fabry disease who are treatment-naive or untreated for at least 6 months Fabry DiseaseDrug: Venglustat (GZ402671)
Pharmaceutical form: Tablet, Route of administration: Oral
Drug: Placebo
Pharmaceutical form: Tablet, Route of administration: Oral
Tanaka TomoyukiNULLRecruiting>= 18age oldNot applicableBoth114Phase 3United States;Japan
124NCT03910621
(ClinicalTrials.gov)
April 2, 20208/3/2019Safety and Efficacy of Miglustat in Chinese NPC PatientsA Single Arm Uncontrolled 12 Months Clinical Study to Evaluate the Safety and Efficacy of Miglustat (Zavesca) for the Treatment of Niemann Pick Type C Disease (NPC) in Chinese SubjectsNiemann-Pick Disease, Type CDrug: MiglustatActelionNULLCompleted4 YearsN/AAll17Phase 4China
125EUCTR2019-004645-32-GB
(EUCTR)
24/03/202031/12/2019A Long-term Follow-up Study of Fabry Disease Subjects Treated with FLT190 (MARVEL 2)A Multicentre, Long-term, Follow-up Study to Investigate the Safety and Durability of Response Following Dosing of an Adeno-associated Viral Vector (FLT190) in Subjects with Fabry Disease - Marvel 2 Fabry disease
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: FLT190
Product Code: FLT190
INN or Proposed INN: NA
Other descriptive name: FLT190
Freeline Therapeutics LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: no
Male: yes
15Phase 2United States;France;Denmark;Norway;Germany;Italy;United Kingdom
126EUCTR2019-002375-34-GB
(EUCTR)
23/03/202027/11/2019A multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, and safety of venglustat in late-onset GM2A multicenter, multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, safety, and tolerability of venglustat in late-onset GM2 gangliosidosis (Tay-Sachs disease and Sandhoff disease) together with a separate basket for juvenile/adolescent late-onset GM2 gangliosidosis and ultra-rare diseases within the same and similar glucosylceramide-based sphingolipid pathway - AMETHIST Tay-Sachs diseaseSandhoff disease
MedDRA version: 23.0;Level: LLT;Classification code 10043147;Term: Tay-Sachs disease;System Organ Class: 100000004850
MedDRA version: 23.0;Classification code 10081314;Term: Sandhoff disease;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Name: Venglustat
Product Code: GZ402671
INN or Proposed INN: Venglustat
Other descriptive name: Genz-682452-AU
Product Name: Venglustat
Product Code: GZ402671
INN or Proposed INN: Venglustat
Other descriptive name: Genz-682452-AU
Product Name: Venglustat
Product Code: GZ402671
INN or Proposed INN: Venglustat
Other descriptive name: Genz-682452-AU
Genzyme CorporationNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
83Phase 3United States;Portugal;Spain;Turkey;Austria;Russian Federation;United Kingdom;Italy;France;Czech Republic;Argentina;Brazil;Germany;Japan
127EUCTR2018-002210-12-BE
(EUCTR)
20/03/202027/03/2020A study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry diseaseA multi-center, open-label, uncontrolled, single-arm, extension study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry disease Fabry disease
MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Lucerastat
Product Code: ACT-434964
INN or Proposed INN: Lucerastat
Other descriptive name: OGT923
Idorsia Pharmaceuticals LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
108Phase 3United States;Spain;Ireland;Austria;Italy;United Kingdom;France;Canada;Belgium;Poland;Australia;Germany;Netherlands;Norway
128JPRN-jRCT2031220250
11/03/202007/08/2022Lon-term study of idursulfase beta in patients with mucopolysaccharidosis type IILon-term study of idursulfase beta in patients with mucopolysaccharidosis type II - CKK001 Mucopolysaccharidosis type II;D016532[Investigative drug, dose, and administration method]
- Investigative drug: Vial formulation filled with idursulfase beta for intracerebroventricular administration
(Concentration 15 +/- 1.5 mg/mL, liquid volume 1.25 mL)
- Dose and administration method:
An implantable cerebrospinal fluid reservoir is attached to the subject's head, and idursulfase beta 30 mg is administered to the ventricles once every 4 weeks.
Yanagi KomeiNULLComplete>= 6month old< 15age oldMale6Phase 3Japan
129EUCTR2019-002375-34-IT
(EUCTR)
04/03/202017/06/2021A multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, and safety ofvenglustat in late-onset GM2A multicenter, multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, safety, and tolerability of venglustat in late-onset GM2 gangliosidosis (Tay-Sachs disease and Sandhoff disease) together with a separate basket for juvenile/adolescent late-onset GM2 gangliosidosis and ultra-rare diseases within the same and similar glucosylceramide-based sphingolipid pathway - AMETHIST Tay-Sachs diseaseSandhoff disease
MedDRA version: 23.0;Level: LLT;Classification code 10043147;Term: Tay-Sachs disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Name: Venglustat
Product Code: [GZ402671]
INN or Proposed INN: Venglustat
Other descriptive name: Genz-682452-AU
Product Name: Venglustat
Product Code: [GZ402671]
INN or Proposed INN: venglustat
Other descriptive name: Genz-682452-AU
Product Name: Venglustat
Product Code: [GZ402671]
INN or Proposed INN: Venglustat
Other descriptive name: Genz-682452-AU
GENZYME CORPORATIONNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
83Phase 3United States;Portugal;Czechia;Spain;Turkey;Austria;Russian Federation;Italy;United Kingdom;France;Czech Republic;Argentina;Brazil;Germany;Japan
130NCT04281537
(ClinicalTrials.gov)
March 1, 20207/2/2020A Study to Describe the Experience of Both Patients and Their Clinicians in the Treatment of Fabry Disease With Enzyme Replacement Therapy.A Multi-country Time and Motion Study to Describe the Experience of Clinicians, Patients and Their Caregivers During the Treatment of Fabry Disease With Enzyme Replacement Therapy With Agalsidase Alfa and Agalsidase BetaFabry DiseaseDrug: Agalsidase Beta;Drug: Agalsidase AlphaAmicus TherapeuticsNULLCompleted18 YearsN/AAll76United States;Brazil;Japan;Taiwan;Turkey
131NCT04539340
(ClinicalTrials.gov)
February 28, 202028/8/2020A Multi-cohort Study of the Tolerance, Safety, and Pharmacokinetics of GNR-055 in Healthy VolunteersAn Open-label Multi-cohort Dose-escalation Study to Evaluate the Tolerance, Safety, and Pharmacokinetics of GNR-055 (GENERIUM JSC, Russia) in Healthy Volunteers With a Single Intravenous AdministrationMucopolysaccharidosis Type II;Metabolic DiseasesBiological: GNR-055AO GENERIUMNULLCompleted18 Years50 YearsMale20Phase 1Russian Federation
132EUCTR2018-002097-51-DE
(EUCTR)
12/02/202028/02/2019A Fabry Disease Gene Therapy StudyA Phase 1/2, Baseline-controlled, Non-randomised, Open-label, Single-ascending Dose Study of a Novel Adeno-associated Viral Vector (FLT190) in Patients With Fabry disease - MARVEL1 Fabry disease
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: FLT190
Product Code: FLT190
INN or Proposed INN: NA
Other descriptive name: FLT190
Freeline Therapeutics LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: no
Male: yes
12Phase 1;Phase 2Austria;Norway;United States;Denmark;Italy;United Kingdom;France;Germany;Spain
133EUCTR2017-000146-21-IT
(EUCTR)
30/01/202023/10/2020AN OPEN-LABEL STUDY OF THE SAFETY, PHARMACOKINETICS, PHARMACODYNAMICS, AND EFFICACY OF 12-MONTH TREATMENT WITH MIGALASTAT IN PEDIATRIC SUBJECTS (AGED 12 TO <18 YEARS) WITH FABRY DISEASE AND AMENABLE GLA VARIANTSAN OPEN-LABEL STUDY OF THE SAFETY, PHARMACOKINETICS, PHARMACODYNAMICS, AND EFFICACY OF 12-MONTH TREATMENT WITH MIGALASTAT IN PEDIATRIC SUBJECTS (AGED 12 TO <18 YEARS) WITH FABRY DISEASE AND AMENABLE GLA VARIANTS - ASPIRE Fabry disease and with amenable GLA variants
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Trade Name: Galafold
Product Name: Migalastat
Product Code: [AT1001]
INN or Proposed INN: migalastat
Other descriptive name: MIGALASTAT HYDROCHLORIDE
Amicus Therapeutics UK, LtdNULLNAFemale: yes
Male: yes
20Phase 3United States;Spain;Australia;Germany;United Kingdom;Italy
134NCT04787887
(ClinicalTrials.gov)
January 29, 20204/3/2021A Phase I Study to Compare Abcertin and EU-sourced Cerezyme® in Healthy VolunteersA Randomized, Double-blind, 2-treatment, 2-period, Crossover Phase I Study to Compare the PK, Safety and Tolerability of 60 IU/kg of Abcertin, and EU-sourced Cerezyme® in Healthy Volunteers Following a Single Intravenous AdministrationGaucher DiseaseDrug: Abcertin;Drug: EU-sourced CerezymeISU Abxis Co., Ltd.NULLCompleted18 Years45 YearsAll42Phase 1Australia
135EUCTR2018-001148-67-SI
(EUCTR)
09/01/202003/04/2019Safety and Efficacy study assessing Pegunigalsidase Alfa (PRX-102) in Patients With Fabry DiseaseOpen Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102) in Patients With Fabry Disease
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: PEGUNIGALSIDASE ALFA
Protalix Ltd.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
110Phase 3United States;Slovenia;Spain;Turkey;Italy;Switzerland;United Kingdom;Czech Republic;Hungary;Canada;Argentina;Belgium;Brazil;Australia;Norway;Netherlands
136EUCTR2018-003291-12-DE
(EUCTR)
08/01/202006/06/2019Research study to determine the effects of an investigational drug, SHP611 on patients with with Late Infantile Metachromatic Leukodystrophy (MLD) specially the gross motor function, using the Gross Motor Function Classification in Metachromatic Leukodystrophy (GMFC-MLD) compared with matched historical control data in children with MLD.A Global, Multicenter, Open-label, Matched Historical Control Study of Intrathecal SHP611 in Subjects with Late Infantile Metachromatic Leukodystrophy Late Metachromatic Leukodystrophy (MLD)
MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Code: SHP611
Other descriptive name: RECOMBINANT HUMAN ARYLSULFATASE A
Shire Human Genetic Therapies, Inc.NULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
42 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noFrance;United States;Mexico;Canada;Brazil;Belgium;Spain;Israel;Netherlands;Germany;Japan;United Kingdom
137NCT04201405
(ClinicalTrials.gov)
January 7, 20205/12/2019Gene Therapy With Modified Autologous Hematopoietic Stem Cells for Patients With Mucopolysaccharidosis Type IIIAA Phase I-II, Study of Autologous CD34+ Haematopoietic Stem Cells Transduced ex Vivo With CD11b Lentiviral Vector Encoding for Human SGSH in Patients With Mucopolysaccharidosis Type IIIA (MPS IIIa, Sanfilippo Syndrome Type A)Mucopolysaccharidosis Type IIIADrug: Autologous CD34+ cells transduced with a lentiviral vector containing the human SGSH geneUniversity of ManchesterOrchard Therapeutics;CTI Clinical Trial and Consulting Services;University College, London;Great Ormond Street Hospital for Children NHS Foundation Trust;Manchester University NHS Foundation TrustActive, not recruiting3 Months24 MonthsAll5Phase 1/Phase 2United Kingdom
138JPRN-jRCT2051190085
06/01/202019/12/2019A long-term study of beta-glucuronidase enzyme replacement therapy for Sly diseaseA long-term, open label, extension study to assess the efficacy and safety of beta-glucuronidase enzyme replacement therapy in Japanese patients with mucopolysaccharidosis type VII, Sly disease Mucopolysaccharidosis type VII
Mucopolysaccharidosis VII, Sly syndrome, beta-glucuronidase, vestronidase alfa;D016538
Investigational drug: Vestronidase alfa [Recombinant human beta-glucuronidase (rhGUS)], 4 mg/kg, IV, QOWHamazaki TakashiNULLRecruitingNot applicableNot applicableBoth4Phase 3Japan
139EUCTR2015-003904-21-FR
(EUCTR)
23/12/201911/09/2019Gene transfer clinical trial for Mucopolysaccharidosis IIIAPhase I/II gene transfer clinical trial of scAAV9.U1a.hSGSH for Mucopolysaccharidosis (MPS) IIIA MPS IIIA is a devastating lysosomal storage disease, caused by a N-sulfoglucosamine sulfohydrolase gene defect. Infants with MPS IIIA appear normal at birth, but the disease is relentlessly progressive, with deterioration of social and adaptive abilities, neurocognitive decline, and premature death. Death typically occurs by end of the second or beginning of the third decade. Quite importantly, there is no treatment currently available for the disease.
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: scAAV9.U1A.hSGSH
Product Code: ABO-102
INN or Proposed INN: rebisufligene etisparvovec
Other descriptive name: scAAV9.U1A.hSGSH
Abeona Therapeutics IncNULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
22 Human pharmacology (Phase 1): yes Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noUnited States;France;Brazil;Spain;Australia;Germany;United Kingdom
140EUCTR2019-000064-21-GB
(EUCTR)
20/12/201911/02/2020To assess the glycosphingolipid clearance and clinical benefits of agalsidase beta in male patients with classic Fabry disease switching from agalsidase alfaA randomized, open-label, active comparator, 2-arm, prospective study to assess the glycosphingolipid clearance and clinical effects of switching to agalsidase beta (Fabrazyme®) versus continuing on agalsidase alfa (Replagal) in male patients with classic Fabry disease. - Fabry study with Fabrazyme and Replagal Fabry's disease
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Trade Name: Fabrazyme
Product Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Trade Name: Replagal
Product Name: Replagal
INN or Proposed INN: AGALSIDASE ALFA
Sanofi Aventis Groupe (SAG)NULLNot RecruitingFemale: no
Male: yes
35Phase 4France;Czech Republic;Canada;Spain;Turkey;Denmark;Austria;Norway;Germany;Italy;United Kingdom
141EUCTR2018-000195-15-DE
(EUCTR)
16/12/201922/10/2018An Open-Label study with only one arm of treatment that will be carried out in different international sites of Intracerebral Administration of study drug for the Treatment of Sanfilippo syndrome type AAn Open-Label, Single-Arm, Multicenter Study of Intracerebral Administration of Adeno-Associated Viral Vectors Serotype rh10 Carrying the Human N-sulfoglucosamine sulfohydrolase (SGSH) cDNA for the Treatment of Mucopolysaccharidosis Type IIIA Mucopolysaccharidosis Type IIIA
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: LYS-SAF302
Product Code: LYS-SAF302
INN or Proposed INN: OLENASUFLIGENE RELDUPARVOVEC
Other descriptive name: LYS-SAF302
Lysogene SANULLNot RecruitingFemale: yes
Male: yes
20Phase 2;Phase 3France;United States;Netherlands;Germany;United Kingdom
142EUCTR2019-002636-82-IT
(EUCTR)
02/12/201930/07/2019A clinical trial to evaluate the effect of OTL-200, a gene therapy treatment in patients with Late Juvenile (LJ) Metachromatic Leukodystrophy (MLD)An open label, non-randomised trial to evaluate the safety and efficacy of a single infusion of OTL-200 in patients with Late Juvenile (LJ) Metachromatic Leukodystrophy (MLD) Metachromatic Leukodystrophy
MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Code: OTL-200
INN or Proposed INN: Not Applicable
Other descriptive name: OTL-200 Dispersion for Infusion
Orchard Therapeutics (Europe) LimitedNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
6Phase 3Italy
143EUCTR2017-002806-10-NL
(EUCTR)
29/11/201908/11/2018An open, non-controlled, parallel, ascending multiple-dose, multicenter study to assess the safety, tolerability, pharmacokinetics and pharmacodynamics of SOBI003 in pediatric MPS IIIA patientsAn open, non-controlled, parallel, ascending multiple-dose, multicenter study to assess the safety, tolerability, pharmacokinetics and pharmacodynamics of SOBI003 in pediatric MPS IIIA patients Mucopolysaccharidosis Type IIIA or Sanfilippo Syndrome
MedDRA version: 20.1;Level: LLT;Classification code 10028094;Term: Mucopolysaccharidosis IH;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Chemically modified recombinant human sulfamidase
Product Code: SOBI003
INN or Proposed INN: not applicable
Other descriptive name: CHEMICALLY MODIFIED RECOMBINANT HUMAN SULFAMIDASE
Swedish Orphan Biovitrum AB (publ)NULLNot RecruitingFemale: yes
Male: yes
9Phase 1United States;Turkey;Germany;Netherlands
144JPRN-jRCTs061190017
21/11/201926/09/2019Japan-Ambroxol Chaperone Study2 cohort, Non-randomized, Multi-site Study to Evaluate the Efficacy and Safety of Chaperone Therapy with Ambroxol Hydrochloride in Patients with Neuronopathic Gaucher disease - J-ACT Neuronopathic Gaucher diseaseAmbroxol will be given.Narita AyaNULLRecruitingNot applicableNot applicableBoth25Phase 3Japan
145EUCTR2019-000667-24-GB
(EUCTR)
12/11/201919/03/2019A Phase I/II Study to Assess the Safety and Tolerability of ST-920, a rAAV2/6 Human Alpha Galactosidase A Gene Therapy, in Subjects with Fabry DiseaseA Phase I/II, Multicenter, Open-Label, SingleDose, Dose-Ranging Study to Assess the Safety and Tolerability of ST-920, a rAAV2/6 Human Alpha Galactosidase A Gene Therapy in Subjects with Fabry Disease Fabry Disease (X-linked lysosomal storage disease)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Recombinant Adeno-associated virus 2/6 vector encoding the cDNA for human alpha galactosidase A
Product Code: ST-920
INN or Proposed INN: Not yet assigned
Other descriptive name: Adeno-associated virus serotype 2/6 encoding human alpha-galactosidase A cDNA
Sangamo Therapeutics, Inc.NULLAuthorised-recruitment may be ongoing or finished Female: no
Male: yes
30 Human pharmacology (Phase 1): yes Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noUnited States;United Kingdom
146EUCTR2018-003291-12-GB
(EUCTR)
12/11/201918/06/2019Research study to determine the effects of an investigational drug, SHP611 on patients with with Late Infantile Metachromatic Leukodystrophy (MLD) specially the gross motor function, using the Gross Motor Function Classification in Metachromatic Leukodystrophy (GMFC-MLD) compared with matched historical control data in children with MLD.A Global, Multicenter, Open-label, Matched Historical Control Study of Intrathecal SHP611 in Subjects with Late Infantile Metachromatic Leukodystrophy Late Metachromatic Leukodystrophy (MLD)
MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Code: SHP611
Other descriptive name: RECOMBINANT HUMAN ARYLSULFATASE A
Shire Human Genetic Therapies, Inc.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
42Phase 2France;United States;Mexico;Canada;Brazil;Belgium;Spain;Israel;Netherlands;Germany;Japan;United Kingdom
147EUCTR2018-001148-67-HU
(EUCTR)
07/11/201908/11/2019Safety and Efficacy study assessing Pegunigalsidase Alfa (PRX-102) in Patients With Fabry DiseaseOpen Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102) in Patients With Fabry Disease
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: PEGUNIGALSIDASE ALFA
Protalix Ltd.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
110Phase 3United States;Slovenia;Spain;Turkey;Italy;Switzerland;United Kingdom;Hungary;Czech Republic;Canada;Argentina;Belgium;Brazil;Australia;Norway;Netherlands
148EUCTR2018-001947-30-IT
(EUCTR)
31/10/201901/09/2021Safety and Efficacy study assessing Pegunigalsidase Alfa (PRX-102) Administered by Intravenous Infusion Every 4 Weeks in Patients With Fabry DiseaseOpen Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102) 2 mg/kg Administered by Intravenous Infusion Every 4 Weeks in Patients with Fabry Disease - PB-102-F51 Fabry disease (a-galactosidase A deficiency)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: [PRX-102]
INN or Proposed INN: PEGUNIGALSIDASE ALFA
PROTALIX LTDNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
40Phase 3United States;Czechia;Taiwan;Finland;Spain;Turkey;United Kingdom;Italy;France;Canada;Belgium;Australia;Denmark;Netherlands;Norway;Sweden
149EUCTR2018-002984-24-GB
(EUCTR)
25/10/201915/07/2019Open-label, Single-arm, Multicenter Study to Assess the Safety of, Cystadrops® in Pediatric Cystinosis Patients,from 6 Months to Less Than 2 Years Old [SCOB2 Study]Open-label, Single-arm, Multicenter Study to Assess the Safety of Cystadrops® in Pediatric Cystinosis Patients from 6 Months to Less Than 2 Years Old [SCOB2 Study] - SCOB2 Corneal cystine crystal deposits in pediatric patients withnephropathic cystinosis from 6 months to less than 2 years old;Therapeutic area: Diseases [C] - Eye Diseases [C11]Trade Name: Cystadrops
Product Name: Cystadrops
INN or Proposed INN: Mercaptamine hydrochloride
Other descriptive name: Cysteamine hydrochloride
RECORDATI Rare Diseases SARLNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
5Phase 3France;United Kingdom
150EUCTR2019-002051-42-GB
(EUCTR)
25/10/201909/04/2020A study testing a gene therapy to treat mucopolysaccharidosis type IIIA (MPS IIIA, Sanfilippo syndrome type A)A phase I-II, study of autologous CD34+ haematopoietic stem cells transduced ex vivo with CD11b lentiviral vector encoding for human SGSH in patients with mucopolysaccharidosis type IIIA (MPS IIIA, Sanfilippo syndrome type A) MPS IIIA, mucopolysaccharidosis type IIIA
MedDRA version: 20.1;Level: PT;Classification code 10028093;Term: Mucopolysaccharidosis;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: CRYOPRESERVED AUTOLOGOUS CD34+ CELLS TRANSDUCED WITH A LENTIVIRAL VECTOR CONTAINING HUMAN SGSH GENE
INN or Proposed INN: no recommended INN
Other descriptive name: AUTOLOGOUS CD34+ CELLS TRANSDUCED WITH A LENTIVIRAL VECTOR CONTAINING THE HUMAN SGSH GENE
University of ManchesterNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
5Phase 1;Phase 2United Kingdom
151EUCTR2018-003291-12-NL
(EUCTR)
24/10/201910/04/2019Research study to determine the effects of an investigational drug, SHP611 on patients with with Late Infantile Metachromatic Leukodystrophy (MLD) specially the gross motor function, using the Gross Motor Function Classification in Metachromatic Leukodystrophy (GMFC-MLD) compared with matched historical control data in children with MLD.A Global, Multicenter, Open-label, Matched Historical Control Study of Intrathecal SHP611 in Subjects with Late Infantile Metachromatic Leukodystrophy Late Metachromatic Leukodystrophy (MLD)
MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Code: SHP611
INN or Proposed INN: N/A
Other descriptive name: RECOMBINANT HUMAN ARYLSULFATASE A
Shire Human Genetic Therapies, Inc.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
42Phase 2United States;Japan;United Kingdom;Spain;Greece;Canada;Netherlands;Belgium;Brazil;Denmark;Mexico;Italy;Israel;France;Germany
152EUCTR2018-001947-30-DK
(EUCTR)
22/10/201913/06/2019Safety and Efficacy study assessing Pegunigalsidase Alfa (PRX-102) Administered by Intravenous Infusion Every 4 Weeks in Patients With Fabry DiseaseOpen Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102) 2 mg/kg Administered by Intravenous Infusion Every 4 Weeks in Patients with Fabry Disease
MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: PEGUNIGALSIDASE ALFA
Protalix Ltd.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
40Phase 3United States;Czechia;Belgium;Denmark;Norway;United Kingdom;Italy
153JPRN-JapicCTI-194975
01/10/201927/09/2019An multicenter open-label long-term continuous administration study to investigate the safety and tolerability of lucerastat in Japanese Fabry disease patientsAn multicenter open-label long-term continuous administration study to investigate the safety and tolerability of lucerastat in Japanese Fabry disease patients Fabry diseaseIntervention name : Lucerastat
INN of the intervention : lucerastat
Dosage And administration of the intervention : 1000 mg twice daily
Control intervention name : -
INN of the control intervention : -
Dosage And administration of the control intervention : -
Idorsia Pharmaceuticals Japan LtdNULLother16BOTH20Phase 3Japan
154NCT03228940
(ClinicalTrials.gov)
September 30, 201918/7/2017Safety and Effect of Oral RVX000222 in Subjects With Fabry DiseaseAn Open-Label Study to Assess the Safety and Effect on Key Biomarkers of Oral RVX000222 in Subjects With Fabry DiseaseFabry DiseaseDrug: RVX000222Resverlogix CorpNULLNot yet recruiting18 Years75 YearsAll16Phase 1/Phase 2Canada
155NCT04088734
(ClinicalTrials.gov)
September 18, 201911/9/2019Gene Transfer Study of ABO-102 in Patients With Middle and Advanced Phases of MPS IIIA DiseaseA Phase I/II Open Label, Single-dose, Gene Transfer Study of scAAV9.U1a.hSGSH (ABO-102) in Patients With Middle and Advanced Phases of MPS IIIA DiseaseMPS IIIA;Sanfilippo Syndrome;Sanfilippo A;Mucopolysaccharidosis IIIDrug: ABO-102Ultragenyx Pharmaceutical IncAbeona Therapeutics, IncTerminated2 Years18 YearsAll5Phase 1/Phase 2United States;Australia;Spain
156NCT03759639
(ClinicalTrials.gov)
September 4, 201927/11/2018N-Acetyl-L-Leucine for Niemann-Pick Disease, Type C (NPC)Effects of N-Acetyl-L-Leucine on Niemann Pick Type C Disease: A Multinational, Multicenter, Open-label, Rater-blinded Phase II Study.Niemann-Pick Disease, Type CDrug: IB1001IntraBio IncNULLActive, not recruiting6 YearsN/AAll34Phase 2United States;Germany;Slovakia;Spain;United Kingdom
157NCT04348136
(ClinicalTrials.gov)
September 1, 201918/12/2019An Extension Study of JR-141 in Patients With Mucopolysaccharidosis Type IIAn Extension Study of JR-141 in Patients With Mucopolysaccharidosis Type IIMucopolysaccharidosis IIDrug: JR-141JCR Pharmaceuticals Co., Ltd.NULLActive, not recruitingN/AN/AMale27Phase 2/Phase 3Japan
158EUCTR2017-000146-21-GB
(EUCTR)
29/08/201922/03/2019ASPIRE Paediatric Fabry StudyAN OPEN-LABEL STUDY OF THE SAFETY, PHARMACOKINETICS, PHARMACODYNAMICS, AND EFFICACY OF 12-MONTH TREATMENT WITH MIGALASTAT IN PEDIATRIC SUBJECTS (AGED 12 TO <18 YEARS) WITH FABRY DISEASE AND AMENABLE GLA VARIANTS Fabry disease and with amenable GLA variants
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Trade Name: Galafold
Product Name: Migalastat
Product Code: AT1001
INN or Proposed INN: migalastat
Other descriptive name: MIGALASTAT HYDROCHLORIDE
Amicus Therapeutics, UK LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
20Phase 3United States;Spain;Australia;Germany;Italy;United Kingdom
159NCT03952637
(ClinicalTrials.gov)
August 19, 201915/5/2019A Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 GangliosidosisA Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 GangliosidosisLysosomal Diseases;Gangliosidosis;GM1Biological: AAV9-GLB1;Procedure: Abdominal ultrasound;Drug: Rituximab;Drug: Sirolimus;Drug: Methylprednisolone;Drug: Prednisone;Diagnostic Test: Audiology assessment with ABR;Diagnostic Test: Bone density scan (DEXA);Diagnostic Test: Electrocardiogram (EKG);Diagnostic Test: Echocardiogram;Other: Electroencephalogram (EEG) awake and extended overnight;Diagnostic Test: Laboratory tests;Procedure: Lumbar puncture;Procedure: Brain MRI/MRS/fMRI;Behavioral: Neurocognitive testing;Other: Neurology exam;Behavioral: PICC or other Central line placement;Procedure: Skeletal survey;Procedure: Skin biopsy;Procedure: Speech and modified barium swallow study;Procedure: Ophthalmology examNational Human Genome Research Institute (NHGRI)Sio Gene TherapiesActive, not recruiting6 Months12 YearsAll16Phase 1/Phase 2United States
160NCT04069260
(ClinicalTrials.gov)
August 2, 201916/8/2019A Phase 2 Study of ELX-02 in Patients With Nephropathic CystinosisA Phase 2, Single Center, Open-Label, Multiple Dose Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Daily Subcutaneously Administered ELX-02 in Patients With Nephropathic Cystinosis Bearing One or More CTNS Gene (Cystinosin) Nonsense MutationsGenetic Disease;Nonsense Mutation;CystinosisDrug: ELX-02Eloxx Pharmaceuticals, Inc.NULLTerminated12 YearsN/AAll3Phase 2Canada
161NCT03021941
(ClinicalTrials.gov)
July 31, 201923/9/2016Pharmacokinetics, Pharmacodynamics And Safety Study Of Elelyso(tm) In Pediatric Subjects With Type 1 Gaucher DiseaseA MULTICENTER, OPEN LABEL, PHARMACOKINETICS, PHARMACODYNAMICS AND SAFETY STUDY OF ELELYSO(TM) (TALIGLUCERASE ALFA) IN PEDIATRIC SUBJECTS WITH TYPE 1 GAUCHER DISEASEType 1 Gaucher DiseaseDrug: Elelyso 60 units/kgPfizerNULLWithdrawnN/A12 YearsAll0Phase 4United States
162NCT04046224
(ClinicalTrials.gov)
July 23, 20191/8/2019Dose-Ranging Study of ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy in Subjects With Fabry DiseaseA Phase I/II, Multicenter, Open-Label, Single-Dose, Dose-Ranging Study to Assess the Safety and Tolerability of ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy, in Subjects With Fabry DiseaseFabry DiseaseBiological: ST-920Sangamo TherapeuticsNULLRecruiting18 YearsN/AAll48Phase 1/Phase 2United States;Australia;Canada;Germany;Italy;Taiwan;United Kingdom
163NCT03897361
(ClinicalTrials.gov)
July 8, 20196/2/2019Stem Cell Gene Therapy for CystinosisA Phase 1/2 Study to Determine Safety and Efficacy of Transplantation With Autologous Human CD34+ Hematopoietic Stem Cells (HSC) From Mobilized Peripheral Blood Stem Cells (PBSC) of Patients With Cystinosis Modified by Ex Vivo Transduction Using pCCL-CTNS or pCDY.EFS.CTNS.T260I Lentiviral VectorLysosomal Storage Diseases;CystinosisGenetic: CTNS-RD-04 or CTNS-RD-04-LB (where the suffix -LB stands for LentiBOOST)University of California, San DiegoCalifornia Institute for Regenerative Medicine (CIRM);Cystinosis Research FoundationRecruiting18 YearsN/AAll6Phase 1/Phase 2United States
164NCT04040049
(ClinicalTrials.gov)
July 8, 201926/7/2019A Fabry Disease Gene Therapy StudyA Phase 1/2, Baseline-controlled, Non-randomized, Open-label, Single-ascending Dose Study of a Novel Adeno-associated Viral Vector (FLT190) in Patients With Fabry DiseaseFabry Disease;Lysosomal Storage DiseasesGenetic: FLT190Freeline TherapeuticsNULLRecruiting18 YearsN/AMale15Phase 1/Phase 2United States;Austria;Canada;Germany;Italy;Norway;United Kingdom
165EUCTR2018-002097-51-IT
(EUCTR)
26/06/201919/01/2021A Fabry Disease Gene Therapy Study (MARVEL 1)A Phase 1/2, Baseline-controlled, Non-randomised, Open-label, Singleascending Dose Study of a Novel Adeno-associated Viral Vector (FLT190) in Patients With Fabry disease - MARVEL1 Fabry disease
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: FLT190
Product Code: [FLT190]
Other descriptive name: FLT190
Freeline Therapeutics LimitedNULLAuthorised-recruitment may be ongoing or finishedFemale: no
Male: yes
12Phase 1;Phase 2France;United States;Denmark;Norway;Germany;United Kingdom;Italy
166EUCTR2014-001411-39-DE
(EUCTR)
24/06/201929/10/2018Gene transfer clinical trial for Mucopolysaccharidosis IIIBPhase I/II gene transfer clinical trial of rAAV9.CMV.hNAGLU for Mucopolysaccharidosis (MPS) IIIB MPS IIIB is a devastating lysosomal storage disease, caused by a N-a-acetylglucosaminidase (NAGLU) gene defect. Infants with MPS IIIB appear normal at birth, but the disease is relentlessly progressive, with deterioration of social and adaptive abilities, neurocognitive decline, and premature death. Death typically occurs by end of the second or beginning of the third decade. Quite importantly, there is no treatment currently available for the disease.
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: rAAV9.CMV.hNAGLU
Product Code: ABO-101
INN or Proposed INN: rAAV9.CMV.hNAGLU
Other descriptive name: rAAV9.CMV.hNAGLU
Abeona Therapeutics Europe SL.NULLNot RecruitingFemale: yes
Male: yes
20Phase 1;Phase 2United States;France;Spain;Germany;United Kingdom
167EUCTR2018-001148-67-NL
(EUCTR)
21/06/201924/07/2019Safety and Efficacy study assessing Pegunigalsidase Alfa (PRX-102) in Patients With Fabry DiseaseOpen Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102)in Patients With Fabry Disease
MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: PEGUNIGALSIDASE ALFA
Protalix Ltd.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
110Phase 3United States;Czechia;Slovenia;Finland;Spain;Italy;United Kingdom;France;Czech Republic;Hungary;Canada;Australia;Netherlands;Norway
168EUCTR2018-004406-25-GB
(EUCTR)
20/06/201906/02/2020To demonstrate that N-Acetyl-L-Leucine is effective in improving symptoms, functioning and quality of life in patients with GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease).Effects of N-Acetyl-L-Leucine on GM2 Gangliosidosis (Tay-Sachs and SandhoffDisease): A multinational, multicenter, open-label, rater-blinded Phase II study - IB1001-202 To demonstrate that N-Acetyl-L-Leucine is effective in improvingsymptoms, functioning, and quality of life in patients GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease).
MedDRA version: 20.0;Level: PT;Classification code 10043147;Term: Tay-Sachs disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 21.1;Classification code 10081314;Term: Sandhoff disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Name: N-Acetyl-L-Leucine
Product Code: IB1001
INN or Proposed INN: SUB195712
Other descriptive name: N-Acetyl-L-Leucine
Product Name: N-Acetyl-L-Leucine
Product Code: IB1001
INN or Proposed INN: N-Acetyl-L-leucine
Other descriptive name: N-Acetyl-L-Leucine
IntraBio LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
39Phase 2United States;Spain;Germany;United Kingdom
169EUCTR2018-004331-71-GB
(EUCTR)
20/06/201914/01/2019To demonstrate that N-Acetyl-L-Leucine is effective in improving symptoms, functioning and quality of life in patients with Niemann-Pick Type C disease (NPC).Effects of N-Acetyl-L-Leucine on Niemann-Pick disease type C: A multinational,multicenter, open-label, rater-blinded Phase II study. - IB1001-201Effects of N-Acetyl-L-Leucine on Niemann-Pick type C Disease To demonstrate that N-Acetyl-L-Leucine is effective in improvingsymptoms, functioning, and quality of life in patients withNiemann-Pick Type C disease (NPC).
MedDRA version: 20.0;Level: PT;Classification code 10029403;Term: Niemann-Pick disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Name: N-Acetyl-L-Leucine
Product Code: IB1001
INN or Proposed INN: SUB195712
Other descriptive name: N-Acetyl-L-Leucine
Product Name: N-Acetyl-L-Leucine
Product Code: IB1001
INN or Proposed INN: N-Acetyl-L-leucine
Other descriptive name: N-Acetyl-L-Leucine
IntraBio LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
39Phase 2United States;United Kingdom;Slovakia;Germany;Spain
170EUCTR2018-004331-71-ES
(EUCTR)
10/06/201922/01/2019A safety and efficacy study of N-Acetyl-L-Leucine on Niemann-Pick type C Disease.Effects of N-Acetyl-L-Leucine on Niemann-Pick type C Disease (NPC): A multinational, multi-center, open-label, rater-blinded Phase II study Niemann-Pick Disease type C (NPC)
MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: N Acetyl L Leucine
Product Code: IB1001
INN or Proposed INN: N Acetyl L leucine
Other descriptive name: 2(S)-(ACETYLAMINO)-4-METHYLPENTANOIC ACID
IntraBio LtdNULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
39 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noUnited States;Slovakia;Spain;Germany;United Kingdom
171EUCTR2018-004406-25-ES
(EUCTR)
10/06/201912/04/2019A safety and efficacy study of N-Acetyl-L-Leucine on GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease).Effects of N-Acetyl-L-Leucine on GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease): A multinational, multicenter, open-label, rater-blinded Phase II study. GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease)
MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: N-Acetyl-L-Leucine
Product Code: IB1001
INN or Proposed INN: N Acetyl L leucine
Other descriptive name: 2(S)-(ACETYLAMINO)-4-METHYLPENTANOIC ACID
IntraBio LtdNULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
39 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noUnited States;Spain;Germany;United Kingdom
172NCT03759665
(ClinicalTrials.gov)
June 7, 201927/11/2018N-Acetyl-L-Leucine for GM2 Gangliosdisosis (Tay-Sachs and Sandhoff Disease)Effects of N-Acetyl-L-Leucine on GM2 Gangliosdisosis (Tay-Sachs and Sandhoff Disease): A Multinational, Multicenter, Open-label, Rater-blinded Phase II StudyGM2 Gangliosidosis;Tay-Sachs Disease;Sandhoff DiseaseDrug: IB1001IntraBio IncNULLCompleted6 YearsN/AAll30Phase 2United States;Germany;Spain;United Kingdom
173EUCTR2018-004331-71-SK
(EUCTR)
04/06/201930/01/2019A safety and efficacy study of N-Acetyl-L-Leucine on Niemann-Pick type C Disease.Effects of N-Acetyl-L-Leucine on Niemann-Pick disease type C: A multinational,multicenter, open-label, rater-blinded Phase II study. Niemann-Pick Disease type C (NPC)
MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.0;Level: PT;Classification code 10029403;Term: Niemann-Pick disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: N-Acetyl-L-Leucine
Product Code: IB1001
INN or Proposed INN: N-Acetyl-L-Leucine
Other descriptive name: 2(S)-(ACETYLAMINO)-4-METHYLPENTANOIC ACID
Product Name: N-Acetyl-L-Leucine
Product Code: IB1001
INN or Proposed INN: N-Acetyl-L-Leucine
Other descriptive name: 2(S)-(ACETYLAMINO)-4-METHYLPENTANOIC ACID
IntraBio LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
39Phase 2United States;Slovakia;Spain;Germany;United Kingdom
174NCT04145037
(ClinicalTrials.gov)
May 30, 201927/8/2019Lentiviral Vector Gene Therapy - The Guard1 Trial of AVR-RD-02 for Subjects With Type 1 Gaucher DiseaseThe Guard1 Trial, an Open-Label, Multinational Phase 1/2 Study of the Safety and Efficacy of Ex Vivo, Lentiviral Vector-Mediated Gene Therapy AVR-RD-02 for Subjects With Type 1 Gaucher DiseaseGaucher DiseaseDrug: AVR-RD-02AVROBIONULLRecruiting18 Years50 YearsAll16Phase 1/Phase 2United States;Australia;Canada
175EUCTR2018-000195-15-GB
(EUCTR)
28/05/201919/09/2018An Open-Label study with only one arm of treatment that will be carried out in different international sites of Intracerebral Administration of study drug for the Treatment of Sanfilippo syndrome type AAn Open-Label, Single-Arm, Multicenter Study of Intracerebral Administration of Adeno-Associated Viral Vectors Serotype rh10 Carrying the Human N-sulfoglucosamine sulfohydrolase (SGSH) cDNA for the Treatment of Mucopolysaccharidosis Type IIIA Mucopolysaccharidosis Type IIIA
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: LYS-SAF302
Product Code: LYS-SAF302
INN or Proposed INN: OLENASUFLIGENE RELDUPARVOVEC
Other descriptive name: LYS-SAF302
Lysogene SANULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
20Phase 2;Phase 3Germany;United Kingdom;United States;France;Netherlands
176EUCTR2018-001947-30-GB
(EUCTR)
27/05/201924/10/2019Safety and Efficacy study assessing Pegunigalsidase Alfa (PRX-102) Administered by Intravenous Infusion Every 4 Weeks in Patients With Fabry DiseaseOpen Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102) 2 mg/kg Administered by Intravenous Infusion Every 4 Weeks in Patients with Fabry Disease - PB-102-F51
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: PEGUNIGALSIDASE ALFA
Protalix Ltd.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
40Phase 3United States;Taiwan;Spain;Turkey;United Kingdom;Italy;Czech Republic;Canada;Belgium;Australia;Denmark;Netherlands;Norway
177NCT03893071
(ClinicalTrials.gov)
May 23, 201920/2/2019Open-Label Study of Long-Term Safety and Efficacy of Intravenous Trappsol Cyclo (HPßCD) in Niemann-Pick Disease Type CAn Open-Label Extension Study of the Long-Term Safety and Efficacy of Intravenous Trappsol® Cyclo (HP-ß-CD) in Patients With Niemann-Pick Disease Type C (NPC-1)Niemann-Pick Disease, Type C1Drug: Hydroxypropyl-ß-cyclodextrinCyclo Therapeutics, Inc.NULLActive, not recruiting18 YearsN/AAll12Phase 1United States
178EUCTR2018-000504-42-ES
(EUCTR)
21/05/201909/04/2018Gene Therapy Clinical Trial for Mucopolysaccharidosis IIIA in patient with middle and advanced phases of the diseaseA Phase I/II Open Label, Single-dose, Gene Transfer Study of scAAV9.U1a.hSGSH (ABO-102) in Patients with Middle and Advanced Phases of MPS IIIA Disease - ABO-102 for Treatment of Middle and Advanced Phases of MPS IIIA MPS IIIA is a devastating lysosomal storage disease, caused by a Nsulfoglucosamine sulfohydrolase gene defect. Infants with MPS IIIA appear normal at birth, but the disease is relentlessly progressive, withdeterioration of social and adaptive abilities, neurocognitive decline, and premature death. Death typically occurs by end of the second or beginning of the third decade. Quite importantly, there is no treatmentcurrently available for the disease.
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: scAAV9.U1A.SGSH
Product Code: ABO-102
INN or Proposed INN: scAAV9.U1A.SGSH
Other descriptive name: scAAV9.U1A.SGSH
Abeona Therapeutics IncNULLNot RecruitingFemale: yes
Male: yes
12Phase 1;Phase 2United States;Spain;Australia
179EUCTR2018-003291-12-BE
(EUCTR)
20/05/201918/04/2019Research study to determine the effects of an investigational drug, SHP611 on patients with with Late Infantile Metachromatic Leukodystrophy (MLD) specially the gross motor function, using the Gross Motor Function Classification in Metachromatic Leukodystrophy (GMFC-MLD) compared with matched historical control data in children with MLD.A Global, Multicenter, Open-label, Matched Historical Control Study of Intrathecal SHP611 in Subjects with Late Infantile Metachromatic Leukodystrophy Late Metachromatic Leukodystrophy (MLD)
MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Code: SHP611
Other descriptive name: RECOMBINANT HUMAN ARYLSULFATASE A
Shire Human Genetic Therapies, Inc.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
42Phase 2United States;France;Mexico;Canada;Spain;Brazil;Belgium;Israel;Netherlands;Germany;United Kingdom;Japan
180EUCTR2018-003291-12-ES
(EUCTR)
16/05/201912/04/2019Research study to determine the effects of an investigational drug, SHP611 on patients with with Late Infantile Metachromatic Leukodystrophy (MLD) specially the gross motor function, using the Gross Motor Function Classification in Metachromatic Leukodystrophy (GMFC-MLD) compared with matched historical control data in children with MLD.A Global, Multicenter, Open-label, Matched Historical Control Study of Intrathecal SHP611 in Subjects with Late Infantile Metachromatic Leukodystrophy - NA Late Metachromatic Leukodystrophy (MLD)
MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Code: SHP611
INN or Proposed INN: Not Available
Other descriptive name: RECOMBINANT HUMAN ARYLSULFATASE A
Shire Human Genetic Therapies, Inc.NULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
35 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noUnited States;Spain;Israel;United Kingdom;France;Mexico;Canada;Belgium;Brazil;Denmark;Germany;Netherlands;Japan
181NCT03949920
(ClinicalTrials.gov)
May 16, 201918/4/2019A Study of Migalastat in Fabry DiseaseA Prospective Observational Study Investigating the Impact of Migalastat on Cardiovascular Structure and Function in Fabry DiseaseFabry DiseaseDrug: MigalastatManchester University NHS Foundation TrustNorthern Care Alliance NHS Foundation TrustActive, not recruiting16 YearsN/AAll21United Kingdom
182EUCTR2016-000378-38-FR
(EUCTR)
13/05/201915/05/2019Safety and effectiveness study comparing PRX-102 and Agalsidase Beta on Kidney function for patients with Fabry Disease who have previously been treated with Agalsidase BetaA Randomized, Double blind, Active Control Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta Fabry disease (a-galactosidase A deficiency)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: Pegunigalsidase alpha
Trade Name: Fabrazyme
Product Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Other descriptive name: N/A
Trade Name: Fabrazyme
Product Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Other descriptive name: N/A
Protalix Ltd.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
78Phase 3United States;Slovenia;Paraguay;Finland;Spain;Turkey;Italy;Switzerland;United Kingdom;France;Hungary;Czech Republic;Canada;Argentina;Belgium;Brazil;Denmark;Australia;Norway;Netherlands;Germany
183EUCTR2017-000146-21-ES
(EUCTR)
09/05/201911/04/2019ASPIRE Pediatric Fabry StudyAN OPEN-LABEL STUDY OF THE SAFETY, PHARMACOKINETICS, PHARMACODYNAMICS, AND EFFICACY OF 12-MONTH TREATMENT WITH MIGALASTAT IN PEDIATRIC SUBJECTS (AGED 12 TO <18 YEARS) WITH FABRY DISEASE AND AMENABLE GLA VARIANTS Fabry disease and with amenable GLA variants
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Trade Name: Galafold
Product Name: Migalastat
Product Code: AT1001
INN or Proposed INN: migalastat
Other descriptive name: MIGALASTAT HYDROCHLORIDE
Amicus Therapeutics, UK LtdNULLNot RecruitingFemale: yes
Male: yes
20Phase 3United States;Spain;Australia;Germany;United Kingdom;Italy
184EUCTR2018-004406-25-DE
(EUCTR)
09/05/201923/01/2019A safety and efficacy study of N-Acetyl-L-Leucine on GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease).Effects of N-Acetyl-L-Leucine on GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease): A multinational, multicenter, open-label, rater-blinded Phase II study. GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease)
MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: N-Acetyl-L-Leucine
Product Code: IB1001
INN or Proposed INN: N-Acetyl-L-Leucine
Other descriptive name: 2(S)-(ACETYLAMINO)-4-METHYLPENTANOIC ACID
Product Name: N-Acetyl-L-Leucine
Product Code: IB1001
INN or Proposed INN: N-Acetyl-L-Leucine
Other descriptive name: 2(S)-(ACETYLAMINO)-4-METHYLPENTANOIC ACID
IntraBio LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
39Phase 2United States;Spain;Germany;United Kingdom
185EUCTR2018-004331-71-DE
(EUCTR)
08/05/201902/01/2019A safety and efficacy study of N-Acetyl-L-Leucine on Niemann-Pick type C Disease.Effects of N-Acetyl-L-Leucine on Niemann-Pick type C Disease (NPC): A multinational, multi-center, open-label, rater-blinded Phase II study Niemann-Pick Disease type C (NPC)
MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: N-Acetyl-L-Leucine
Product Code: IB1001
INN or Proposed INN: N-Acetyl-L-leucine
Other descriptive name: 2(S)-(ACETYLAMINO)-4-METHYLPENTANOIC ACID
Product Name: N-Acetyl-L-Leucine
Product Code: IB1001
INN or Proposed INN: N-Acetyl-L-leucine
Other descriptive name: 2(S)-(ACETYLAMINO)-4-METHYLPENTANOIC ACID
IntraBio LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
39Phase 2United States;Slovakia;Spain;Germany;United Kingdom
186JPRN-JMA-IIA00421
07/05/201926/04/2019Phase II/III Study to Evaluate the Efficacy and Safety of Chaperone Therapy with Ambroxol Hydrochloride (JT408T) in Patients with Neuronopathic Gaucher disease (Japan- Lysosomal Optimization Study: J-LO study)Phase II/III Study to Evaluate the Efficacy and Safety of Chaperone Therapy with Ambroxol Hydrochloride (JT408T) in Patients with Neuronopathic Gaucher disease (Japan- Lysosomal Optimization Study: J-LO study) Neuronopathic Gaucher diseaseIntervention type:DRUG. Intervention1:ADMINISTRATION, Dose form:TABLET, Route of administration:ORAL.Tottori University Hospital, Departrment of Child NeurologyNULLCompletedNo LimitNo LimitBOTH3Phase 2-3Japan
187NCT03771898
(ClinicalTrials.gov)
April 30, 201910/12/2018A Study of Intrathecal SHP611 in Children With Metachromatic LeukodystrophyA Global, Multicenter, Single-arm, Matched External Control Study of Intrathecal SHP611 in Subjects With Late Infantile Metachromatic LeukodystrophyMetachromatic Leukodystrophy (MLD)Drug: SHP611ShireTakeda Development Center Americas, Inc.Active, not recruiting6 Months72 MonthsAll36Phase 2United States;Argentina;Belgium;Brazil;Canada;France;Germany;Greece;Israel;Italy;Japan;Netherlands;Spain;United Kingdom;Denmark;Mexico
188JPRN-JapicCTI-194731
30/4/201924/04/2019An open-label phase 3 study of lucerastat in Japanese subjects with Fabry diseaseA multicenter, open-label study to determine the efficacy and safety of lucerastat oral therapy in Japanese subjects with Fabry disease Fabry diseaseIntervention name : ACT-434964
INN of the intervention : Lucerastat
Dosage And administration of the intervention : 1000mg twice a day, oral administration
Control intervention name : -
INN of the control intervention : -
Dosage And administration of the control intervention : -
Idorsia Pharmaceuticals Japan LtdNULLcomplete16BOTH20Phase 3Japan
189EUCTR2018-001947-30-BE
(EUCTR)
29/04/201901/04/2019Safety and Efficacy study assessing Pegunigalsidase Alfa (PRX-102) Administered by Intravenous Infusion Every 4 Weeks in Patients With Fabry DiseaseOpen Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102) 2 mg/kg Administered by Intravenous Infusion Every 4 Weeks in Patients with Fabry Disease
MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: PEGUNIGALSIDASE ALFA
Protalix Ltd.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
40Phase 3United States;Czechia;Belgium;Denmark;Norway;United Kingdom;Italy
190EUCTR2018-002210-12-NL
(EUCTR)
12/04/201919/11/2018A study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry diseaseA multi-center, open-label, uncontrolled, single-arm, extension study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry disease Fabry disease
MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Lucerastat
Product Code: ACT-434964
INN or Proposed INN: Lucerastat
Other descriptive name: OGT923
Idorsia Pharmaceuticals LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
108Phase 3United States;Spain;Ireland;Austria;Italy;United Kingdom;France;Canada;Belgium;Poland;Australia;Netherlands;Germany;Norway
191EUCTR2018-003291-12-FR
(EUCTR)
11/04/201920/02/2019Research study to determine the effects of an investigational drug, SHP611 on patients with with Late Infantile Metachromatic Leukodystrophy (MLD) specially the gross motor function, using the Gross Motor Function Classification in Metachromatic Leukodystrophy (GMFC-MLD) compared with matched historical control data in children with MLD.A Global, Multicenter, Open-label, Matched Historical Control Study of Intrathecal SHP611 in Subjects with Late Infantile Metachromatic Leukodystrophy Late Metachromatic Leukodystrophy (MLD)
MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Code: SHP611
Other descriptive name: RECOMBINANT HUMAN ARYLSULFATASE A
Shire Human Genetic Therapies, Inc.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
35Phase 2United States;Spain;Israel;United Kingdom;France;Mexico;Canada;Belgium;Brazil;Denmark;Germany;Netherlands;Japan
192NCT03775174
(ClinicalTrials.gov)
April 5, 201911/12/2018Expanded Access to MepseviiMPS VII;Mucopolysaccharidosis VII;Sly SyndromeDrug: MepseviiUltragenyx Pharmaceutical IncNULLAvailableN/AN/AAllNULL
193NCT03580083
(ClinicalTrials.gov)
April 3, 201918/6/2018RGX-111 Gene Therapy in Patients With MPS IA Phase I/II Multicenter, Open-Label Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of Intracisternal RGX-111 in Subjects With Mucopolysaccharidosis Type IMucopolysaccharidosis Type I (MPS I);Hurler Syndrome;Hurler-Scheie SyndromeGenetic: RGX-111REGENXBIO Inc.NULLActive, not recruiting4 MonthsN/AAll8Phase 1/Phase 2United States;Brazil;Israel
194EUCTR2018-000195-15-NL
(EUCTR)
25/03/201927/09/2018An Open-Label study with only one arm of treatment that will be carried out in different international sites of Intracerebral Administration of study drug for the Treatment of Sanfilippo syndrome type AAn Open-Label, Single-Arm, Multicenter Study of Intracerebral Administration of Adeno-Associated Viral Vectors Serotype rh10 Carrying the Human N-sulfoglucosamine sulfohydrolase (SGSH) cDNA for the Treatment of Mucopolysaccharidosis Type IIIA Mucopolysaccharidosis Type IIIA
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: LYS-SAF302
Product Code: LYS-SAF302
INN or Proposed INN: olenasufligene relduparvovec
Other descriptive name: LYS-SAF302
Lysogene SANULLNot RecruitingFemale: yes
Male: yes
20Phase 2;Phase 3United States;France;Germany;Netherlands;United Kingdom
195EUCTR2018-002210-12-GB
(EUCTR)
18/03/201923/10/2018A study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry diseaseA multi-center, open-label, uncontrolled, single-arm, extension study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry disease Fabry disease
MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Lucerastat
Product Code: ACT-434964
INN or Proposed INN: Lucerastat
Other descriptive name: OGT923
Idorsia Pharmaceuticals LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
108Phase 3United States;Canada;Poland;Belgium;Ireland;Austria;Australia;Netherlands;Germany;United Kingdom
196EUCTR2016-000378-38-FI
(EUCTR)
12/03/201906/02/2019Safety and effectiveness study comparing PRX-102 and Agalsidase Beta on Kidney function for patients with Fabry Disease who have previously been treated with Agalsidase BetaA Randomized, Double blind, Active Control Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta Fabry disease (a-galactosidase A deficiency)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: Pegunigalsidase alpha
Trade Name: Fabrazyme
Product Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Other descriptive name: N/A
Trade Name: Fabrazyme
Product Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Other descriptive name: N/A
Protalix Ltd.NULLNot RecruitingFemale: yes
Male: yes
78Phase 3United States;Czechia;Slovenia;Finland;Spain;Turkey;United Kingdom;Switzerland;Italy;France;Hungary;Canada;Argentina;Brazil;Belgium;Australia;Denmark;Norway;Germany;Netherlands;Sweden
197EUCTR2016-000301-37-NL
(EUCTR)
06/03/201928/06/2018Safety and Efficacy of Eliglustat with or without Imiglucerase in Pediatric Patients with Gaucher Disease (GD) Type 1 and Type 3Open label, Two Cohort (with and without Imiglucerase), Multicenter Study to Evaluate Pharmacokinetics, Safety, and Efficacy of Eliglustat in Pediatric Patients with Gaucher Disease Type 1 and Type 3 - ELIKIDS Congenital, hereditary and neonatal diseases
MedDRA version: 20.0;Level: PT;Classification code 10075697;Term: Gaucher's disease type I;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.0;Classification code 10075699;Term: Gaucher's disease type III;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Trade Name: Cerdelga
Product Name: Eliglustat
Product Code: GZ385660
INN or Proposed INN: Eliglustat
Other descriptive name: ELIGLUSTAT TARTRATE
Trade Name: Cerezyme
Product Name: Imiglucerase
INN or Proposed INN: IMIGLUCERASE
Other descriptive name: Cerezyme
Product Name: Eliglustat
Product Code: GZ385660
INN or Proposed INN: Eliglustat
Other descriptive name: ELIGLUSTAT TARTRATE
Product Name: Eliglustat
Product Code: GZ385660
INN or Proposed INN: Eliglustat
Other descriptive name: ELIGLUSTAT TARTRATE
Genzyme CorporationNULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
120 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): noFrance;Egypt;Canada;Argentina;Spain;Turkey;Russian Federation;Netherlands;Italy;United Kingdom;Sweden
198NCT03950050
(ClinicalTrials.gov)
March 1, 20196/8/2018Ambroxol Therapy for Patients With Type 1 Gaucher Disease and Suboptimal Response to Enzyme Replacement TherapyAmbroxol Therapy for Patients With Type 1 Gaucher Disease and Suboptimal Response to Enzyme Replacement TherapyGaucher Disease, Type 1Drug: AmbroxolShaare Zedek Medical CenterNULLCompleted18 Years75 YearsAll40Phase 2Israel
199EUCTR2018-002210-12-AT
(EUCTR)
19/02/201905/11/2018A study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry diseaseA multi-center, open-label, uncontrolled, single-arm, extension study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry disease Fabry disease
MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Lucerastat
Product Code: ACT-434964
INN or Proposed INN: Lucerastat
Other descriptive name: OGT923
Idorsia Pharmaceuticals LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
108Phase 3United States;Spain;Ireland;Austria;Italy;United Kingdom;France;Canada;Belgium;Poland;Australia;Germany;Netherlands;Norway
200EUCTR2018-002210-12-DE
(EUCTR)
13/02/201926/10/2018A study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry diseaseA multi-center, open-label, uncontrolled, single-arm, extension study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry disease Fabry disease
MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Lucerastat
Product Code: ACT-434964
INN or Proposed INN: Lucerastat
Other descriptive name: OGT923
Idorsia Pharmaceuticals LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
108Phase 3United States;Spain;Ireland;Austria;Italy;United Kingdom;France;Canada;Belgium;Poland;Australia;Germany;Netherlands;Norway
201EUCTR2018-001148-67-ES
(EUCTR)
08/02/201916/11/2018Safety and Efficacy study assessing Pegunigalsidase Alfa (PRX-102) in Patients With Fabry DiseaseOpen Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102) in Patients With Fabry Disease Fabry disease (a-galactosidase A deficiency)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: PEGUNIGALSIDASE ALFA
Protalix Ltd.NULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
110 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): noUnited States;Slovenia;Spain;Turkey;Italy;Switzerland;United Kingdom;Hungary;Czech Republic;Canada;Argentina;Belgium;Brazil;Australia;Denmark;Norway;Netherlands;Germany
202NCT03811028
(ClinicalTrials.gov)
January 19, 201917/12/2018A Study to Assess the Safety, Tolerability, and Efficacy of Long-term SOBI003 Treatment in Pediatric MPS IIIA PatientsAn Open, Single-arm, Multicenter Extension Study to Assess the Safety, Tolerability, and Efficacy of Long-term SOBI003 Treatment in Pediatric MPS IIIA PatientsSanfilippo Syndrome Type A (MPS IIIA)Drug: SOBI003Swedish Orphan BiovitrumNULLCompleted18 Months78 MonthsAll6Phase 1/Phase 2United States;Turkey
203JPRN-JMA-IIA00416
17/01/201911/03/2019A phase 2 open label study to assess the efficacy and safety of beta-glucuronidase enzyme replacement therapy in Japanese patients with mucopolysaccharidosis type VII, Sly diseaseA phase 2 open label study to assess the efficacy and safety of beta-glucuronidase enzyme replacement therapy in Japanese patients with mucopolysaccharidosis type VII, Sly disease Mucopolysaccharidosis type7Intervention type:DRUG. Intervention1:ADMINISTRATION, Dose form:INJECTION, Route of administration:INTRAVENOUS DRIP, intended dose regimen:UX003 will be intravenously administered at dose of 4 mg/kg every other week. UX003 will be sterilely diluted in saline and transferred to infusion bag. Administration of undiluted UX003 is prohibited. The rate of infusion will be determined to administer 2.5% of diluted UX003 for the first one hour and rest of the drug for 3 hours.. Control intervention1:NOT APPLICABLE.Osaka City University HospitalTakashi HamazakiNOT APPLICABLECompleted>=4 YEARS<=40 YEARSBOTH3Phase 2Japan
204EUCTR2017-002158-35-PT
(EUCTR)
14/01/201923/07/2018Study to investigate the fate of odiparcil since its administration up to the point is completely eliminated, its safety and efficacy in patients 16 years and above with mucopolysaccharidosis (MPS) type VIA phase IIa study to investigate safety, pharmacokinetics, and efficacy of odiparcil in patients 16 years and above with mucopolysaccharidosis (MPS) type VI. Mucopolysaccharidosis (MPS) type VI.
MedDRA version: 20.1;Level: PT;Classification code 10056892;Term: Mucopolysaccharidosis VI;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Odiparcil
Product Code: IVA 336
INN or Proposed INN: Odiparcil
Inventiva S.A.NULLNot RecruitingFemale: yes
Male: yes
20Phase 2France;Portugal;Germany;United Kingdom
205NCT03822013
(ClinicalTrials.gov)
January 14, 201922/1/2019Effects of Miglustat Therapy on Infantile Type of Sandhoff and Taysachs Diseases (EMTISTD)Survey of Miglustat Therapeutic Effects on Neurological and Systemic Symptoms of Infantile Type of Sandhoff and Taysachs DiseasesGM2 Gangliosidosis;Supportive CareDrug: MiglustatTehran University of Medical SciencesMashhad University of Medical Sciences;Kashan University of Medical SciencesRecruiting6 Months24 MonthsAll30Phase 3Iran, Islamic Republic of
206EUCTR2014-001411-39-GB
(EUCTR)
10/01/201924/05/2019Gene transfer clinical trial for Mucopolysaccharidosis IIIBPhase I/II gene transfer clinical trial of rAAV9.CMV.hNAGLU for Mucopolysaccharidosis (MPS) IIIB MPS IIIB is a devastating lysosomal storage disease, caused by a N-a-acetylglucosaminidase (NAGLU) gene defect. Infants with MPS IIIB appear normal at birth, but the disease is relentlessly progressive, with deterioration of social and adaptive abilities, neurocognitive decline, and premature death. Death typically occurs by end of the second or beginning of the third decade. Quite importantly, there is no treatment currently available for the disease.
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: rAAV9.CMV.hNAGLU
Product Code: ABO-101
INN or Proposed INN: rAAV9.CMV.hNAGLU
Other descriptive name: rAAV9.CMV.hNAGLU
Abeona Therapeutics Europe SL.NULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
9 Human pharmacology (Phase 1): yes Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noFrance;United States;Spain;Netherlands;Germany;Italy;United Kingdom
207EUCTR2016-000301-37-GB
(EUCTR)
09/01/201917/06/2019Safety and Efficacy of Eliglustat with or without Imiglucerase in Pediatric Patients with Gaucher Disease (GD) Type 1 and Type 3Open label, Two Cohort (with and without Imiglucerase), Multicenter Study to Evaluate Pharmacokinetics, Safety, and Efficacy of Eliglustat in Pediatric Patients with Gaucher Disease Type 1 and Type 3 - ELIKIDS Congenital, hereditary and neonatal diseases
MedDRA version: 20.0;Level: PT;Classification code 10075697;Term: Gaucher's disease type I;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.0;Classification code 10075699;Term: Gaucher's disease type III;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Trade Name: Cerdelga
Product Name: Eliglustat
Product Code: GZ385660
INN or Proposed INN: Eliglustat
Other descriptive name: ELIGLUSTAT TARTRATE
Trade Name: Cerezyme
Product Name: Imiglucerase
INN or Proposed INN: IMIGLUCERASE
Other descriptive name: Cerezyme
Product Name: Eliglustat
Product Code: GZ385660
INN or Proposed INN: Eliglustat
Other descriptive name: ELIGLUSTAT TARTRATE
Product Name: Eliglustat
Product Code: GZ385660
INN or Proposed INN: Eliglustat
Other descriptive name: ELIGLUSTAT TARTRATE
Genzyme CorporationNULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
120 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): noFrance;Egypt;Canada;Argentina;Spain;Turkey;Russian Federation;Netherlands;Italy;United Kingdom;Sweden
208NCT03708965
(ClinicalTrials.gov)
January 1, 201927/9/2018An Extension Study of JR-141-BR21 in Patients With Mucopolysaccharidosis IIAn Extension Study of JR-141-BR21 in Patients With Mucopolysaccharidosis IIMucopolysaccharidosis IIDrug: JR-141JCR Pharmaceuticals Co., Ltd.NULLActive, not recruiting0 YearsN/AMale19Phase 2Brazil
209EUCTR2018-000195-15-FR
(EUCTR)
27/12/201804/09/2018An Open-Label study with only one arm of treatment that will be carried out in different international sites of Intracerebral Administration of study drug for the Treatment of Sanfilippo syndrome type AAn Open-Label, Single-Arm, Multicenter Study of Intracerebral Administration of Adeno-Associated Viral Vectors Serotype rh10 Carrying the Human N-sulfoglucosamine sulfohydrolase (SGSH) cDNA for the Treatment of Mucopolysaccharidosis Type IIIA Mucopolysaccharidosis Type IIIA
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: LYS-SAF302
Product Code: LYS-SAF302
INN or Proposed INN: olenasufligene relduparvovec
Other descriptive name: LYS-SAF302
Lysogene SANULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
20 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): noUnited States;France;Netherlands;Germany;United Kingdom
210NCT03737214
(ClinicalTrials.gov)
December 18, 20186/11/2018A Study to Evaluate the Long-term Safety and Tolerability of Lucerastat in Adult Subjects With Fabry DiseaseA Multi-center, Open-label, Uncontrolled, Single-arm, Extension Study to Determine the Long-term Safety and Tolerability of Oral Lucerastat in Adult Subjects With Fabry DiseaseFabry DiseaseDrug: LucerastatIdorsia Pharmaceuticals Ltd.NULLActive, not recruiting18 YearsN/AAll107Phase 3United States;Australia;Austria;Belgium;Canada;France;Germany;Norway;Poland;Spain;United Kingdom;Czechia;Ireland;Italy;Netherlands;Switzerland
211EUCTR2017-002158-35-DE
(EUCTR)
03/12/201816/08/2017Study to investigate the fate of odiparcil since its administration up to the point is completely eliminated, its safety and efficacy in patients 16 years and above with mucopolysaccharidosis (MPS) type VIA phase IIa study to investigate safety, Pharmacokinetics, and efficacy of odiparcil in patients 16 years and above with mucopolysaccharidosis (MPS) type VI. Mucopolysaccharidosis (MPS) type VI.
MedDRA version: 20.1;Level: PT;Classification code 10056892;Term: Mucopolysaccharidosis VI;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Odiparcil
Product Code: IVA 336
INN or Proposed INN: Odiparcil
Inventiva S.A.NULLNot RecruitingFemale: yes
Male: yes
20Phase 2Portugal;France;Germany;United Kingdom
212EUCTR2013-000051-40-DE
(EUCTR)
14/11/201801/10/2018A Long-Term Study of Recombinant Human Acid Sphingomyelinase in Patients With Acid Sphingomyelinase DeficiencyA Long-Term Study to Assess the Ongoing Safety and Efficacy of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Patients with acid sphingomyelinase deficiency (Niemann-Pick Type B disease)
MedDRA version: 20.1;Level: LLT;Classification code 10041515;Term: Sphingomyelin lipidosis;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Olipudase alfa (rhASM)
Product Code: GZ402665
INN or Proposed INN: Olipudase alfa
Other descriptive name: RECOMBINANT HUMAN ACID SPHINGOMYELINASE (rhASM)
Genzyme CorporationNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
25Phase 2France;United States;Belgium;Brazil;Germany;United Kingdom;Italy
213NCT03632213
(ClinicalTrials.gov)
November 7, 20183/8/2018Evaluation of Losartan on Cardiovascular Disease in Patients With Mucopolysaccharidoses IV A and VIA Randomized Clinical Trial to Evaluate the Effects of Losartan on Cardiovascular Disease in Patients With Mucopolysaccharidoses IV A and VIMucopolysaccharidosis IV A;Mucopolysaccharidosis VI;Mucopolysaccharidoses;MPS IV A;MPS VI;MPS - Mucopolysaccharidosis;Morquio A Syndrome;Morquio Syndrome A;Morquio SyndromeDrug: Losartan;Drug: PlaceboHospital de Clinicas de Porto AlegreThe Isaac FoundationActive, not recruiting10 Years40 YearsAll10Phase 2Brazil
214NCT03614234
(ClinicalTrials.gov)
November 6, 201830/7/2018Open Label Extension of 2 mg/kg Pegunigalsidase Alfa (PRX-102) Every 4 Weeks in Adult Fabry Disease PatientsOpen Label Extension Study to Evaluate the Long-term Safety and Efficacy of 2 mg/kg Pegunigalsidase Alfa (PRX-102) Administered by Intravenous Infusion Every 4 Weeks in Adult Patients With Fabry DiseaseFabry DiseaseBiological: pegunigalsidase alfaProtalixNULLEnrolling by invitation18 YearsN/AAll40Phase 3United States;Belgium;Czechia;Denmark;Italy;Norway;United Kingdom
215NCT03725670
(ClinicalTrials.gov)
October 30, 201825/9/2018Lentiviral Gene Therapy for MLDGene Therapy for Metachromatic Leukodystrophy (MLD) Using a Self-inactivating Lentiviral Vector (TYF-ARSA)Metachromatic Leukodystrophy (MLD)Biological: Lentivirus-mediated delivery of ARSA to the CNS.Shenzhen Geno-Immune Medical InstituteNULLRecruiting1 MonthN/AAll10N/AChina
216EUCTR2016-002328-10-NL
(EUCTR)
29/10/201807/11/2018Gene Therapy in patients with Mucopolysaccharidosis diseaseA Phase I/II Open Label, Dose Escalation, Safety Study in Subjects withMucopolysaccharidosis type VI (MPS VI) Using Adeno-Associated ViralVector 8 to Deliver the human ARSB gene to Liver. The clinical trial will be conducted on patients withMucopolysaccharidosis Type VI. MPS VI is characterized by growthretardation, corneal clouding, cardiac valve disease, organomegaly, skeletal dysplasia, without central nervous system involvement;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]Product Name: AAV2/8.TBG.hARSB
Product Code: not applicable
INN or Proposed INN: NA
Other descriptive name: ADENO-ASSOCIATED VIRAL (AAV) SEROTYPE 8 (AAV2/8) VECTOR WITH LIVER-SPECIFIC THYROXINE-BINDING GLOBULIN (TBG) PROMOTER, DRIVING THE EXPRESSION OF THE HUMAN ARSB GENE
FONDAZIONE TELETHONNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
10Phase 1Turkey;Netherlands;Italy
217EUCTR2018-000368-27-IT
(EUCTR)
22/10/201804/11/2020NDND - ND Fabry disease
MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Digestive System Diseases [C06]
Trade Name: FABRAZYME - 35 MG POLVERE PER CONCENTRATO PER SOLUZIONE PER INFUSIONE ENDOVENOSA 1 FLACONCINO
Product Name: fabrazyme
Product Code: [A16AB04]
INN or Proposed INN: AGALSIDASI BETA
FONDAZIONE POLICLINICO UNIVERSITARIO AGOSTINO GEMELLI IRCCS UNIVERSITA' CATTOLICA DEL SACRO CUORENULLNot RecruitingFemale: yes
Male: yes
14Phase 4Italy
218NCT03500094
(ClinicalTrials.gov)
October 11, 20189/4/2018Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged 12 to <18 Years)An Open-label Study of the Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of 12 Month Treatment With Migalastat in Pediatric Subjects (Aged 12 to <18 Years) With Fabry Disease and Amenable GLA VariantsFabry DiseaseDrug: migalastat HCl 150 mgAmicus TherapeuticsNULLCompleted12 Years17 YearsAll22Phase 3United States;Spain;United Kingdom
219EUCTR2016-000301-37-SE
(EUCTR)
09/10/201805/06/2018Safety and Efficacy of Eliglustat with or without Imiglucerase in Pediatric Patients with Gaucher Disease (GD) Type 1 and Type 3Open label, Two Cohort (with and without Imiglucerase), Multicenter Study to Evaluate Pharmacokinetics, Safety, and Efficacy of Eliglustat in Pediatric Patients with Gaucher Disease Type 1 and Type 3 - ELIKIDS Congenital, hereditary and neonatal diseases
MedDRA version: 20.0;Level: PT;Classification code 10075697;Term: Gaucher's disease type I;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.0;Classification code 10075699;Term: Gaucher's disease type III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Trade Name: Cerdelga
Product Name: Eliglustat
Product Code: GZ385660
INN or Proposed INN: Eliglustat
Other descriptive name: ELIGLUSTAT TARTRATE
Trade Name: Cerezyme
Product Name: Imiglucerase
INN or Proposed INN: IMIGLUCERASE
Other descriptive name: Cerezyme
Product Name: Eliglustat
Product Code: GZ385660
INN or Proposed INN: Eliglustat
Other descriptive name: ELIGLUSTAT TARTRATE
Product Name: Eliglustat
Product Code: GZ385660
INN or Proposed INN: Eliglustat
Other descriptive name: ELIGLUSTAT TARTRATE
Product Name: Eliglustat
Product Code: GZ385660
Other descriptive name: Eliglustat Tartrate – Powder for Oral Suspension
Genzyme CorporationNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
120Phase 3Taiwan;Spain;Turkey;Russian Federation;Italy;United Kingdom;Egypt;France;Canada;Argentina;Netherlands;Japan;Sweden
220NCT03566043
(ClinicalTrials.gov)
September 27, 20181/5/2018CAMPSIITE™ RGX-121 Gene Therapy in Subjects With MPS II (Hunter Syndrome)A Phase 1/2/3 Multicenter, Open-Label Study to Evaluate the Efficacy, Safety, Tolerability, and Pharmacodynamics of RGX-121 in Pediatric Subjects With MPS II (Hunter Syndrome)Mucopolysaccharidosis Type II (MPS II)Genetic: RGX-121REGENXBIO Inc.NULLRecruiting4 Months5 YearsMale48Phase 2/Phase 3United States;Brazil
221EUCTR2018-001148-67-GB
(EUCTR)
26/09/201816/05/2018Safety and Efficacy study assessing Pegunigalsidase Alfa (PRX-102) in Patients With Fabry DiseaseOpen Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102)in Patients With Fabry Disease
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: PEGUNIGALSIDASE ALFA
Protalix Ltd.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
110Phase 3United States;Slovenia;Spain;Turkey;Italy;United Kingdom;Switzerland;Hungary;Czech Republic;Canada;Argentina;Belgium;Brazil;Australia;Denmark;Norway;Netherlands;Germany
222NCT03566017
(ClinicalTrials.gov)
September 20, 201824/5/2018Extension Study of 1 mg/kg Pegunigalsidase Alfa in Patients With Fabry DiseaseOpen Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102) in Patients With Fabry DiseaseFabry DiseaseBiological: pegunigalsidase alfaProtalixNULLEnrolling by invitation18 Years60 YearsAll110Phase 3United States;Australia;Canada;Czechia;Finland;France;Hungary;Italy;Netherlands;Norway;Slovenia;Spain;United Kingdom
223EUCTR2014-001411-39-ES
(EUCTR)
04/09/201827/06/2018Gene transfer clinical trial for Mucopolysaccharidosis IIIBPhase I/II gene transfer clinical trial of rAAV9.CMV.hNAGLU for Mucopolysaccharidosis (MPS) IIIB MPS IIIB is a devastating lysosomal storage disease, caused by a N-a-acetylglucosaminidase (NAGLU) gene defect. Infants with MPS IIIB appear normal at birth, but the disease is relentlessly progressive, with deterioration of social and adaptive abilities, neurocognitive decline, and premature death. Death typically occurs by end of the second or beginning of the third decade. Quite importantly, there is no treatment currently available for the disease.;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]Product Name: rAAV9.CMV.hNAGLU
Product Code: rAAV9.CMV.hNAGLU
INN or Proposed INN: rAAV9.CMV.hNAGLU
Other descriptive name: rAAV9.CMV.hNAGLU
Abeona Therapeutics IncNULLNot RecruitingFemale: yes
Male: yes
9Phase 1;Phase 2United States;France;Spain;Netherlands;Germany;United Kingdom;Italy
224NCT03702361
(ClinicalTrials.gov)
September 4, 20186/8/2018Rapid Intravenous Infusion of Velaglucerase Alfa (VPRIV) in Treatment-naive Patients With Type 1 Gaucher DiseaseRapid Intravenous Infusion of Velaglucerase Alfa (VPRIV) in Treatment-naive Patients With Type 1 Gaucher Disease: An Investigator-initiated StudyPrimary DiseaseDrug: VPRIVShaare Zedek Medical CenterNULLCompleted6 Years75 YearsAll15Phase 4Israel
225EUCTR2018-000192-33-GB
(EUCTR)
17/08/201809/04/2018A phase 1/2 study to evaluate the safety and tolerability of SB-913, a rAAV2/6-based gene therapy in patients with Mucopolysaccharidosis II (MPS II)A Phase 1/2, Multicenter, Open-label, Single-dose, Dose-ranging Study to Assess the Safety and Tolerability of SB-913, a rAAV2/6-based Gene Transfer in Subjects with Mucopolysaccharidosis II (MPS II) Mucopolysaccharidosis type II (MPS II)
MedDRA version: 20.1;Level: PT;Classification code 10056889;Term: Mucopolysaccharidosis II;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: rAAV2/6 Left ZFN Vector
Product Code: SB-47171
INN or Proposed INN: Not yet assigned
Other descriptive name: Adeno-associated virus serotype 2/6 encoding Left side-zinc finger nuclease (ZFN1), SB-A6P-ZLEFT Vector
Product Name: rAAV2/6 Right ZFN Vector
Product Code: SB-47898
INN or Proposed INN: Not yet assigned
Other descriptive name: Adeno-associated virus serotype 2/6 encoding Right side-zinc finger nuclease (ZFN2), SB-A6P-ZRIGHT Vector
Product Name: rAAV 2/6 hIDS DONOR
Product Code: hIDS DONOR
INN or Proposed INN: Not yet assigned
Other descriptive name: Adeno-associated virus serotype 2/6 encoding Human Iduronate 2-sulfatase (hIDS) gene donor vector, SB-A6P-HNT Donor Vector
Sangamo Therapeutics, Inc.NULLAuthorised-recruitment may be ongoing or finished Female: no
Male: yes
32 Human pharmacology (Phase 1): yes Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noUnited States;United Kingdom
226EUCTR2018-000206-28-GB
(EUCTR)
14/08/201827/03/2018A phase 1/2 study to evaluate the safety and tolerability of SB-318, a rAAV2/6-based Gene Therapy, in patients with Mucopolysaccharidosis I (MPS I)A Phase 1/2, Multicenter, Open-Label, Single-Dose, Dose-Ranging Study to Assess the Safety and Tolerability of SB-318, a rAAV2/6-based Gene Transfer in Subjects with Mucopolysaccharidosis I (MPS I) Mucopolysaccharidosis type I (MPS I)
MedDRA version: 20.1;Level: PT;Classification code 10056886;Term: Mucopolysaccharidosis I;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: rAAV2/6 Left ZFN Vector
Product Code: SB-47171
INN or Proposed INN: Not yet assigned
Other descriptive name: Adeno-associated virus serotype 2/6 encoding Left side-zinc finger nuclease (ZFN1), SB-A6P-ZLEFT Vector
Product Name: rAAV2/6 Right ZFN Vector
Product Code: SB-47898
INN or Proposed INN: Not yet assigned
Other descriptive name: Adeno-associated virus serotype 2/6 encoding Right side-zinc finger nuclease (ZFN2), SB-A6P-ZRIGHT Vector
Product Name: SB-A6P-HRL Donor Vector
Product Code: SB-IDUA
INN or Proposed INN: Not yet assigned
Other descriptive name: Adeno-associated virus serotype 2/6 encoding human iduronidase (hIDUA) gene donor vector, SB-A6P-HRL Donor Vector
Sangamo Therapeutics, Inc.NULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
27 Human pharmacology (Phase 1): yes Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noUnited States;United Kingdom
227EUCTR2018-001148-67-CZ
(EUCTR)
02/08/201802/08/2018Safety and Efficacy study assessing Pegunigalsidase Alfa (PRX-102) in Patients With Fabry DiseaseOpen Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102) in Patients With Fabry Disease
MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: PEGUNIGALSIDASE ALFA
Other descriptive name: CHF6657
Chiesi Farmaceutici S.p.ANULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
110Phase 3United States;Czechia;Slovenia;Finland;Spain;United Kingdom;Italy;France;Czech Republic;Hungary;Canada;Australia;Netherlands;Norway
228NCT03568175
(ClinicalTrials.gov)
August 1, 20181/6/2018A Study of JR-141 in Patients With Mucopolysaccharidosis IIA Phase II/III Study of JR-141 in Patients With Mucopolysaccharidosis IIMucopolysaccharidosis IIDrug: JR-141JCR Pharmaceuticals Co., Ltd.NULLCompletedN/AN/AMale28Phase 2/Phase 3Japan
229NCT03359213
(ClinicalTrials.gov)
July 26, 201817/11/2017A Study of JR-141 in Patients With Mucopolysaccharidosis IIPhase II Study of JR-141 in Patients With Mucopolysaccharidosis IIMucopolysaccharidosis IIDrug: JR-141JCR Pharmaceuticals Co., Ltd.NULLCompleted0 YearsN/AMale18Phase 2Brazil
230EUCTR2017-003369-85-NL
(EUCTR)
24/07/201816/05/2018A research study to study the effects of a new oral drug called lucerastat in adults with Fabry diseaseA multicenter, double-blind, randomized, placebo-controlled, parallel-group study to determine the efficacy and safety of lucerastat oral monotherapy in adult subjects with Fabry disease. - MODIFY Fabry disease
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Lucerastat
Product Code: ACT-434964
INN or Proposed INN: Lucerastat
Other descriptive name: OGT923
Idorsia Pharmaceuticals LtdNULLNot RecruitingFemale: yes
Male: yes
99Phase 3United States;Spain;Ireland;Austria;Italy;Switzerland;United Kingdom;Canada;Belgium;Poland;Australia;Netherlands;Germany;Norway
231EUCTR2015-001578-17-IT
(EUCTR)
18/07/201804/11/2020An Open-Label, Phase IV Study of Velaglucerase alfa on Bone Related Pathology in Adult, Treatment-Naïve Patients with Type 1 Gaucher DiseaseAn Open-label, Multicenter, Single-arm, Phase 4 Study of the Effect ofTreatment with Velaglucerase alfa on Bone-related Pathology inTreatment-naïve Patients with Type 1 Gaucher Disease - SHP-GCB-402 Gaucher Disease
MedDRA version: 20.0;Level: PT;Classification code 10075697;Term: Gaucher's disease type I;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Trade Name: VPRIV - 400 U - POLVERE PER SOLUZIONE PER INFUSIONE - USO ENDOVENOSO - FLACONCINO(VETRO) 1 FLACONCINO
Product Name: Velaglucerase alfa
Product Code: [-]
INN or Proposed INN: velaglucerasi alfa
Other descriptive name: GLUCOCEREBROSIDASE UMANO GENE-ATTIVATO
SHIRE HUMAN GENETIC THERAPIES, INCNULLNot RecruitingFemale: yes
Male: yes
40Phase 4United States;Spain;Israel;Germany;United Kingdom;Italy
232EUCTR2017-001528-23-IT
(EUCTR)
17/07/201810/11/2020Phase 3 Study of the Safety, Efficacy & PK of pegunigalsidase alfa (PRX-102) 2 mg/kg IV Administered Every 4 Weeks in Fabry Disease Patients (BRIGHT)A Phase 3, Open Label, Switch Over Study to Assess the Safety, Efficacy and Pharmacokinetics of pegunigalsidase alfa (PRX-102) 2 mg/kg Administered by Intravenous Infusion Every 4 Weeks for 52 weeks in Patients with Fabry Disease Currently Treated with Enzyme Replacement Therapy; Fabrazyme¿ (agalsidase beta) or Replagal¿ (agalsidase alfa) - Phase 3 Study of the Safety, Efficacy & PK of pegunigalsidase alfa (PRX-102) 2 mg/kg IV Administered Fabry disease (a-galactosidase A deficiency)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: Pegunigalsidase alfa
PROTALIX LTDNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
30Phase 3United States;Czechia;Taiwan;Spain;Turkey;Austria;Italy;United Kingdom;Czech Republic;Canada;Belgium;Denmark;Germany;Netherlands;Norway
233EUCTR2017-001528-23-DK
(EUCTR)
04/07/201810/04/2018Phase 3 Study of the Safety, Efficacy & PK of pegunigalsidase alfa (PRX-102) 2 mg/kg IV Administered Every 4 Weeks in Fabry Disease Patients (BRIGHT)A Phase 3, Open Label, Switch Over Study to Assess the Safety, Efficacy and Pharmacokinetics of pegunigalsidase alfa (PRX-102) 2 mg/kg Administered by Intravenous Infusion Every 4 Weeks for 52 weeks in Patients with Fabry Disease Currently Treated with Enzyme Replacement Therapy; Fabrazyme® (agalsidase beta) or Replagal™ (agalsidase alfa) Fabry disease (a-galactosidase A deficiency)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: Pegunigalsidase alfa
Protalix Ltd.NULLNot RecruitingFemale: yes
Male: yes
30Phase 3United States;Taiwan;Spain;Turkey;Austria;United Kingdom;Czech Republic;Canada;Belgium;Denmark;Germany;Netherlands;Norway
234EUCTR2016-000301-37-IT
(EUCTR)
02/07/201820/06/2018Safety and Efficacy of Eliglustat with or without Imiglucerase in Pediatric Patients with Gaucher Disease (GD) Type 1 and Type 3Open label, Two Cohort (with and without Imiglucerase), Multicenter Study to Evaluate Pharmacokinetics, Safety, and Efficacy of Eliglustat in Pediatric Patients with Gaucher Disease Type 1 and Type 3 - ELIKIDS Congenital, hereditary and neonatal diseases
MedDRA version: 20.0;Level: PT;Classification code 10075697;Term: Gaucher's disease type I;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.0;Classification code 10075699;Term: Gaucher's disease type III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Trade Name: Cerdelga
Product Name: Eliglustat
Product Code: GZ385660
INN or Proposed INN: Eliglustat
Other descriptive name: ELIGLUSTAT TARTRATE
Trade Name: Cerezyme
Product Name: Imiglucerase
INN or Proposed INN: IMIGLUCERASE
Other descriptive name: Cerezyme
Product Name: Eliglustat
Product Code: GZ385660
INN or Proposed INN: Eliglustat
Other descriptive name: ELIGLUSTAT TARTRATE
Product Name: Eliglustat
Product Code: GZ385660
INN or Proposed INN: Eliglustat
Other descriptive name: ELIGLUSTAT TARTRATE
Genzyme CorporationNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
120Phase 3France;Egypt;Canada;Argentina;Spain;Turkey;Russian Federation;Netherlands;United Kingdom;Italy;Sweden
235EUCTR2017-003369-85-AT
(EUCTR)
29/06/201827/04/2018A research study to study the effects of a new oral drug called lucerastat in adults with Fabry diseaseA multicenter, double-blind, randomized, placebo-controlled, parallel-group study to determine the efficacy and safety of lucerastat oral monotherapy in adult subjects with Fabry disease. - MODIFY Fabry disease
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Lucerastat
Product Code: ACT-434964
INN or Proposed INN: Lucerastat
Other descriptive name: OGT923
Idorsia Pharmaceuticals LtdNULLNot RecruitingFemale: yes
Male: yes
99Phase 3United States;Spain;Ireland;Austria;Italy;Switzerland;United Kingdom;Canada;Belgium;Poland;Australia;Germany;Netherlands;Norway
236EUCTR2016-000301-37-ES
(EUCTR)
21/06/201806/07/2018Safety and Efficacy of Eliglustat with or without Imiglucerase in Pediatric Patients with Gaucher Disease (GD) Type 1 and Type 3Open label, Two Cohort (with and without Imiglucerase), Multicenter Study to Evaluate Pharmacokinetics, Safety, and Efficacy of Eliglustat in Pediatric Patients with Gaucher Disease Type 1 and Type 3 - ELIKIDS Congenital, hereditary and neonatal diseases
MedDRA version: 20.0;Level: PT;Classification code 10075697;Term: Gaucher's disease type I;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.0;Classification code 10075699;Term: Gaucher's disease type III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Trade Name: Cerdelga
Product Name: Eliglustat
Product Code: GZ385660
INN or Proposed INN: Eliglustat
Other descriptive name: ELIGLUSTAT TARTRATE
Trade Name: Cerezyme
Product Name: Imiglucerase
INN or Proposed INN: IMIGLUCERASE
Other descriptive name: Cerezyme
Product Name: Eliglustat
Product Code: GZ385660
INN or Proposed INN: Eliglustat
Other descriptive name: ELIGLUSTAT TARTRATE
Product Name: Eliglustat
Product Code: GZ385660
INN or Proposed INN: Eliglustat
Other descriptive name: ELIGLUSTAT TARTRATE
Genzyme CorporationNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
120Phase 3France;Egypt;Canada;Argentina;Spain;Turkey;Russian Federation;Netherlands;Italy;United Kingdom;Sweden
237NCT03423186
(ClinicalTrials.gov)
June 19, 201829/1/2018A Study to Assess the Safety and Tolerability of SOBI003 in Pediatric MPS IIIA PatientsAn Open, Non-controlled, Parallel, Ascending Multiple-dose, Multicenter Study to Assess Safety and Tolerability, Pharmacokinetics and Pharmacodynamics of SOBI003 in Pediatric MPS IIIA PatientsSanfilippo Syndrome Type A (MPS IIIA)Drug: SOBI003Swedish Orphan BiovitrumNULLCompleted12 Months72 MonthsAll6Phase 1/Phase 2United States;Germany;Turkey
238NCT03643562
(ClinicalTrials.gov)
June 18, 201819/8/2018Niemann-Pick Type C Treatment With Adrabetadex for Symptoms of Brain and Nervous SystemOpen-label Evaluation of Adrabetadex in Patients With Neurologic Manifestations of Niemann-Pick Type C Disease (NPC)Niemann-Pick Type C DiseaseDrug: AdrabetadexMandos LLCNULLCompleted4 YearsN/AAll27Phase 3United States
239NCT03513328
(ClinicalTrials.gov)
June 15, 201819/4/2018Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell TransplantationPEDS024, Phase I/II Feasibility Study of Busulfan Fludarabine and Thiotepa Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation (HSCT) for Children With Non-Malignant DisordersBone Marrow Failure Syndrome;Thalassemia;Sickle Cell Disease;Diamond Blackfan Anemia;Acquired Neutropenia in Newborn;Acquired Anemia Hemolytic;Acquired Thrombocytopenia;Hemophagocytic Lymphohistiocytoses;Wiskott-Aldrich Syndrome;Chronic Granulomatous Disease;Common Variable Immunodeficiency;X-linked Lymphoproliferative Disease;Severe Combined Immunodeficiency;Hurler Syndrome;Mannosidosis;AdrenoleukodystrophyDrug: Thiotepa--single daily dose;Drug: Thiotepa--escalated doseUniversity of FloridaLive Like Bella Pediatric Cancer ResearchActive, not recruiting3 Months39 YearsAll6Phase 1/Phase 2United States
240NCT03746587
(ClinicalTrials.gov)
June 6, 20181/11/2018Study of Arimoclomol in Patients Diagnosed With Gaucher Disease Type 1 or 3Multicentre Double-blinded, Randomized Placebo-controlled Study of Arimoclomol in Patients Diagnosed With Gaucher Disease Type 1 or 3Gaucher Disease, Type 1;Gaucher Disease, Type 3Drug: Arimoclomol;Drug: Placebo oral capsuleKemPharm Denmark A/SNULLTerminated4 Years60 YearsAll39Phase 2India
241NCT05056636
(ClinicalTrials.gov)
June 1, 201831/8/2021Epidemiological Study of Fabry Disease Screening in Chronic Kidney Disease PatientsEpidemiological Study of Fabry Disease Screening in Chronic Kidney Disease PatientsFabry DiseaseDiagnostic Test: Plasma a-Gal A activity; Plasma Lyso-GB3; GLA genetic sequencing.Chang Gung Memorial HospitalNULLRecruiting18 YearsN/AAll2000Taiwan
242EUCTR2017-003369-85-GB
(EUCTR)
14/05/201816/04/2018A research study to study the effects of a new oral drug called lucerastat in adults with Fabry diseaseA multicenter, double-blind, randomized, placebo-controlled, parallel-group study to determine the efficacy and safety of lucerastat oral monotherapy in adult subjects with Fabry disease. - MODIFY Fabry disease
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Lucerastat
Product Code: ACT-434964
INN or Proposed INN: Lucerastat
Other descriptive name: OGT923
Idorsia Pharmaceuticals LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
99Phase 3United States;Spain;Ireland;Austria;United Kingdom;Italy;Switzerland;Canada;Belgium;Poland;Australia;Germany;Netherlands;Norway
243NCT03488394
(ClinicalTrials.gov)
May 11, 201822/3/2018Gene Therapy With Modified Autologous Hematopoietic Stem Cells for the Treatment of Patients With Mucopolysaccharidosis Type I, Hurler VariantPhase I/II Study Evaluating Safety and Efficacy of Autologous Hematopoietic Stem and Progenitor Cells Genetically Modified With IDUA Lentiviral Vector Encoding for the Human a-L-iduronidase Gene for the Treatment of Patients Affected by Mucopolysaccharidosis Type I, Hurler VariantMucopolysaccharidosis IHGenetic: Frozen autologous CD34+ hematopoietic stem and progenitor cells genetically modified with the lentiviral vector IDUA LV, encoding for the a-L-iduronidase cDNA, in their final formulation medium.IRCCS San RaffaeleFondazione TelethonActive, not recruitingN/A11 YearsAll8Phase 1/Phase 2Italy
244EUCTR2017-001528-23-CZ
(EUCTR)
07/05/201806/03/2018Phase 3 Study of the Safety, Efficacy & PK of pegunigalsidase alfa (PRX-102) 2 mg/kg IV Administered Every 4 Weeks in Fabry Disease Patients (BRIGHT)A Phase 3, Open Label, Switch Over Study to Assess the Safety, Efficacy and Pharmacokinetics of pegunigalsidase alfa (PRX-102) 2 mg/kg Administered by Intravenous Infusion Every 4 Weeks for 52 weeks in Patients with Fabry Disease Currently Treated with Enzyme Replacement Therapy; Fabrazyme® (agalsidase beta) or Replagal™ (agalsidase alfa) Fabry disease (a-galactosidase A deficiency)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: Pegunigalsidase alfa
Protalix Ltd.NULLNot RecruitingFemale: yes
Male: yes
30Phase 3United States;Taiwan;Spain;Turkey;Austria;United Kingdom;Czech Republic;Canada;Belgium;Denmark;Germany;Netherlands;Norway
245NCT03519646
(ClinicalTrials.gov)
April 23, 201820/3/2018Eliglustat on Gaucher Disease Type IIIBEvaluation of the Safety in the Combination Usage of Cerdelga and Cerezyme in Type III Gaucher Disease Patients and the Efficacy on Soft Tissue Diseases.Gaucher Disease, Type IIIDrug: EliglustatNational Taiwan University HospitalSanofiCompleted6 YearsN/AAll4N/ATaiwan
246NCT03721627
(ClinicalTrials.gov)
April 3, 201825/10/2018Chronic Hepatitis C Treatment in Egyptian Children With Gaucher Disease.Efficacy and Safety of Ledipasvir/Sofosbuvir Fixed Dose Combination Therapy in Treatment of Chronic Hepatitis C Infection in Egyptian Children With Gaucher DiseaseGaucher Disease;HCVDrug: Ledipasvir/SofosbuvirMansoura University Children HospitalNULLUnknown status6 Years18 YearsAll10Phase 4Egypt
247EUCTR2016-001318-11-NL
(EUCTR)
27/03/201817/10/2017Safety and Efficacy study assessing PRX 102 in Patients with Fabry Disease currently treated with REPLAGAL® (Agalsidase alfa)An Open Label Study of the Safety and Efficacy of PRX 102 in Patients with Fabry Disease Currently Treated With REPLAGAL® (Agalsidase alfa) Fabry disease (a-galactosidase A deficiency)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: Pegunigalsidase alpha
Protalix Ltd.NULLNot RecruitingFemale: yes
Male: yes
22Phase 3Czech Republic;Slovenia;Canada;Spain;Australia;Norway;Germany;Netherlands;United Kingdom
248EUCTR2017-002430-23-IT
(EUCTR)
14/03/201809/03/2020Gene therapy study with autologous hemapoietic stem cells for patients affected by MPSIHA phase I/II study evaluating safety and efficacy of autologous hematopoietic stem and progenitor cells genetically modified with IDUA lentiviral vector encoding for the human a-L-iduronidase gene for the treatment of patients affected by Mucopolysaccharidosis Type I, Hurler variant - TigetT10_MPS1H Mucopolysaccharidosis type I Hurler
MedDRA version: 20.1;Level: PT;Classification code 10056886;Term: Mucopolysaccharidosis I;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Other descriptive name: Cellule CD34+ autologhe trasdotte con IDUA LV codificante per il cDNA dell'alfa-L-iduronidasi
Trade Name: BUSILVEX - 6 MG/ML - CONCENTRATO PER SOLUZIONE PER INFUSIONE - USO ENDOVENOSO - FLACONCINO - 10 ML 8 FLACONCINI
INN or Proposed INN: BUSULFANO
Other descriptive name: BUSULFANO
Trade Name: FLUDARABINA ACCORD - 25 MG/ML CONCENTRATO PER SOLUZIONE INIETTABILE O PER INFUSIONE 5 FLACONCINI IN VETRO DA 2 ML
INN or Proposed INN: FLUDARABINA FOSFATO
Other descriptive name: FLUDARABINA FOSFATO
Trade Name: MABTHERA - 2 FIALE 100 MG 10 ML
INN or Proposed INN: RITUXIMAB
Other descriptive name: RITUXIMAB
Trade Name: MYELOSTIM - 34 1 FLACONCINO LIOFILIZZATO 33.6 MIU + SIRINGA PRERIEMPITA SOLVENTE 1 ML
INN or Proposed INN: LENOGRASTIM
Other descriptive name: LENOGRASTIM
Trade Name: MOZOBIL - 20 MG/ML - SOLUZIONE INIETTABILE - USO SOTTOCUTANEO - F
OSPEDALE SAN RAFFAELENULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
6Phase 1Italy
249EUCTR2017-003083-13-GB
(EUCTR)
02/03/201811/01/2018Phase 2 study to evaluate Long-Term Safety and Efficacy of AX 250 in Patients with MPS Type IIIBA Multicenter, Multinational, Extension Study to Evaluate the Long-Term Safety and Efficacy of Intracerebroventricular AX 250 in Patients with Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) Mucopolysaccharidosis Type IIIB (Sanfilippo Syndrome Type B, MPSIIIB)
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: N/A
Product Code: AX 250
INN or Proposed INN: Not available
Other descriptive name: RHNAGLU-IGF2
Allievex CorporationNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
33Phase 2United States;Taiwan;Spain;Turkey;Germany;Colombia;United Kingdom
250NCT03454893
(ClinicalTrials.gov)
February 21, 201820/12/2017Open Label, Study Of Efficacy and Safety Of AVR-RD-01 for Treatment-Naive Subjects With Classic Fabry DiseaseAn Open-Label, Multinational Study Of The Efficacy And Safety of Ex Vivo, Lentiviral Vector-Mediated Gene Therapy AVR-RD-01 For Treatment-Naive Subjects With Classic Fabry DiseaseFabry DiseaseDrug: AVR-RD-01AVROBIONULLTerminated16 Years50 YearsMale11Phase 1/Phase 2United States;Australia;Brazil;Canada
251NCT03784287
(ClinicalTrials.gov)
February 19, 201830/3/2018A Treatment Extension Study of Mucopolysaccharidosis Type IIIBA Multicenter, Multinational, Extension Study to Evaluate the Long Term Safety and Efficacy of Intracerebroventricular AX 250 in Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B)Mucopolysaccharidosis Type IIIB;MPS III BDrug: AX 250Allievex CorporationNULLActive, not recruiting0 Years18 YearsAll20Phase 2United States;Colombia;Germany;Spain;Taiwan;Turkey;United Kingdom
252NCT03204370
(ClinicalTrials.gov)
February 1, 20187/6/2017Natural History of Atypical Morquio A DiseaseNatural History of Atypical Morquio A Disease: a 5-years Prospective Study in a Series of 9 Adult Patients Followed in a Single Expert CenterMucopolysaccharidosis IV ADrug: Elosulfase Alfa 1 MG/ML Intravenous Solution [VIMIZIM]GOIZETBioMarin PharmaceuticalActive, not recruiting18 YearsN/AAll10France
253NCT03392987
(ClinicalTrials.gov)
January 25, 201812/12/2017A Safety and Efficacy Study of Cryopreserved OTL-200 for Treatment of Metachromatic Leukodystrophy (MLD)A Single Arm, Open Label, Clinical Study of Cryopreserved Autologous CD34+ Cells Transduced With Lentiviral Vector Containing Human ARSA cDNA (OTL-200), for the Treatment of Early Onset Metachromatic Leukodystrophy (MLD)Lysosomal Storage Disease;Metachromatic LeukodystrophyGenetic: OTL-200Orchard TherapeuticsOspedale San RaffaeleActive, not recruitingN/A6 YearsAll10Phase 2Italy
254EUCTR2016-001988-36-IT
(EUCTR)
12/01/201805/11/2020A study, conducted in several sites, with a duration of 2 years to evaluate the Safety and Efficacy of a new drug named velmanase alfa used in children with Alpha-Mannosidosis below 6 years of ageA 24-month Multicenter, Open-label Phase II Trial Investigating the Safety and Efficacy of Repeated velmanase alfa (recombinant human alpha-mannosidase) Treatment in Pediatric Patients below 6 years of age with Alpha-Mannosidosis - A study, conducted in several sites, with a duration of 2 years to evaluate the Safety and Efficacy Alfa-mannosidosis
MedDRA version: 20.0;Level: LLT;Classification code 10032658;Term: Other specified disorders of carbohydrate transport and metabolism;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Velmanase alfa
Product Code: [rhLAMAN]
INN or Proposed INN: VELMANASE ALFA
Other descriptive name: recombinant human alpha-mannosidase
CHIESI FARMACEUTICI S.P.A.NULLNot RecruitingFemale: yes
Male: yes
3Phase 2France;Denmark;Austria;Germany;Italy
255NCT03370653
(ClinicalTrials.gov)
December 30, 201723/11/2017A Study in MPS VI to Assess Safety and Efficacy of OdiparcilA Phase IIa Study to Investigate Safety, Pharmacokinetics, and Efficacy of Odiparcil in Patients 16 Years and Above With Mucopolysaccharidosis (MPS) Type VIMucopolysaccharidosis VIDrug: Odiparcil;Other: PlaceboInventiva PharmaNULLCompleted16 YearsN/AAll20Phase 2France;Germany;Portugal;United Kingdom
256EUCTR2017-003083-13-ES
(EUCTR)
27/12/201727/11/2017Phase 2 study to evaluate Long-Term Safety and Efficacy of BMN 250 in Patients with MPS Type IIIBA Multicenter, Multinational, Extension Study to Evaluate the Long-Term Safety and Efficacy of Intracerebroventricular BMN 250 in Patients with Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) Mucopolysaccharidosis Type IIIB (Sanfilippo Syndrome Type B, MPSIIIB)
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: N/A
Product Code: BMN 250
INN or Proposed INN: Not available
Other descriptive name: RHNAGLU-IGF2
BioMarin Pharmaceutical Inc.NULLNot RecruitingFemale: yes
Male: yes
33Phase 2Germany;Colombia;United Kingdom;United States;Taiwan;Argentina;Spain;Turkey;Australia
257EUCTR2017-001528-23-ES
(EUCTR)
21/12/201716/10/2017Phase 3 Study of the Safety, Efficacy & PK of pegunigalsidase alfa (PRX-102) 2 mg/kg IV Administered Every 4 Weeks in Fabry Disease Patients (BRIGHT)A Phase 3, Open Label, Switch Over Study to Assess the Safety, Efficacy and Pharmacokinetics of pegunigalsidase alfa (PRX-102) 2 mg/kg Administered by Intravenous Infusion Every 4 Weeks for 52 weeks in Patients with Fabry Disease Currently Treated with Enzyme Replacement Therapy; Fabrazyme® (agalsidase beta) or Replagal™ (agalsidase alfa) Fabry disease (a-galactosidase A deficiency)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: Pegunigalsidase alfa
Protalix Ltd.NULLNot RecruitingFemale: yes
Male: yes
30Phase 3United States;Czech Republic;Canada;Belgium;Spain;Turkey;Denmark;Netherlands;Germany;Italy;United Kingdom
258EUCTR2016-001318-11-DE
(EUCTR)
15/12/201710/01/2017Safety and Efficacy study assessing PRX 102 in Patients with Fabry Disease currently treated with REPLAGAL® (Agalsidase alfa)An Open Label Study of the Safety and Efficacy of PRX 102 in Patients with Fabry Disease Currently Treated With REPLAGAL® (Agalsidase alfa) Fabry disease (a-galactosidase A deficiency)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: Pegunigalsidase alpha
Protalix Ltd.NULLNot RecruitingFemale: yes
Male: yes
22Phase 3Czech Republic;Slovenia;Canada;Spain;Australia;Norway;Netherlands;Germany;United Kingdom
259EUCTR2017-001730-26-IT
(EUCTR)
30/11/201708/04/2019Gene therapy study using a frozen formulation of OTL-200 in patients with Metachromatic Leukodystrophy (MLD).A single arm, open label, clinical study of cryopreserved autologous CD34+ cells transduced with lentiviral vector containing human ARSA cDNA OTL-200, for the treatment of early onset Metachromatic Leukodystrophy (MLD). - A clinical study using cryopreserved OTL-200 for treatment of MLD. Metachromatic Leukodystrophy
MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: OTL-200 Dispersion for Infusion
Product Code: [OTL-200]
Orchard Therapeutics (Europe) LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
10Phase 3Italy
260EUCTR2016-000378-38-IT
(EUCTR)
20/11/201706/02/2018Safety and effectiveness study comparing PRX-102 and Agalsidase Beta on Kidney function for patients with Fabry Disease who have previously been treated with Agalsidase BetaA Randomized, Double blind, Active Control Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta - Safety and effectiveness study comparing PRX-102 and Agalsidase Beta on Kidney function for patients Fabry disease (a-galactosidase A deficiency)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: Pegunigalsidase alpha
Trade Name: FABRAZYME - 35 MG POLVERE PER CONCENTRATO PER SOLUZIONE PER INFUSIONE ENDOVENOSA 1 FLACONCINO
Product Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Trade Name: FABRAZYME - 35 MG POLVERE PER CONCENTRATO PER SOLUZIONE PER INFUSIONE ENDOVENOSA 1 FLACONCINO
Product Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
PROTALIX LTDNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
78Phase 3United States;Slovenia;Paraguay;Spain;Turkey;Italy;United Kingdom;Czech Republic;Hungary;Canada;Belgium;Australia;Germany;Netherlands;Norway
261EUCTR2017-002158-35-GB
(EUCTR)
16/11/201708/08/2017Study to investigate the fate of odiparcil since its administration up to the point is completely eliminated, its safety and efficacy in patients 16 years and above with mucopolysaccharidosis (MPS) type VIA phase IIa study to investigate safety, Pharmacokinetics, and efficacy of odiparcil in patients 16 years and above with mucopolysaccharidosis (MPS) type VI. Mucopolysaccharidosis (MPS) type VI.
MedDRA version: 20.1;Level: PT;Classification code 10028095;Term: Mucopolysaccharidosis IV;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Odiparcil
Product Code: IVA 336
INN or Proposed INN: Odiparcil
Inventiva S.A.NULLNot Recruiting Female: yes
Male: yes
20 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noPortugal;France;Germany;United Kingdom
262EUCTR2016-001318-11-SI
(EUCTR)
13/11/201705/10/2017Safety and Efficacy study assessing PRX 102 in Patients with Fabry Disease currently treated with REPLAGAL® (Agalsidase alfa)An Open Label Study of the Safety and Efficacy of PRX 102 in Patients with Fabry Disease Currently Treated With REPLAGAL® (Agalsidase alfa) Fabry disease (a-galactosidase A deficiency)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: Pegunigalsidase alpha
Protalix Ltd.NULLNot RecruitingFemale: yes
Male: yes
22Phase 3Czech Republic;Slovenia;Canada;Spain;Australia;Norway;Netherlands;Germany;United Kingdom
263NCT03639844
(ClinicalTrials.gov)
November 6, 201717/8/2018BPX-501 T Cells Infused Post Stem Cell Transplant in Pediatrics With Non-Malignant Disorders Ineligible for BPU004 StudyExpanded Access Protocol for CaspaCIDe T Cells From An HLA-Partially Matched Related Donor After Negative Selection of TCR aß+T Cells In Pediatric Patients Affected by Hematological and Other DisordersHurler Syndrome;Inherited Metabolic Disorder;Lysosomal Storage Disorder;Metachromatic Leukodystrophy;Inborn Errors of MetabolismBiological: rivogenlecleucel;Drug: rimiducidBellicum PharmaceuticalsNULLNo longer available3 Months21 YearsAllUnited States
264EUCTR2017-001528-23-GB
(EUCTR)
18/10/201728/06/2017Phase 3 Study of the Safety, Efficacy & PK of pegunigalsidase alfa (PRX-102) 2 mg/kg IV Administered Every 4 Weeks in Fabry Disease Patients (BRIGHT)A Phase 3, Open Label, Switch Over Study to Assess the Safety, Efficacy and Pharmacokinetics of pegunigalsidase alfa (PRX-102) 2 mg/kg Administered by Intravenous Infusion Every 4 Weeks for 52 weeks in Patients with Fabry Disease Currently Treated with Enzyme Replacement Therapy; Fabrazyme® (agalsidase beta) or Replagal™ (agalsidase alfa) Fabry disease (a-galactosidase A deficiency)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: Pegunigalsidase alfa
Protalix Ltd.NULLNot RecruitingFemale: yes
Male: yes
30Phase 3United States;Czech Republic;Canada;Spain;Belgium;Turkey;Denmark;Netherlands;Germany;United Kingdom
265NCT02939547
(ClinicalTrials.gov)
October 11, 201721/9/2016Study of the Pharmacokinetics of Trappsol and Effects on Potential Biomarkers of Niemann-Pick C1 (NPC1)A Phase I Study to Evaluate the Single and Multiple-dose Pharmacokinetics of Intravenous Trappsol Cyclo (HP-Beta-CD) in Patients With Niemann-Pick Disease Type C (NPC-1) and the Effects of Dosing Upon Biomarkers of NPC DiseaseNiemann-Pick Disease, Type C1Drug: Hydroxypropyl-beta-cyclodextrinCyclo Therapeutics, Inc.NULLCompleted18 YearsN/AAll13Phase 1United States
266EUCTR2017-000645-48-FI
(EUCTR)
21/09/201731/05/2017Cystadane in the treatment of AGUOpen-label study to evaluate efficacy and safety of Cystadane for the treatment of aspartylglucosaminuria - Cystadane in the treatment of AGU Aspartylglucosaminuria;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]Trade Name: Cystadane anhydrousMinna LaineProf. Ritva Tikkanen Authorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
Phase 2Finland
267EUCTR2015-000891-85-GB
(EUCTR)
05/09/201706/03/2017Phase 2 study to evaluate safety and efficacy of BMN 190 in patients with CLN2A Phase 2, Open-Label, Multicenter Study to Evaluate Safety, Tolerability, and Efficacy of Intracerebroventricular BMN 190 in Pediatric Patients < 18 years of age with CLN2 Disease Neuronal Ceroid Lipofuscinosis type 2 (CLN2) disease
MedDRA version: 20.1;Level: LLT;Classification code 10052074;Term: Neuronal ceroid lipofuscinosis NOS;System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Trade Name: Brineura
Product Name: cerliponase alfa
Product Code: BMN 190
INN or Proposed INN: cerliponase alfa
Other descriptive name: recombinant human tripeptidyl peptidase-1
BioMarin Pharmaceutical IncNULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
10 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noUnited States;Germany;Italy;United Kingdom
268EUCTR2017-001528-23-BE
(EUCTR)
21/08/201728/07/2017Phase 3 Study of the Safety, Efficacy & PK of pegunigalsidase alfa (PRX-102) 2 mg/kg IV Administered Every 4 Weeks in Fabry Disease Patients (BRIGHT)A Phase 3, Open Label, Switch Over Study to Assess the Safety, Efficacy and Pharmacokinetics of pegunigalsidase alfa (PRX-102) 2 mg/kg Administered by Intravenous Infusion Every 4 Weeks for 52 weeks in Patients with Fabry Disease Currently Treated with Enzyme Replacement Therapy; Fabrazyme® (agalsidase beta) or Replagal™ (agalsidase alfa) Fabry disease (a-galactosidase A deficiency)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: Pegunigalsidase alfa
Protalix Ltd.NULLNot RecruitingFemale: yes
Male: yes
30Phase 3United States;Czech Republic;Canada;Spain;Belgium;Turkey;Denmark;Netherlands;Germany;United Kingdom
269EUCTR2016-000378-38-SI
(EUCTR)
14/08/201730/06/2017Safety and effectiveness study comparing PRX-102 and Agalsidase Beta on Kidney function for patients with Fabry Disease who have previously been treated with Agalsidase Beta A Randomized, Double blind, Active Control Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta Fabry disease (a-galactosidase A deficiency)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: Pegunigalsidase alpha
Trade Name: Fabrazyme
Product Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Other descriptive name: N/A
Trade Name: Fabrazyme
Product Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Other descriptive name: N/A
Protalix Ltd.NULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
78 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): noUnited States;Slovenia;Paraguay;Finland;Spain;Turkey;Italy;Switzerland;United Kingdom;France;Hungary;Czech Republic;Canada;Argentina;Belgium;Brazil;Australia;Denmark;Norway;Netherlands;Germany
270EUCTR2016-001988-36-DE
(EUCTR)
09/08/201714/02/2017A study, conducted in several sites, with a duration of 2 years to evaluate the Safety and Efficacy of a new drug named velmanase alfa used in children with Alpha-Mannosidosis below 6 years of ageA 24-month Multicenter, Open-label Phase II Trial Investigating the Safety and Efficacy of Repeated velmanase alfa (recombinant human alpha-mannosidase) Treatment in Pediatric Patients below 6 years of age with Alpha-Mannosidosis Alfa-mannosidosis
MedDRA version: 20.0;Level: LLT;Classification code 10032658;Term: Other specified disorders of carbohydrate transport and metabolism;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Velmanase alfa
INN or Proposed INN: VELMANASE ALFA
Other descriptive name: recombinant human alpha-mannosidase
Chiesi Farmaceutici S.p.A.NULLNot RecruitingFemale: yes
Male: yes
3Phase 2Austria;Denmark;Germany
271NCT03173521
(ClinicalTrials.gov)
July 17, 201712/4/2017Gene Therapy in Patients With Mucopolysaccharidosis DiseaseA Phase I/II Open Label, Dose Escalation, Safety Study in Subjects With Mucopolysaccharidosis Type VI (MPS VI) Using Adeno-Associated Viral Vector 8 to Deliver the Human ARSB Gene to LiverMucopolysaccharidosis Type VIBiological: AAV2/8.TBG.hARSBFondazione TelethonNULLActive, not recruiting4 Years65 YearsAll9Phase 1/Phase 2Italy;Turkey;Netherlands
272NCT03180840
(ClinicalTrials.gov)
July 10, 201729/5/2017Safety, Efficacy, & PK of PRX-102 in Patients With Fabry Disease Administered Intravenously Every 4 WeeksPhase 3 Open-Label Switch Over Study to Assess Safety, Efficacy & PK of Pegunigalsidase Alfa (PRX-102) 2mg/kg IV Every 4 Weeks for 52 Weeks in Fabry Disease Patients Currently Treated With Enzyme Replacement Therapy Fabrazyme® or Replagal™Fabry DiseaseBiological: Pegunigalsidase alfaProtalixNULLCompleted18 Years60 YearsAll30Phase 3United States;Belgium;Czechia;Denmark;Italy;Norway;United Kingdom;Canada;Netherlands;Spain;Taiwan;Turkey
273NCT02921620
(ClinicalTrials.gov)
July 201726/9/2016Study to Evaluate the Safety and EffIcacy of PRX-102 on Gastrointestinal Symptoms in Naïve Fabry DiseaseA Randomized, Double Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of PRX-102 on Gastrointestinal Symptoms in Naïve Fabry Disease PatientsFabry DiseaseBiological: PRX-102;Other: PlaceboProtalixNULLWithdrawn14 Years45 YearsMale0Phase 3NULL
274NCT02702115
(ClinicalTrials.gov)
May 24, 201729/2/2016Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-318 in Subjects With MPS IA Phase I / 2, Multicenter, Open-label, Single-dose, Dose-ranging Study to Assess the Safety and Tolerability of SB-318, a rAAV2/6-based Gene Transfer in Subjects With Mucopolysaccharidosis I (MPS I)MPS IBiological: SB-318Sangamo TherapeuticsNULLActive, not recruiting5 YearsN/AAll3Phase 1/Phase 2United States
275EUCTR2016-000378-38-NL
(EUCTR)
24/05/201717/01/2017Safety and effectiveness study comparing PRX-102 and Agalsidase Beta on Kidney function for patients with Fabry Disease who have previously been treated with Agalsidase Beta A Randomized, Double blind, Active Control Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta Fabry disease (a-galactosidase A deficiency)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: Pegunigalsidase alpha
Trade Name: Fabrazyme
Product Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Other descriptive name: N/A
Trade Name: Fabrazyme
Product Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Other descriptive name: N/A
Protalix Ltd.NULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
78 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): noUnited States;Slovenia;Paraguay;Finland;Spain;Turkey;Italy;United Kingdom;France;Hungary;Czech Republic;Canada;Argentina;Belgium;Brazil;Australia;Norway;Netherlands;Germany
276NCT03041324
(ClinicalTrials.gov)
May 11, 201713/1/2017Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-913 in Subjects With MPS IIA Phase I / 2, Multicenter, Open-label, Single-dose, Dose-ranging Study to Assess the Safety and Tolerability of SB-913, a rAAV2/6-based Gene Transfer in Subjects With Mucopolysaccharidosis II (MPS II)Mucopolysaccharidosis II;MPS IIBiological: SB-913Sangamo TherapeuticsNULLTerminated5 Years65 YearsAll9Phase 1/Phase 2United States
277EUCTR2016-001988-36-AT
(EUCTR)
10/04/201722/02/2017A study, conducted in several sites, with a duration of 2 years to evaluate the Safety and Efficacy of a new drug named velmanase alfa used in children with Alpha-Mannosidosis below 6 years of ageA 24-month Multicenter, Open-label Phase II Trial Investigating the Safety and Efficacy of Repeated velmanase alfa (recombinant human alpha-mannosidase) Treatment in Pediatric Patients below 6 years of age with Alpha-Mannosidosis Alfa-mannosidosis
MedDRA version: 20.0;Level: LLT;Classification code 10032658;Term: Other specified disorders of carbohydrate transport and metabolism;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Velmanase alfa
INN or Proposed INN: VELMANASE ALFA
Other descriptive name: recombinant human alpha-mannosidase
Chiesi Farmaceutici S.p.A.NULLNot RecruitingFemale: yes
Male: yes
3Phase 2Denmark;Austria;Germany
278NCT03128593
(ClinicalTrials.gov)
March 30, 201710/4/2017A Study of JR-141 in Patients With Mucopolysaccharidosis Type IIA Phase I/II Study of JR-141 in Patients With Mucopolysaccharidosis Type IIMucopolysaccharidosis IIDrug: JR-141JCR Pharmaceuticals Co., Ltd.NULLCompleted6 YearsN/AMale14Phase 1/Phase 2Japan
279NCT02956954
(ClinicalTrials.gov)
March 25, 20173/11/2016Follow-up of Myocardial T1 Relaxation Time in Patients With Anderson Fabry DiseaseFollow-up of Myocardial T1 Relaxation Time in Patients With Anderson Fabry Disease (AFD): Impact of Treatment by Agalsidase Alpha (Replagal®)Anderson-Fabry DiseaseDrug: Enzyme replacement therapy (Agalsidase alpha (Replagal®));Procedure: Magnetic Resonance ImagingUniversity Hospital, RouenNULLUnknown status18 YearsN/AAll25N/AFrance
280EUCTR2016-001318-11-GB
(EUCTR)
24/03/201704/10/2016Safety and Efficacy study assessing PRX 102 in Patients with Fabry Disease currently treated with REPLAGAL® (Agalsidase alfa)An Open Label Study of the Safety and Efficacy of PRX 102 in Patients with Fabry Disease Currently Treated With REPLAGAL® (Agalsidase alfa) Fabry disease (a-galactosidase A deficiency)
MedDRA version: 19.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: Pegunigalsidase alpha
Protalix Ltd.NULLNot RecruitingFemale: yes
Male: yes
22Phase 3Czech Republic;Slovenia;Canada;Spain;Australia;Norway;Netherlands;Germany;United Kingdom
281NCT02912793
(ClinicalTrials.gov)
March 20, 201719/8/2016Safety and Efficacy of Intravenous Trappsol Cyclo (HPBCD) in Niemann-Pick Type C PatientsA Phase I/II Study to Evaluate the Safety and PK of iv Trappsol Cyclo (HP-ß-CD) in Patients With Niemann-Pick Disease Type C NPC-1 and the Pharmacodynamic Effects of Treatment Upon Markers of Cholesterol Metabolism and Clinical OutcomesNiemann-Pick Disease, Type C1Drug: Hydroxypropyl-beta-cyclodextrinCyclo Therapeutics, Inc.NULLCompleted2 YearsN/AAll12Phase 1/Phase 2Israel;Sweden;United Kingdom
282EUCTR2012-003775-20-IT
(EUCTR)
20/03/201715/03/2017A safety and efficacy extension of study HGT-MLD-070 in Children with Metachromatic Leukodystrophy recieving enzyme (HGT-1110) replacement by intrathecal injectionAn Open-label Extension of Study HGT-MLD-070 Evaluating Long Term Safety and Efficacy of Intrathecal Administration of HGT-1110 in Patients with Metachromatic Leukodystrophy Treatment of Metachromatic Leukodystrophy
MedDRA version: 19.1;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Code: SHP611
INN or Proposed INN: Not available
Other descriptive name: Recombinant Human Arylsulfatase A (rhASA)
Shire Human Genetics Therapies IncNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
24Phase 1;Phase 2France;Czech Republic;Brazil;Denmark;Australia;Germany;Japan;United Kingdom;Italy
283EUCTR2016-001988-36-FR
(EUCTR)
27/02/201718/09/2020A study, conducted in several sites, with a duration of 2 years to evaluate the Safety and Efficacy of a new drug named velmanase alfa used in children with Alpha-Mannosidosis below 6 years of ageA 24-month Multicenter, Open-label Phase II Trial Investigating the Safety and Efficacy of Repeated velmanase alfa (recombinant human alpha-mannosidase) Treatment in Pediatric Patients below 6 years of age with Alpha-Mannosidosis Alfa-mannosidosis
MedDRA version: 20.0;Level: LLT;Classification code 10032658;Term: Other specified disorders of carbohydrate transport and metabolism;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Velmanase alfa
INN or Proposed INN: VELMANASE ALFA
Other descriptive name: recombinant human alpha-mannosidase
Chiesi Farmaceutici S.p.A.NULLNot RecruitingFemale: yes
Male: yes
3Phase 2France;Austria;Denmark;Germany;Italy
284NCT03018730
(ClinicalTrials.gov)
February 23, 20179/1/2017Safety and Efficacy of PRX 102 in Patients With Fabry Disease Currently Treated With REPLAGAL® (Agalsidase Alfa)An Open Label Study of the Safety and Efficacy of PRX 102 in Patients With Fabry Disease Currently Treated With REPLAGAL® (Agalsidase Alfa)Fabry DiseaseBiological: PRX-102 (pegunigalsidase alfa)ProtalixNULLCompleted18 Years60 YearsAll22Phase 3Australia;Canada;Czechia;Germany;Netherlands;Norway;Slovenia;Spain;United Kingdom;Czech Republic
285EUCTR2016-002328-10-IT
(EUCTR)
22/02/201717/06/2021Gene Therapy in patients with Mucopolysaccharidosis diseaseA Phase I/II Open Label, Dose Escalation, Safety Study in Subjects with Mucopolysaccharidosis type VI (MPS VI) Using Adeno-Associated Viral Vector 8 to Deliver the human ARSB gene to Liver. - TIGEM1-MPSVI The clinical trial will be conducted on patients with Mucopolysaccharidosis Type VI. MPS VI is characterized by growth retardation, corneal clouding, cardiac valve disease, organomegaly, skeletal dysplasia, without central nervous system involvement
MedDRA version: 21.1;Level: PT;Classification code 10059318;Term: Hepatic cancer stage I;System Organ Class: 10029104 - Neoplasms benign, malignant and unspecified (incl cysts and polyps)
MedDRA version: 20.1;Classification code 10054889;Term: Transaminases increased;System Organ Class: 10022891 - Investigations
MedDRA version: 20.0;Level: LLT;Classification code 10037933;Term: Reaction anaphylactic anaphylactoid;System Organ Class: 100000004870
MedDRA version: 20.0;Classification code 10019717;Term: Hepatitis;System Organ Class: 10019805 - Hepatobiliary disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: AAV2/8.TBG.hARSB
Product Code: [AAV2/8.TBG.hARSB]
FONDAZIONE TELETHONNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
10Phase 1Turkey;Netherlands;Italy
286EUCTR2015-005761-23-SE
(EUCTR)
19/01/201709/09/2016A Phase I/II study to evaluate Trappsol Cyclo (hydroxypropyl-ß-cyclodextrin) in patients with Niemann-Pick disease type C (NPC-1) to assess what the drug does to the body, and what the body does to the drug, and the side effects and benefits experienced by patientsA Phase I/II study to evaluate the safety and pharmacokinetics of intravenous Trappsol Cyclo (HP-ß-CD) in patients with Niemann-Pick disease type C (NPC-1) and the pharmacodynamic effects of treatment upon markers of cholesterol metabolism and clinical outcomes Niemann-Pick disease type C
MedDRA version: 20.0;Level: PT;Classification code 10029403;Term: Niemann-Pick disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Trappsol Cyclo
INN or Proposed INN: hydroxypropyl-beta-cyclodextrin
Other descriptive name: hydroxypropyl-beta-cyclodextrin
Cyclo Therapeutics, Inc.NULLNot RecruitingFemale: yes
Male: yes
11Phase 1;Phase 2United Kingdom;Italy;Sweden
287EUCTR2016-001318-11-CZ
(EUCTR)
19/01/201712/12/2016Safety and Efficacy study assessing PRX 102 in Patients with Fabry Disease currently treated with REPLAGAL® (Agalsidase alfa)An Open Label Study of the Safety and Efficacy of PRX 102 in Patients with Fabry Disease Currently Treated With REPLAGAL® (Agalsidase alfa) Fabry disease (a-galactosidase A deficiency)
MedDRA version: 19.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: Pegunigalsidase alpha
Protalix Ltd.NULLNot RecruitingFemale: yes
Male: yes
22Phase 3Czech Republic;Slovenia;Canada;Spain;Australia;Norway;Netherlands;Germany;United Kingdom
288EUCTR2016-001318-11-ES
(EUCTR)
11/01/201724/10/2016Safety and Efficacy study assessing PRX 102 in Patients with Fabry Disease currently treated with REPLAGAL® (Agalsidase alfa)An Open Label Study of the Safety and Efficacy of PRX 102 in Patients with Fabry Disease Currently Treated With REPLAGAL® (Agalsidase alfa) Fabry disease (a-galactosidase A deficiency)
MedDRA version: 19.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: Pegunigalsidase alpha
Protalix Ltd.NULLNot RecruitingFemale: yes
Male: yes
22Phase 3Czech Republic;Slovenia;Canada;Spain;Australia;Norway;Netherlands;Germany;United Kingdom
289NCT02843035
(ClinicalTrials.gov)
January 4, 201720/7/2016Venglustat in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 With Venglustat Monotherapy ExtensionA 4-part, Open-label, Multicenter, Multinational Study of the Safety, Tolerability, Pharmacokinetics, Pharmacodynamic, and Exploratory Efficacy of Venglustat in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 With Venglustat Monotherapy ExtensionGaucher Disease Type 1;Gaucher Disease Type 3Drug: venglustat (GZ402671);Drug: imigluceraseGenzyme, a Sanofi CompanyNULLActive, not recruiting18 YearsN/AAll13Phase 2United States;Germany;Japan;United Kingdom
290NCT04353466
(ClinicalTrials.gov)
January 1, 201713/4/2020Assessing the Impact of Elelyso on Bone Involvement Currently Treated With Other ERTsAn Open-label, Investigator Initiated Clinical Trial to Asses Impact of Elelyso on Bone Involvement in Patients With Gaucher Disease Currently Treated With Other ERTsGaucher Disease, Type 1Procedure: quantitative chemical shift imaging (QCSI);Drug: ElelysoShaare Zedek Medical CenterPfizerCompleted18 YearsN/AAll30N/ANULL
291EUCTR2016-000378-38-NO
(EUCTR)
27/12/201607/09/2016Safety and effectiveness study comparing PRX-102 and Agalsidase Beta on Kidney function for patients with Fabry Disease who have previously been treated with Agalsidase BetaA Randomized, Double blind, Active Control Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta Fabry disease (a-galactosidase A deficiency)
MedDRA version: 19.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: Pegunigalsidase alpha
Trade Name: Fabrazyme
Product Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Other descriptive name: N/A
Trade Name: Fabrazyme
Product Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Other descriptive name: N/A
Protalix Ltd.NULLNot RecruitingFemale: yes
Male: yes
78Phase 3United States;Slovenia;Paraguay;Finland;Spain;Turkey;Italy;United Kingdom;France;Czech Republic;Hungary;Canada;Belgium;Australia;Norway;Germany;Netherlands
292EUCTR2016-000378-38-BE
(EUCTR)
05/12/201630/09/2016Safety and effectiveness study comparing PRX-102 and Agalsidase Beta on Kidney function for patients with Fabry Disease who have previously been treated with Agalsidase Beta A Randomized, Double blind, Active Control Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta Fabry disease (a-galactosidase A deficiency)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: Pegunigalsidase alpha
Trade Name: Fabrazyme
Product Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Other descriptive name: N/A
Trade Name: Fabrazyme
Product Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Other descriptive name: N/A
Protalix Ltd.NULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
78 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): noUnited States;Slovenia;Paraguay;Finland;Spain;Turkey;Italy;United Kingdom;France;Czech Republic;Hungary;Canada;Argentina;Belgium;Brazil;Australia;Norway;Netherlands;Germany
293NCT02663024
(ClinicalTrials.gov)
December 201617/1/2016Study of Idursulfase-beta (GC1111) in Hunter SyndromePhase 2, Randomized, Double-blind, Active-controlled, Dose-ranging Study to Evaluate the Pharmacokinetics, Pharmacodynamics and Safety of Idursulfase-beta (GC1111) in Hunter Syndrome (Mucopolysaccharidosis II) PatientsMucopolysaccharidosis IIBiological: idursulfase beta;Biological: idursulfaseGreen Cross CorporationNULLNot yet recruiting5 Years35 YearsMale20Phase 2NULL
294NCT02998879
(ClinicalTrials.gov)
December 201625/11/2016Trial on Safety and Efficacy of Velmanase Alfa Treatment in Pediatric Patients With Alpha-MannosidosisA 24-month Multicenter, Open-label Phase II Trial Investigating the Safety and Efficacy of Repeated Velmanase Alfa (Recombinant Human Alpha-mannosidase) Treatment in Pediatric Patients Below 6 Years of Age With Alpha-MannosidosisAlpha-MannosidosisDrug: Velmanase Alfa (e.g. Lamazym)Chiesi Farmaceutici S.p.A.CromsourceCompletedN/A6 YearsAll5Phase 2Austria;Denmark;France;Germany;Italy
295EUCTR2015-004438-93-IT
(EUCTR)
08/11/201619/05/2016A clinical study to investigate the study drug Arimoclomol in a double blind, randomised, placebo-controlled study in patients diagnosed with Niemann Pick disease type C.Arimoclomol prospective double blind, randomised, placebo-controlled study in patients diagnosed with Niemann Pick disease type C - Investigate study drug Arimoclomol with patients diagnosed with Niemann Pick disease type C. Niemann Pick disease type C
MedDRA version: 19.0;Level: PT;Classification code 10029403;Term: Niemann-Pick disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Arimoclomol
Product Code: _
INN or Proposed INN: Arimoclomol
Other descriptive name: _
Product Name: Arimoclomol
Product Code: _
INN or Proposed INN: Arimoclomol
Other descriptive name: _
Product Name: Arimoclomol
Product Code: _
INN or Proposed INN: Arimoclomol
Other descriptive name: _
Orphazyme ApSNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
46Phase 2;Phase 3Switzerland;Italy;France;United States;Poland;Spain;Denmark;Germany;United Kingdom
296NCT02995993
(ClinicalTrials.gov)
November 201614/12/2016Pharmacokinetics, Pharmacodynamics, and Safety of Moss-aGalactosidase A in Patients With Fabry DiseaseAn Open-Label, Multi-Center Study to Evaluate the Pharmacokinetics, Pharmacodynamics, and Safety of Moss-aGal in Patients With Fabry DiseaseFabry DiseaseDrug: Moss-aGal (recombinant human alpha-galactosidase A produced in moss)Greenovation Biotech GmbHFGK Clinical Research GmbHCompleted18 Years65 YearsAll6Phase 1Germany
297EUCTR2014-002550-39-DE
(EUCTR)
20/10/201625/04/2016GZ/SAR402671 in Combination with Cerezyme in Adult Patients with Gaucher Disease Type 3A 208-week three-part, open-label, multicenter, multinational study of the safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of GZ/SAR402671 in combination with Cerezyme in adult patients with Gaucher disease type 3 - LEAP Gaucher disease
MedDRA version: 20.0;Level: PT;Classification code 10075699;Term: Gaucher's disease type III;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.0;Classification code 10075697;Term: Gaucher's disease type I;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Code: SAR402671, GZ402671 or GZ/SAR402671
Other descriptive name: Genz-682452-AU
Product Code: SAR402671, GZ402671 or GZ/SAR402671
Other descriptive name: Genz-682452-AU
Genzyme CorporationNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
15Phase 2United States;Japan;United Kingdom;Germany
298EUCTR2016-001988-36-DK
(EUCTR)
05/10/201611/07/2016A study, conducted in several sites, with a duration of 2 years to evaluate the Safety and Efficacy of a new drug named velmanase alfa used in children with Alpha-Mannosidosis below 6 years of ageA 24-month Multicenter, Open-label Phase II Trial Investigating the Safety and Efficacy of Repeated velmanase alfa (recombinant human alpha-mannosidase) Treatment in Pediatric Patients below 6 years of age with Alpha-Mannosidosis Alfa-mannosidosis
MedDRA version: 20.0;Level: LLT;Classification code 10032658;Term: Other specified disorders of carbohydrate transport and metabolism;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Velmanase alfa
INN or Proposed INN: VELMANASE ALFA
Other descriptive name: recombinant human alpha-mannosidase
Chiesi Farmaceutici S.p.A.NULLNot RecruitingFemale: yes
Male: yes
3Phase 2Austria;Denmark;Germany;Italy
299EUCTR2015-004438-93-DE
(EUCTR)
04/10/201610/05/2016A clinical study to investigate the study drug Arimoclomol in a double blind, randomised, placebo-controlled study in patients diagnosed with Niemann Pick disease type CArimoclomol prospective double blind, randomised, placebo-controlled study in patients diagnosed with Niemann Pick disease type C - Investigate study drug Arimoclomol with patients diagnosed with Niemann Pick disease type C. Niemann Pick disease type C
MedDRA version: 20.0;Level: PT;Classification code 10029403;Term: Niemann-Pick disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Arimoclomol (hard gelatine capsule)
Product Code: _
INN or Proposed INN: Arimoclomol citrate
Product Name: Arimoclomol (hard gelatine capsule)
Product Code: _
INN or Proposed INN: Arimoclomol citrate
Product Name: Arimoclomol (hard gelatine capsule)
INN or Proposed INN: Arimoclomol citrate
Product Name: Arimoclomol (HPMC capsule)
Product Code: _
INN or Proposed INN: Arimoclomol citrate
Product Name: Arimoclomol (HPMC capsule)
Product Code: _
INN or Proposed INN: Arimoclomol citrate
Product Name: Arimoclomol (HPMC capsule)
Product Code: _
INN or Proposed INN: Arimoclomol citrate
Orphazyme A/SNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
57Phase 2;Phase 3United States;France;Spain;Poland;Denmark;Germany;United Kingdom;Switzerland;Italy
300EUCTR2015-000104-26-PT
(EUCTR)
03/10/201603/05/2016A safety, tolerability and efficacy study in MPS 7 patients less than 5 years of age receiving enzyme (UX003) replacement by intravenous injectionAn Open-label Study of UX003 rhGUS Enzyme Replacement Therapy in MPS 7 Patients Less than 5 Years Old Mucopolysaccharidosis type 7 (MPS 7, Sly syndrome);Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]Product Name: Recombinant human beta-glucuronidase
Product Code: UX003
INN or Proposed INN: Not available
Other descriptive name: RECOMBINANT HUMAN BETA GLUCURONIDASE; RHGUS
Ultragenyx Pharmaceutical Inc.NULLNot Recruiting Female: yes
Male: yes
15 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noUnited States;Portugal;Spain
301JPRN-UMIN000023517
2016/10/0101/10/2016A study on the efficacy and safety of cyclodextrin intrathecal long-term administration for Niemann-Pick disease type CA study on the efficacy and safety of cyclodextrin intrathecal long-term administration for Niemann-Pick disease type C - IT-HPBCD therapy for NPC (Long-term) Niemann-Pick disease type C2-hydroxypropyl-beta-cyclodextrin (HPBCD) 20mg/kg/dose, every 3-4 weeks, for three yearsNara Medical UniversityNULLPending4years-old6years-oldMale and Female1Not selectedJapan
302NCT03071341
(ClinicalTrials.gov)
October 201627/2/2017Extension Study Evaluating Long Term Safety and Activity of AGT-181 in Children With MPS IAn Extension Study Evaluating Long Term Safety and Activity of AGT-181 in Patients With Mucopolysaccharidosis I Who Were Previously Enrolled in Studies With AGT-181Mucopolysaccharidosis IDrug: AGT-181ArmaGen, IncNULLCompleted2 YearsN/AAll19Phase 1/Phase 2Brazil
303EUCTR2015-005761-23-GB
(EUCTR)
26/09/201603/08/2016A Phase I/II study to evaluate Trappsol Cyclo (hydroxypropyl-ß-cyclodextrin) in patients with Niemann-Pick disease type C (NPC-1) to assess what the drug does to the body, and what the body does to the drug, and the side effects and benefits experienced by patientsA Phase I/II study to evaluate the safety and pharmacokinetics of intravenous Trappsol Cyclo (HP-ß-CD) in patients with Niemann-Pick disease type C (NPC-1) and the pharmacodynamic effects of treatment upon markers of cholesterol metabolism and clinical outcomes Niemann-Pick disease type C
MedDRA version: 20.0;Level: PT;Classification code 10029403;Term: Niemann-Pick disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Trappsol Cyclo
INN or Proposed INN: hydroxypropyl-beta-cyclodextrin
Other descriptive name: hydroxypropyl-beta-cyclodextrin
CTD Holdings, Inc.NULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
12 Human pharmacology (Phase 1): yes Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noItaly;United Kingdom;Sweden
304EUCTR2016-000378-38-HU
(EUCTR)
15/09/201611/07/2016Safety and effectiveness study comparing PRX-102 and Agalsidase Beta on Kidney function for patients with Fabry Disease who have previously been treated with Agalsidase BetaA Randomized, Double blind, Active Control Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta Fabry disease (a-galactosidase A deficiency)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: Pegunigalsidase alpha
Trade Name: Fabrazyme
Product Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Other descriptive name: N/A
Trade Name: Fabrazyme
Product Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Other descriptive name: N/A
Protalix Ltd.NULLNot RecruitingFemale: yes
Male: yes
78Phase 3United States;Slovenia;Paraguay;Finland;Spain;Turkey;Italy;United Kingdom;France;Hungary;Czech Republic;Canada;Argentina;Belgium;Brazil;Australia;Germany;Netherlands;Norway
305EUCTR2015-001578-17-DE
(EUCTR)
12/09/201622/12/2015An Open-Label, Phase IV Study of Velaglucerase alfa on Bone Related Pathology in Adult, Treatment-Naïve Patients with Type 1 Gaucher DiseaseAn Open-label, Multicenter, Single-arm, Phase 4 Study of the Effect ofTreatment with Velaglucerase alfa on Bone-related Pathology inTreatment-naïve Patients with Type 1 Gaucher Disease Gaucher Disease
MedDRA version: 20.0;Level: PT;Classification code 10075697;Term: Gaucher's disease type I;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Trade Name: VPRIV 400 Units powder for solution of infusion
INN or Proposed INN: VELAGLUCERASE ALFA
Other descriptive name: Gene activated human glucocerebrosidase, velaglucerase alfa
Shire Human Genetic Therapies, Inc.NULLNot RecruitingFemale: yes
Male: yes
40Phase 4United States;Spain;Turkey;Israel;Germany;Italy;United Kingdom;India
306EUCTR2016-000378-38-GB
(EUCTR)
07/09/201608/07/2016Safety and effectiveness study comparing PRX-102 and Agalsidase Beta on Kidney function for patients with Fabry Disease who have previously been treated with Agalsidase BetaA Randomized, Double blind, Active Control Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta Fabry disease (a-galactosidase A deficiency)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: Pegunigalsidase alpha
Trade Name: Fabrazyme
Product Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Other descriptive name: N/A
Trade Name: Fabrazyme
Product Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Other descriptive name: N/A
Protalix Ltd.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
78Phase 3United States;Slovenia;Paraguay;Spain;Turkey;United Kingdom;Czech Republic;Hungary;Canada;Argentina;Belgium;Brazil;Australia;Norway;Netherlands;Germany
307EUCTR2016-000378-38-ES
(EUCTR)
22/08/201615/07/2016Safety and effectiveness study comparing PRX-102 and Agalsidase Beta on Kidney function for patients with Fabry Disease who have previously been treated with Agalsidase BetaA Randomized, Double blind, Active Control Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta Fabry disease (a-galactosidase A deficiency)
MedDRA version: 19.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: Pegunigalsidase alpha
Trade Name: Fabrazyme
Product Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Other descriptive name: N/A
Trade Name: Fabrazyme
Product Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Other descriptive name: N/A
Protalix Ltd.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
78Phase 3United States;Paraguay;Spain;Turkey;United Kingdom;Czech Republic;Hungary;Canada;Belgium;Australia;Germany;Netherlands;Norway
308EUCTR2015-004438-93-ES
(EUCTR)
20/08/201615/07/2016A clinical study to investigate the study drug Arimoclomol in a double blind, randomised, placebo-controlled study in patients diagnosed with Niemann Pick disease type C.Arimoclomol prospective double blind, randomised, placebo-controlled study in patients diagnosed with Niemann Pick disease type C - Investigate study drug Arimoclomol with patients diagnosed with Niemann Pick disease type C. Niemann Pick disease type C
MedDRA version: 19.0;Level: PT;Classification code 10029403;Term: Niemann-Pick disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Arimoclomol
Product Code: _
INN or Proposed INN: Arimoclomol
Other descriptive name: _
Product Name: Arimoclomol
Product Code: _
INN or Proposed INN: Arimoclomol
Other descriptive name: _
Product Name: Arimoclomol
Product Code: _
INN or Proposed INN: Arimoclomol
Other descriptive name: _
Orphazyme ApSNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
46Phase 2;Phase 3United States;Spain;Denmark;Switzerland
309EUCTR2013-000051-40-IT
(EUCTR)
19/08/201625/05/2016A Long-Term Study of Recombinant Human Acid Sphingomyelinase in Patients With Acid Sphingomyelinase DeficiencyA Long-Term Study to Assess the Ongoing Safety and Efficacy of Recombinant Human Acid Sphingomyelinase in Patients With Acid Sphingomyelinase Deficiency Patients with acid sphingomyelinase deficiency (Niemann-Pick Type B disease)
MedDRA version: 19.0;Level: LLT;Classification code 10041515;Term: Sphingomyelin lipidosis;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Olipudase alfa (rhASM)
Product Code: GZ402665
INN or Proposed INN: Olipudase alfa
Other descriptive name: RECOMBINANT HUMAN ACID SPHINGOMYELINASE (rhASM)
Genzyme CorporationNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
17Phase 2France;United States;Brazil;Germany;United Kingdom;Italy
310EUCTR2015-000753-20-NL
(EUCTR)
16/08/201624/08/2015A Phase 1/2 open label study in MPS IIIB subjects to investigate the long term safety and effect of SBC-103 given by IV infusion.A PHASE I/II OPEN LABEL STUDY IN MPS IIIB SUBJECTS TO INVESTIGATE THE SAFETY, BIODISTRIBUTION, PHARMACOKINETICS, AND PHARMACODYNAMICS/EFFICACY OF SBC-103 ADMINISTERED INTRAVENOUSLY Mucopolysaccharidosis III, type B (MPS IIIB), Sanfilippo B
MedDRA version: 19.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 19.0;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Name: Recombinant Human Alpha-N-Acetylglucosaminidase (rhNAGLU)
Product Code: SBC-103
INN or Proposed INN: not available
Other descriptive name: rhNAGLU
Product Name: 89 Zirconium Recombinant Human Alpha-N-Acetylglucosaminidase (rhNAGLU) (radiolabeled)
Product Code: 89Zr-SBC-103
INN or Proposed INN: not available
Other descriptive name: rhNAGLU radiolabelled
Alexion Pharmaceuticals, Inc.NULLNot RecruitingFemale: yes
Male: yes
4Phase 2Netherlands
311EUCTR2015-003904-21-ES
(EUCTR)
01/08/201615/04/2016Gene transfer clinical trial for Mucopolysaccharidosis IIIAPhase I/II gene transfer clinical trial of scAAV9.U1a.hSGSH for Mucopolysaccharidosis (MPS) IIIA MPS IIIA is a devastating lysosomal storage disease, caused by a N-sulfoglucosamine sulfohydrolase gene defect. Infants with MPS IIIA appear normal at birth, but the disease is relentlessly progressive, with deterioration of social and adaptive abilities, neurocognitive decline, and premature death. Death typically occurs by end of the second or beginning of the third decade. Quite importantly, there is no treatment currently available for the disease.;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]Product Name: scAAV9.U1A.SGSH
Product Code: scAAV9.U1A.SGSH
INN or Proposed INN: scAAV9.U1A.SGSH
Other descriptive name: scAAV9.U1A.SGSH
Abeona Therapeutics IncNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
18Phase 1;Phase 2United States;Spain;Australia
312JPRN-JMA-IIA00350
29/07/201604/06/2018Phase I/II clinical trial of idursulfase beta for mucopolysaccharidosis type IIPhase I/II clinical trial of idursulfase beta for mucopolysaccharidosis type II Patients at the age between 6 months and 15 years with severe type mucopolysaccharidosis type II intravenously administered isursulfase at least for 24 weeksIntervention type:DRUG. Intervention1:BHP001, Dose form:INJECTION, Route of administration:OTHER.Torayuki OkuyamaHaruo ShintakuCompleted>=6 MONTHS<15 YEARSMale6Phase 1-2Japan
313EUCTR2015-004846-25-BE
(EUCTR)
15/07/201630/03/2016Anti-oxLDL IgM antibodies as a novel therapy for metabolic lipid diseasesImmunization against oxLDL in patients with lysosomal lipid diseases and associated metabolic disorders Familial hypercholesterolemia Niemann-Pick disease type B (NPB)Niemann-Pick disease type C (NPC)Partial lipodystrophy in children and adults;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03]Trade Name: Prevenar13
Product Name: Prevenar13
Maastricht UniversityNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
Phase 4Belgium
314NCT02800070
(ClinicalTrials.gov)
July 201615/4/2016Autologous Stem Cell Transplantation of Cells Engineered to Express Alpha-Galactosidase A in Patients With Fabry DiseaseClinical Pilot Study of Autologous Stem Cell Transplantation of Cluster of Differentiation 34 Positive (CD34+) Cells Engineered to Express Alpha-Galactosidase A in Patients With Fabry DiseaseFabry DiseaseBiological: Lentivirus Alpha-gal A transduced stem cellsUniversity Health Network, TorontoOzmosis Research Inc.Active, not recruiting18 Years50 YearsMale5Phase 1Canada
315NCT02574286
(ClinicalTrials.gov)
June 29, 20169/10/2015Study of the Effect of Velaglucerase Alfa (VPRIV®) on Bone-related Pathology in Treatment-naïve Participants With Type 1 Gaucher DiseaseAn Open-label, Multicenter, Single-arm, Phase 4 Study of the Effect of Treatment With Velaglucerase Alfa on Bone-related Pathology in Treatment-naïve Patients With Type 1 Gaucher DiseaseGaucher DiseaseDrug: Velaglucerase alfa;Dietary Supplement: Vitamin DShireNULLCompleted18 Years70 YearsAll21Phase 4United States;Israel;Spain;United Kingdom
316NCT02795676
(ClinicalTrials.gov)
June 20162/6/2016Study of the Safety and Efficacy of PRX-102 Compared to Agalsidase Beta on Renal FunctionA Randomized, Double Blind, Active Control Study of the Safety and Efficacy of PRX-102 Compared to Agalsidase Beta on Renal Function in Patients With Fabry Disease Previously Treated With Agalsidase BetaFabry DiseaseBiological: PRX-102 (pegunigalsidase alfa);Biological: agalsidase betaProtalixNULLCompleted18 Years60 YearsAll78Phase 3United States;Czechia;Finland;France;Hungary;Italy;Netherlands;Norway;Slovenia;Spain;Switzerland;United Kingdom;Argentina;Australia;Belgium;Brazil;Canada;Czech Republic;Germany;Paraguay;Turkey
317EUCTR2015-004438-93-GB
(EUCTR)
16/05/201624/10/2016A clinical study to investigate the study drug Arimoclomol in a double blind, randomised, placebo-controlled study in patients diagnosed with Niemann Pick disease type C.Arimoclomol prospective double blind, randomised, placebo-controlled study in patients diagnosed with Niemann Pick disease type C - Investigate study drug Arimoclomol with patients diagnosed with Niemann Pick disease type C. Niemann Pick disease type C
MedDRA version: 20.0;Level: PT;Classification code 10029403;Term: Niemann-Pick disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Arimoclomol
Product Code: _
INN or Proposed INN: Arimoclomol
Other descriptive name: ARIMOCLOMOL CITRATE
Product Name: Arimoclomol
Product Code: _
INN or Proposed INN: Arimoclomol
Other descriptive name: ARIMOCLOMOL CITRATE
Product Name: Arimoclomol
INN or Proposed INN: ARIMOCLOMOL
Other descriptive name: ARIMOCLOMOL CITRATE
Orphazyme A/SNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
57Phase 2;Phase 3United States;Spain;Poland;Denmark;Germany;Italy;Switzerland;United Kingdom
318EUCTR2015-004438-93-DK
(EUCTR)
09/05/201611/03/2016A clinical study to investigate the study drug Arimoclomol in a double blind, randomised, placebo-controlled study in patients diagnosed with Niemann Pick disease type C.Arimoclomol prospective double blind, randomised, placebo-controlled study in patients diagnosed with Niemann Pick disease type C - Investigate study drug Arimoclomol with patients diagnosed with Niemann Pick disease type C. Niemann Pick disease type C
MedDRA version: 20.0;Level: PT;Classification code 10029403;Term: Niemann-Pick disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Arimoclomol
Product Code: _
INN or Proposed INN: Arimoclomol citrate
Product Name: Arimoclomol
Product Code: _
INN or Proposed INN: Arimoclomol citrate
Product Name: Arimoclomol
Product Code: _
INN or Proposed INN: ARIMOCLOMOL
Orphazyme A/SNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
57Phase 2;Phase 3United States;Spain;Poland;Denmark;Germany;United Kingdom;Italy;Switzerland
319NCT02843334
(ClinicalTrials.gov)
May 201621/7/2016Study of the Prevalence of Fabry Disease in French Dialysis PatientsStudy of the Prevalence of Fabry Disease in French Dialysis PatientsFabry Disease;End Stage Renal Disease;Renal DialysisBiological: Dried blood spot (DBS) samplingHospices Civils de LyonNULLRecruiting18 Years70 YearsBoth6000N/AFrance
320EUCTR2015-000359-26-ES
(EUCTR)
29/04/201603/02/2016First study in patients to assess safety, tolerability and inittial efficacy of the new gene therapy product to treat MPSIIIA.Phase I/II safety, tolerability and initial efficacy study of adeno-associated viral vector serotype 9 containing human sulfamidase gene after intracerebroventricular administration to patients with MPSIIIA. Mucopolysaccharidosis type IIIA (Sanfilippo A syndrome) is an inherited lysosomal storage disease caused by a specific lysosomal enzyme deficiency that leads to intracellular accumulation of the GAG heparan sulphate (HS). It is caused by a deficiency of one of the four enzymes involved in the lysosomal degradation of HS. In the case of subtype A is the heparan N-sulfatase (SGSH).;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]Product Name: Vector viral adenoasociado de serotipo 9 que contiene el gen de la sulfamidasa humana
Product Code: AAV9-CAG-coh-SGSH
INN or Proposed INN: Vector viral adenoasociado de serotipo 9 que contiene el gen de la sulfamidasa humana
Other descriptive name: Vector viral adenoasociado de serotipo 9 que contiene el gen de la sulfamidasa humana
Laboratorios del Dr. Esteve, S.A.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
Phase 1;Phase 2Spain
321EUCTR2012-003775-20-GB
(EUCTR)
25/04/201606/06/2016A safety and efficacy extension of study HGT-MLD-070 in Children with Metachromatic Leukodystrophy recieving enzyme (HGT-1110) replacement by intrathecal injectionAn Open-label Extension of Study HGT-MLD-070 Evaluating Long Term Safety and Efficacy of Intrathecal Administration of HGT-1110 in Patients with Metachromatic Leukodystrophy Treatment of Metachromatic Leukodystrophy
MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Code: SHP611
INN or Proposed INN: Not available
Other descriptive name: Recombinant Human Arylsulfatase A (rhASA)
Shire Human Genetics Therapies IncNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
24Phase 1;Phase 2France;Czech Republic;Brazil;Denmark;Australia;Germany;Japan;Italy;United Kingdom
322EUCTR2015-001875-32-PT
(EUCTR)
18/04/201619/01/2016A long-term safety and efficacy study in MPS 7 patients receiving enzyme (UX003) replacement by intravenous injectionA Long-Term Open-Label Treatment and Extension Study of UX003 rhGUS Enzyme Replacement Therapy in Subjects with MPS 7 Mucopolysaccharidosis type 7 ( MPS 7, Sly syndrome);Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]Product Name: Recombinant human beta-glucuronidase (rhGUS)
Product Code: UX003
INN or Proposed INN: pending
Other descriptive name: RECOMBINANT HUMAN BETA GLUCURONIDASE; RHGUS
Ultragenyx Pharmaceutical Inc.NULLNot Recruiting Female: yes
Male: yes
12 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): noUnited States;Portugal;Mexico;Brazil
323EUCTR2013-003400-39-ES
(EUCTR)
14/04/201617/02/2016A Phase 1/2 open label study in MPS IIIB subjects to investigate the long-term safety and effect of SBC-103 given by IV infusion.A Phase I/II Open Label Study in MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously Mucopolysaccharidosis III, type B (MPS IIIB), Sanfilippo B
MedDRA version: 18.1;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 18.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Name: Recombinant Human Alpha-N-Acetylglucosaminidase (rhNAGLU)
Product Code: SBC-103
INN or Proposed INN: not available
Other descriptive name: rhNAGLU
Alexion Pharmaceuticals, Inc.NULLNot RecruitingFemale: yes
Male: yes
9Phase 1United States;Spain;United Kingdom
324EUCTR2014-004804-31-DE
(EUCTR)
12/04/201606/08/2015A long-term study on changes in height and weight of children with MPS II receiving Elaprase and who started the treatment before the age of 6 years.A Long-Term, Open-Label, Multicenter, Phase IV Study to Assess Longitudinal Changes on Height and Weight in Patients with MPS II Who Are Receiving Elaprase and Started Treatment With Elaprase at <6 Years of Age Hunter syndrome (Mucopolysaccharidosis II, [MPS II]);Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]Trade Name: Elaprase
INN or Proposed INN: IDURSULFASE
Shire Human Genetic Therapies, IncNULLAuthorised-recruitment may be ongoing or finishedFemale: no
Male: yes
20Phase 4United States;Serbia;Philippines;Saudi Arabia;Malaysia;Thailand;Costa Rica;Oman;Dominican Republic;Germany;Vietnam
325EUCTR2015-000104-26-ES
(EUCTR)
05/04/201603/02/2016A safety, tolerability and efficacy study in MPS 7 patients less than 5 years of age receiving enzyme (UX003) replacement by intravenous injectionAn Open-label Study of UX003 rhGUS Enzyme Replacement Therapy in MPS 7 Patients Less than 5 Years Old Mucopolysaccharidosis type 7 (MPS 7, Sly syndrome);Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]Product Name: Recombinant human beta-glucuronidase
Product Code: UX003
INN or Proposed INN: Not available
Other descriptive name: RECOMBINANT HUMAN BETA GLUCURONIDASE; RHGUS
Ultragenyx Pharmaceutical Inc.NULLNot Recruiting Female: yes
Male: yes
15 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noPortugal;United States;Spain
326NCT02754076
(ClinicalTrials.gov)
April 201627/2/2016A Treatment Study of Mucopolysaccharidosis Type IIIBA Phase 1/2 Open-Label Dose-Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Efficacy of Intracerebroventricular AX 250 in Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B)MPS III B;Mucopolysaccharidosis Type IIIBDrug: AX 250Allievex CorporationNULLCompleted1 Year10 YearsAll23Phase 1/Phase 2United States;Colombia;Germany;Spain;Taiwan;Turkey;United Kingdom
327EUCTR2015-001985-25-DE
(EUCTR)
22/03/201616/11/2015Phase 1/2 Study to Evaluate the Safety and Efficacy of AX 250 in Patients with MPS IIIBA Phase 1/2 Open-Label Dose-Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular AX 250 in Patients with Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) Mucopolysaccharidosis Type IIIB (Sanfilippo Syndrome Type B, MPS IIIB)
MedDRA version: 20.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: N/A
Product Code: AX 250
INN or Proposed INN: Not available
Other descriptive name: RHNAGLU-IGF2
Allievex CorporationNULLNot RecruitingFemale: yes
Male: yes
33Phase 1;Phase 2Taiwan;Spain;Turkey;Australia;Colombia;Germany;United Kingdom
328NCT02725580
(ClinicalTrials.gov)
March 9, 201616/3/2016Gene Therapy For Children With Variant Late Infantile Neuronal Ceroid Lipofuscinosis 6 (vLINCL6) DiseasePhase I/IIa Gene Transfer Clinical Trial for Variant Late Infantile Neuronal Ceroid Lipofuscinosis, Delivering the CLN6 Gene by Self-Complementary AAV9Variant Late-Infantile Neuronal Ceroid LipofuscinosisGenetic: AT-GTX-501Amicus TherapeuticsNULLCompleted1 YearN/AAll13Phase 1/Phase 2United States
329EUCTR2015-000371-26-IT
(EUCTR)
08/03/201606/02/2018Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients with Acid Sphingomyelinase DeficiencyA phase 2/3, multicenter, randomized, double-blinded, placebo-controlled, repeatdose, dose-comparison study to evaluate the efficacy, safety, pharmacodynamics, and pharmacokinetics of olipudase alfa in patients with acid sphingomyelinase deficiency - ASCEND Patients with acid sphingomyelinase deficiency (Niemann-Pick Type B disease)
MedDRA version: 20.1;Level: LLT;Classification code 10041515;Term: Sphingomyelin lipidosis;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: OLIPUDASE ALFA
Product Code: GZ402665
INN or Proposed INN: OLIPUDASE ALFA
GENZYME CORPORATIONNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
35Phase 2;Phase 3Portugal;United States;Spain;Turkey;Chile;Israel;Italy;United Kingdom;France;Argentina;Brazil;Australia;Netherlands;Tunisia;Germany;Japan
330EUCTR2015-001985-25-ES
(EUCTR)
02/03/201613/01/2016Phase 1/2 Study to Evaluate the Safety and Efficacy of BMN 250 in Patients with MPS IIIBA Phase 1/2 Open-Label Dose-Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 250 in Patients with Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) Mucopolysaccharidosis Type IIIB (Sanfilippo Syndrome Type B, MPS IIIB)
MedDRA version: 18.1;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 18.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: N/A
Product Code: BMN 250
INN or Proposed INN: Not available
Other descriptive name: RHNAGLU-IGF2
BioMarin Pharmaceutical Inc.NULLNot RecruitingFemale: yes
Male: yes
33Phase 1;Phase 2Taiwan;Brazil;Spain;Turkey;Australia;Germany;Colombia;United Kingdom
331NCT02859363
(ClinicalTrials.gov)
March 20164/8/2016Fabry Disease in Cerebrovascular DiseaseImproving the Diagnostic Rate of Fabry Disease in Patients With Cerebrovascular Involvement in Taiwan- a Cohort Screening ProgramFabry DiseaseGenetic: 26 common Fabry mutation types in TaiwanChang Gung Memorial HospitalSanofiRecruiting18 Years55 YearsBoth700N/ATaiwan
332NCT02716246
(ClinicalTrials.gov)
March 201617/3/2016Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSHPhase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH for Mucopolysaccharidosis (MPS) IIIAMPS IIIA;Sanfilippo Syndrome;Sanfilippo A;Mucopolysaccharidosis IIIBiological: ABO-102Ultragenyx Pharmaceutical IncAbeona Therapeutics, IncActive, not recruitingN/AN/AAll28Phase 1/Phase 2United States;Australia;Spain;France;Germany
333EUCTR2015-001578-17-ES
(EUCTR)
25/02/201613/01/2016An Open-Label, Phase IV Study of Velaglucerase alfa on Bone Related Pathology in Adult, Treatment-Naïve Patients with Type 1 Gaucher DiseaseAn Open-label, Multicenter, Single-arm, Phase 4 Study of the Effect of Treatment with Velaglucerase alfa on Bone-related Pathology in Treatment-naïve Patients with Type 1 Gaucher Disease Gaucher Disease
MedDRA version: 18.1;Level: PT;Classification code 10075697;Term: Gaucher's disease type I;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Trade Name: VPRIV 400 Units powder for solution of infusion
INN or Proposed INN: VELAGLUCERASE ALFA
Other descriptive name: Gene activated human glucocerebrosidase, velaglucerase alfa
Shire Human Genetic Therapies, Inc.NULLNot RecruitingFemale: yes
Male: yes
40Phase 4United States;Canada;Spain;Israel;Germany;United Kingdom;Italy
334EUCTR2015-001578-17-GB
(EUCTR)
17/02/201621/12/2015An Open-Label, Phase IV Study of Velaglucerase alfa on Bone Related Pathology in Adult, Treatment-Naïve Patients with Type 1 Gaucher DiseaseAn Open-label, Multicenter, Single-arm, Phase 4 Study of the Effect ofTreatment with Velaglucerase alfa on Bone-related Pathology inTreatment-naïve Patients with Type 1 Gaucher Disease Gaucher Disease
MedDRA version: 20.0;Level: PT;Classification code 10075697;Term: Gaucher's disease type I;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Trade Name: VPRIV 400 Units powder for solution of infusion
INN or Proposed INN: VELAGLUCERASE ALFA
Other descriptive name: Gene activated human glucocerebrosidase, velaglucerase alfa
Shire Human Genetic Therapies, Inc.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
19Phase 4United States;Canada;Spain;Israel;Germany;United Kingdom
335EUCTR2015-000371-26-PT
(EUCTR)
15/02/201608/09/2015Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients with Acid Sphingomyelinase DeficiencyA Phase 2/3, Multi-Center, Randomized, Double-Blind, Placebo-Controlled, Repeat Dose Study to Evaluate the Efficacy, Safety, Pharmacodynamics and Pharmacokinetics of olipudase alfa in Patients With Acid Sphingomyelinase Deficiency - ASCEND Patients with acid sphingomyelinase deficiency (Niemann-Pick Type B disease)
MedDRA version: 20.1;Level: LLT;Classification code 10041515;Term: Sphingomyelin lipidosis;System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Olipudase alfa
Product Code: GZ402665
INN or Proposed INN: Olipudase alfa
Other descriptive name: RECOMBINANT HUMAN ACID SPHINGOMYELINASE (rhASM)
Genzyme CorporationNULLNot Recruiting Female: yes
Male: yes
36 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): noPortugal;United States;Spain;Turkey;Chile;United Kingdom;Italy;France;Argentina;Brazil;Australia;Netherlands;Tunisia;Germany;Japan
336NCT02678689
(ClinicalTrials.gov)
February 201615/1/2016A Safety, Tolerability, and Efficacy Study of Intracerebroventricular BMN 190 in Pediatric Patients < 18 Years of Age With CLN2 DiseaseA Phase 2, Open-Label, Multicenter Study to Evaluate Safety, Tolerability, and Efficacy of Intracerebroventricular BMN 190 in Pediatric Patients < 18 Years of Age With CLN2 DiseaseJansky-Bielschowsky Disease;Batten Disease;Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2;CLN2 Disease;CLN2 DisorderBiological: BMN190 recombinant human tripeptidyl peptidase-1 (rhTPP1);Device: Intraventricular access deviceBioMarin PharmaceuticalNULLCompleted0 Years17 YearsAll14Phase 2United States;Germany;Italy;United Kingdom
337NCT02156674
(ClinicalTrials.gov)
January 26, 20163/6/2014Naglazyme After Allo Transplant for Maroteaux-Lamy SyndromeStudy of Administration of Intravenous Naglazyme® Following Allogeneic Transplantation for Maroteaux-Lamy SyndromeMaroteaux-Lamy SyndromeDrug: Naglazyme®Masonic Cancer Center, University of MinnesotaBioMarin PharmaceuticalActive, not recruiting3 YearsN/AAll1N/AUnited States
338EUCTR2015-000891-85-DE
(EUCTR)
19/01/201604/11/2015Phase 2 study to evaluate safety and efficacy of BMN 190 in patients with CLN2A Phase 2 Open-Label Study to Evaluate Safety, Tolerability, and Efficacy of Intracerebroventricular BMN 190 in Pediatric Patients < 18 years of age with CLN2 Disease Neuronal Ceroid Lipofuscinosis type 2 (CLN2) disease
MedDRA version: 20.0;Level: LLT;Classification code 10052074;Term: Neuronal ceroid lipofuscinosis NOS;System Organ Class: 100000157084;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Trade Name: Brineura
Product Name: cerliponase alfa
Product Code: BMN 190
INN or Proposed INN: cerliponase alfa
Other descriptive name: recombinant human tripeptidyl peptidase-1
BioMarin Pharmaceutical Inc.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
10Phase 2Germany;Italy;United Kingdom
339EUCTR2015-000371-26-NL
(EUCTR)
19/01/201620/07/2015Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients with Acid Sphingomyelinase DeficiencyA Phase 2/3, Multi-Center, Randomized, Double-Blind, Placebo-Controlled, Repeat Dose Study to Evaluate the Efficacy, Safety, Pharmacodynamics and Pharmacokinetics of olipudase alfa in Patients With Acid Sphingomyelinase Deficiency - ASCEND Patients with acid sphingomyelinase deficiency (Niemann-Pick Type B disease)
MedDRA version: 20.1;Level: LLT;Classification code 10041515;Term: Sphingomyelin lipidosis;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Olipudase alfa
Product Code: GZ402665
INN or Proposed INN: Olipudase alfa
Other descriptive name: RECOMBINANT HUMAN ACID SPHINGOMYELINASE (rhASM)
Genzyme CorporationNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
36Phase 2;Phase 3Portugal;United States;Spain;Turkey;Chile;United Kingdom;Italy;France;Argentina;Brazil;Australia;Bulgaria;Netherlands;Tunisia;Germany;Japan
340NCT04120506
(ClinicalTrials.gov)
January 10, 201610/8/2018Long Term Impact of Rapid Intravenous Infusion of Velaglucerase Alfa (VPRIV)Long Term Impact of Rapid Intravenous Infusion of Velaglucerase Alfa (VPRIV) in Adult Patients With Type 1 Gaucher Disease, Previously on a Stable Dose of VPRIV for at Least 3 Months: an Extension of the Investigator-initiated StudyGaucher Disease, Type 1Drug: VPRIVShaare Zedek Medical CenterShireCompleted6 Years75 YearsAll15Phase 4NULL
341NCT03596398
(ClinicalTrials.gov)
January 1, 201615/6/2018Epidemiological Study of Fabry Disease in Taiwan Young Stroke PatientsEpidemiological Study of Fabry Disease in Taiwan Young Stroke PatientsFabry DiseaseGenetic: GLA geneChiayi Christian HospitalSanofiEnrolling by invitation20 Years55 YearsAll1000NULL
342NCT02030015
(ClinicalTrials.gov)
December 22, 201517/12/2013Synergistic Enteral Regimen for Treatment of the GangliosidosesSynergistic Enteral Regimen for Treatment of the Gangliosidoses (Syner-G)GM1 Gangliosidoses;GM2 Gangliosidoses;Tay-Sachs Disease;Sandhoff DiseaseDrug: miglustat;Other: Ketogenic DietUniversity of MinnesotaRare Diseases Clinical Research Network;National Center for Advancing Translational Science (NCATS);National Institute of Neurological Disorders and Stroke (NINDS);National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK);Lysosomal Disease NetworkRecruitingN/A204 MonthsAll30Phase 4United States
343NCT02004691
(ClinicalTrials.gov)
December 18, 201526/11/2013Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase DeficiencyA Phase 2/3, Multicenter, Randomized, Double-blinded, Placebo-controlled, Repeat-dose Study to Evaluate the Efficacy, Safety, Pharmacodynamics, and Pharmacokinetics of Olipudase Alfa in Patients With Acid Sphingomyelinase DeficiencySphingomyelin LipidosisDrug: placebo (saline);Drug: GZ402665Genzyme, a Sanofi CompanyNULLActive, not recruiting18 YearsN/AAll36Phase 2/Phase 3United States;Argentina;Australia;Belgium;Brazil;Bulgaria;Chile;France;Germany;Italy;Japan;Netherlands;Portugal;Spain;Tunisia;Turkey;United Kingdom
344EUCTR2015-000371-26-ES
(EUCTR)
18/12/201505/10/2015Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients with Acid Sphingomyelinase DeficiencyA phase 2/3, multicenter, randomized, double-blinded, placebo-controlled, repeatdose, dose-comparison study to evaluate the efficacy, safety, pharmacodynamics, and pharmacokinetics of olipudase alfa in patients with acid sphingomyelinase deficiency - ASCEND Patients with acid sphingomyelinase deficiency (Niemann-Pick Type B disease)
MedDRA version: 18.0;Level: LLT;Classification code 10041515;Term: Sphingomyelin lipidosis;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Olipudase alfa
Product Code: GZ402665
INN or Proposed INN: Olipudase alfa
Other descriptive name: RECOMBINANT HUMAN ACID SPHINGOMYELINASE (rhASM)
Genzyme CorporationNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
35Phase 2/3Portugal;United States;Spain;Turkey;Chile;Israel;United Kingdom;Italy;France;Argentina;Brazil;Australia;Netherlands;Tunisia;Germany;Japan
345EUCTR2015-003031-35-GB
(EUCTR)
20/11/201527/10/2015Immune Tolerance Induction with Methotrexate in Hurler SyndromeA Single Centre Study Investigating the Safety and Efficacy of an Immune Modulation Regimen in Mitigating the Alloimmune Response to Intravenous Laronidase in Infants With Severe Mucopolysaccharidosis type I (Hurler syndrome) Prior to Haematopoietic Stem Cell Transplantation - Immune Tolerance Induction with Methotrexate in Hurler Syndrome Severe Mucopolysaccharidosis Type I (Hurler syndrome, MPS IH)
MedDRA version: 18.1;Level: LLT;Classification code 10028094;Term: Mucopolysaccharidosis IH;System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Methotrexate
INN or Proposed INN: Methotrexate
Central Manchester University Hospitals NHS Foundation TrustNULLNot Recruiting Female: yes
Male: yes
4 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): noUnited Kingdom
346NCT02432144
(ClinicalTrials.gov)
November 10, 201522/4/2015A Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Therapy in Subjects With Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7)A Long-Term Open-Label Treatment and Extension Study of UX003 rhGUS Enzyme Replacement Therapy in Subjects With MPS 7Sly Syndrome;MPS VII;Mucopolysaccharidosis;Mucopolysaccharidosis VIIDrug: UX003Ultragenyx Pharmaceutical IncNULLCompleted5 YearsN/AAll12Phase 3United States;Brazil;Mexico;Portugal
347EUCTR2015-001985-25-GB
(EUCTR)
06/11/201530/09/2015Phase 1/2 Study to Evaluate the Safety and Efficacy of AX 250 in Patients with MPS IIIBA Phase 1/2 Open-Label Dose-Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular AX 250 in Patients with Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) Mucopolysaccharidosis Type IIIB (Sanfilippo Syndrome Type B, MPS IIIB)
MedDRA version: 20.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: N/A
Product Code: AX 250
INN or Proposed INN: Not available
Other descriptive name: RHNAGLU-IGF2
Allievex CorporationNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
33Phase 1;Phase 2Taiwan;Spain;Turkey;Australia;Germany;Colombia;United Kingdom
348NCT02597114
(ClinicalTrials.gov)
November 20153/11/2015Extension Study of AGT-181-102 to Evaluate Long Term Safety and Activity of AGT-181An Extension Study of AGT-181-102 Evaluating Safety and Glycosaminoglycans (GAGs) in Adult Patients With Hurler-Scheie or Scheie Syndrome Who Have Completed 8-Weeks of Dosing With AGT-181 in Study AGT-181-102Mucopolysaccharidosis IDrug: AGT-181ArmaGen, IncNULLCompleted18 YearsN/AAll3Phase 1NULL
349NCT02455622
(ClinicalTrials.gov)
October 28, 201520/5/2015Long-term Evaluation on Height and Weight in Patients With MPS II Who Started Treatment at < 6 Years of AgeA Long-Term, Open-Label, Multicenter, Phase IV Study to Assess Longitudinal Changes on Height and Weight in Patients With MPS II Who Are Receiving Elaprase and Started Treatment With Elaprase at <6 Years of AgeHunter SyndromeDrug: Elaprase for intravenous (IV) infusionTakedaTakeda Development Center Americas, Inc.Active, not recruitingN/A6 YearsMale21Phase 4United States;Dominican Republic;Germany;Malaysia;Philippines;Serbia;Thailand;Vietnam;Oman;Saudi Arabia
350NCT02412787
(ClinicalTrials.gov)
October 28, 20151/4/2015Study of Long Term Safety and Clinical Outcomes of Idursulfase IT and Elaprase Treatment in Pediatric Participants Who Have Completed Study HGT-HIT-094An Open Label Extension of Study HGT-HIT-094 Evaluating Long Term Safety and Clinical Outcomes of Intrathecal Idursulfase Administered in Conjunction With Elaprase® in Patients With Hunter Syndrome and Cognitive ImpairmentHunter SyndromeDrug: Idursulfase-IT;Drug: ElapraseShireNULLActive, not recruitingN/A18 YearsMale49Phase 2/Phase 3United States;Australia;Canada;France;Mexico;Spain;United Kingdom;Argentina;Colombia
351EUCTR2015-000371-26-GB
(EUCTR)
27/10/201502/06/2015Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients with Acid Sphingomyelinase DeficiencyA phase 2/3, multicenter, randomized, double-blinded, placebo-controlled, repeat dose study to evaluate the efficacy, safety, pharmacodynamics, and pharmacokinetics of olipudase alfa in patients with acid sphingomyelinase deficiency - ASCEND Patients with acid sphingomyelinase deficiency (Niemann-Pick Type B disease)
MedDRA version: 20.1;Level: LLT;Classification code 10041515;Term: Sphingomyelin lipidosis;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Olipudase alfa
Product Code: GZ402665
INN or Proposed INN: Olipudase alfa
Other descriptive name: RECOMBINANT HUMAN ACID SPHINGOMYELINASE (rhASM)
Genzyme CorporationNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
36Phase 2;Phase 3United States;Portugal;Spain;Turkey;Chile;United Kingdom;Italy;France;Argentina;Brazil;Australia;Bulgaria;Tunisia;Germany;Netherlands;Japan
352EUCTR2014-005194-37-DE
(EUCTR)
19/10/201528/04/2015A non-therapeutic study in patients with Niemann-Pick disease type C in order to characterise the individual patient disease profile and historic signo-symptomatology progression patternA prospective non-therapeutic study in patients diagnosed with Niemann-Pick disease type C in order to characterise the individual patient disease profile and historic signo-symptomatology progression pattern - Characterisation of Niemann-Pick disease type C Niemann-Pick disease - type C
MedDRA version: 18.0;Level: PT;Classification code 10029403;Term: Niemann-Pick disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Trade Name: MIglustat
Product Name: Zavesca
Product Code: A16AX06
INN or Proposed INN: MIGLUSTAT
Orphazyme ApSNULLNot RecruitingFemale: yes
Male: yes
40Phase 1Spain;Germany;Switzerland
353NCT02618512
(ClinicalTrials.gov)
October 15, 201521/10/2015A Open Label Study in Previously Studied, SBC-103 Treatment Naïve MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered IntravenouslyA Phase I/II Open Label Study in Previously Studied, SBC-103 Treatment Naïve MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered IntravenouslyMucopolysaccharidosis III, Type B (MPS IIIB);Sanfilippo BDrug: SBC-103Alexion PharmaceuticalsNULLTerminated5 YearsN/AAll3Phase 1/Phase 2United Kingdom
354EUCTR2014-004995-49-GB
(EUCTR)
14/10/201508/05/2015Evaluation of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-Naïve Adult Male Patients with Fabry DiseaseAn Open-label, Multicenter, Multinational Extension Study of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Adult Male Patients Diagnosed with Fabry Disease Fabry disease
MedDRA version: 18.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Hormonal diseases [C19]
Product Code: SAR402671, GZ402671 or GZ/SAR402671
Other descriptive name: Genz-682452-AU
Product Code: SAR402671, GZ402671 or GZ/SAR402671
Other descriptive name: Genz-682452-AU
Genzyme CorporationNULLNot RecruitingFemale: no
Male: yes
8Phase 2France;United States;Czech Republic;Poland;Russian Federation;United Kingdom
355EUCTR2015-003105-41-GB
(EUCTR)
13/10/201508/09/2015Treatment for Nonsense Mutation Mucopolysaccharidosis Type ICNS Unmet Medical Need in Mucopolysaccharidosis: A Phase 2 Safety and Pharmacokinetics Study of Ataluren (COMPASS) - COMPASS Nonsense mutation Mucopolysaccharidosis Type I
MedDRA version: 18.1;Level: PT;Classification code 10056886;Term: Mucopolysaccharidosis I;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: ataluren
Product Code: PTC124
INN or Proposed INN: ATALUREN
Product Name: ataluren
Product Code: PTC124
INN or Proposed INN: ATALUREN
Product Name: ataluren
Product Code: PTC124
INN or Proposed INN: ATALUREN
PTC Therapeutics Inc.NULLNot Recruiting Female: yes
Male: yes
5 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noUnited Kingdom
356EUCTR2014-003198-40-DE
(EUCTR)
06/10/201507/08/2015Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of rhASM in Pediatric Patients <18 Years of Age with Acid Sphingomyelinase DeficiencyA Phase 1/2, Multi-Center, Open-Label, Ascending Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Exploratory Efficacy of Recombinant Human Acid Sphingomyelinase in Pediatric Patients Aged <18 Years With Acid Sphingomyelinase DeficiencyRevised title further to the protocol amendment 1A phase 1/2, multi-center, open-label, ascending dose study to evaluate the safety, tolerability, pharmacokinetics, pharmacodynamics and exploratory efficacy of olipudase afa in pediatric patients aged <18 years with acid sphingomyelinase deficiency Patients with acid sphingomyelinase deficiency (Niemann-Pick disease)
MedDRA version: 20.1;Level: LLT;Classification code 10041515;Term: Sphingomyelin lipidosis;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Olipudase alfa (rhASM)
Product Code: GZ402665
INN or Proposed INN: Olipudase alfa
Other descriptive name: RECOMBINANT HUMAN ACID SPHINGOMYELINASE (rhASM)
Genzyme CorporationNULLNot RecruitingFemale: yes
Male: yes
20Phase 2United States;France;Brazil;Germany;United Kingdom;Italy
357NCT03053089
(ClinicalTrials.gov)
October 20159/2/2017Safety and Dose Ranging Study of Human Insulin Receptor MAb-IDUA Fusion Protein in Adults and Children With MPS IA Two-Stage, Phase 1/2, Open-Label Study of the Human Insulin Receptor Monoclonal Antibody-Human Alpha-L-iduronidase (HIRMAb-IDUA) Fusion Protein, AGT-181 in Patients With Mucopolysaccharidosis I (MPS I, Hurler Syndrome)Mucopolysaccharidosis IDrug: AGT-181ArmaGen, IncNULLCompleted2 YearsN/AAll21Phase 1/Phase 2Brazil
358EUCTR2014-005544-18-GB
(EUCTR)
16/09/201517/08/2015An Extension of the PB-102-F02 study with PRX-102 in adult patients with Fabry Disease.A Multi Center Extension Study of PRX-102 Administered by Intravenous Infusions Every 2 Weeks for 24 Months to Adult Fabry Patients. - PB102F03: Extension Study of PRX-102 in Fabry Disease Fabry disease
MedDRA version: 18.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: PRX-102
Product Code: PRX-102
INN or Proposed INN: PRX-102
Protalix Ltd.NULLNot RecruitingFemale: yes
Male: yes
16Phase 1;Phase 2United States;Paraguay;Spain;United Kingdom
359EUCTR2014-003960-20-IT
(EUCTR)
16/09/201505/11/2020An Extension Study to Evaluate the Safety and Efficacy of HGT-1410 Administration in Pediatric Patients with Sanfilippo Syndrome Type AAn Open-Label Extension of Study HGT-SAN-093 Evaluating the Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration via an Intrathecal Drug Delivery Device in Pediatric Patients with Mucopolysaccharidosis Type IIIA Disease - NA Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 20.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Recombinant human heparan Nsulfatase (rhHNS)
Product Code: [HGT-1410]
INN or Proposed INN: NA
Other descriptive name: Recombinant human heparan N-sulfatase
SHIRE HUMAN GENETIC THERAPIES, INCNULLNot RecruitingFemale: yes
Male: yes
17Phase 2United States;France;Spain;Netherlands;Germany;United Kingdom;Italy
360NCT02583672
(ClinicalTrials.gov)
September 201521/8/2015Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1)Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1): Potential Use of Antioxidant/Anti-inflammatory MedicationsGaucher Disease Type 1Drug: N-acetylcysteineUniversity of MinnesotaRare Diseases Clinical Research Network;National Center for Advancing Translational Sciences (NCATS);National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK);National Institute of Neurological Disorders and Stroke (NINDS);Lysosomal Disease NetworkRecruiting18 YearsN/AAll50Phase 2United States
361NCT02536911
(ClinicalTrials.gov)
September 201528/8/2015A Study of the Effects of Hepatic Impairment on the Pharmacokinetics and Tolerability of Eliglustat TartrateAn Open-label Pharmacokinetic and Tolerability Study of Eliglustat Tartrate Given as a Single Dose in Subjects With Mild and Moderate Hepatic Impairment, and in Matched Subjects With Normal Hepatic FunctionGaucher DiseaseDrug: eliglustatGenzyme, a Sanofi CompanyNULLCompleted18 Years79 YearsAll24Phase 1United States
362NCT02536937
(ClinicalTrials.gov)
September 201528/8/2015A Study of the Effects of Renal Impairment on the Pharmacokinetics and Tolerability of Eliglustat TartrateAn Open-label Two-stage Pharmacokinetic and Tolerability Study of Eliglustat Tartrate Given as a Single Dose in Subjects With Mild, Moderate and Severe Renal Impairment, and in Matched Subjects With Normal Renal FunctionGaucher DiseaseDrug: eliglustatSanofiNULLCompleted18 Years79 YearsAll32Phase 1United States
363EUCTR2014-003960-20-NL
(EUCTR)
18/08/201505/03/2015An Extension Study to Evaluate the Safety and Efficacy of HGT-1410 Administration in Pediatric Patients with Sanfilippo Syndrome Type AAn Open-Label Extension of Study HGT-SAN-093 Evaluating theSafety and Efficacy Study of HGT-1410 (Recombinant HumanHeparan N Sulfatase) Administration via an Intrathecal DrugDelivery Device in Pediatric Patients with MucopolysaccharidosisType IIIA Disease Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 20.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Recombinant human heparan N-sulfatase (rhHNS)
Product Code: HGT-1410
INN or Proposed INN: Not available
Other descriptive name: Recombinant human heparan N-sulfatase
Shire Human Genetic Therapies, Inc.NULLNot RecruitingFemale: yes
Male: yes
17Phase 2United States;France;Spain;Germany;Netherlands;United Kingdom;Italy
364EUCTR2015-000371-26-DE
(EUCTR)
14/08/201502/06/2015Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients with Acid Sphingomyelinase DeficiencyA Phase 2/3, Multi-Center, Randomized, Double-Blind, Placebo-Controlled,Repeat Dose Study to Evaluate the Efficacy, Safety, Pharmacodynamics andPharmacokinetics of olipudase alfa in Patients With Acid SphingomyelinaseDeficiency - ASCEND Patients with acid sphingomyelinase deficiency (Niemann-Pick Type B disease)
MedDRA version: 20.1;Level: LLT;Classification code 10041515;Term: Sphingomyelin lipidosis;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Olipudase alfa
Product Code: GZ402665
INN or Proposed INN: Olipudase alfa
Other descriptive name: RECOMBINANT HUMAN ACID SPHINGOMYELINASE (rhASM)
Genzyme CorporationNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
36Phase 2;Phase 3United States;Portugal;Spain;Turkey;Chile;United Kingdom;Italy;France;Argentina;Brazil;Australia;Bulgaria;Germany;Tunisia;Netherlands;Japan
365EUCTR2014-003960-20-GB
(EUCTR)
10/08/201501/04/2015An Extension Study to Evaluate the Safety and Efficacy of HGT-1410 Administration in Pediatric Patients with Sanfilippo Syndrome Type A An Open-Label Extension of Study HGT-SAN-093 Evaluating the Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration via an Intrathecal Drug Delivery Device in Pediatric Patients with Mucopolysaccharidosis Type IIIA Disease Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 19.1;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 19.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Recombinant human heparan N-sulfatase (rhHNS)
Product Code: HGT-1410
INN or Proposed INN: Not available
Other descriptive name: Recombinant human heparan N-sulfatase
Shire Human Genetic Therapies, Inc.NULLNot Recruiting Female: yes
Male: yes
17 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noFrance;United States;Spain;Netherlands;Germany;Italy;United Kingdom
366EUCTR2015-001983-20-GB
(EUCTR)
06/08/201502/06/2015A Phase 1/2 open label study in MPS IIIB subjects to investigate the long term safety and effect of SBC-103 given by IV infusion.A Phase I/II Open Label Study in Previously Studied, SBC-103 Treatment Naïve MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously Mucopolysaccharidosis III, type B (MPS IIIB), Sanfilippo B
MedDRA version: 19.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 19.0;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Name: Recombinant Human Alpha-N-Acetylglucosaminidase (rhNAGLU)
Product Code: SBC-103
INN or Proposed INN: not available
Other descriptive name: rhNAGLU
Alexion Pharmaceuticals, IncNULLNot Recruiting Female: yes
Male: yes
5 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noUnited Kingdom
367NCT02376751
(ClinicalTrials.gov)
August 201525/2/2015An Expanded Access Protocol for Sebelipase Alfa for Patients With Lysosomal Acid Lipase DeficiencyAN EXPANDED ACCESS PROTOCOL FOR SEBELIPASE ALFA FOR PATIENTS WITH LYSOSOMAL ACID LIPASE DEFICIENCYLysosomal Acid Lipase DeficiencyDrug: sebelipase alfaAlexion PharmaceuticalsNULLNo longer available8 MonthsN/ABothN/ANULL
368EUCTR2014-004995-49-PL
(EUCTR)
28/07/201515/06/2015Evaluation of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-Naïve Adult Male Patients with Fabry DiseaseAn Open-label, Multicenter, Multinational Extension Study of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Adult Male Patients Diagnosed with Fabry Disease Fabry disease
MedDRA version: 18.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Hormonal diseases [C19]
Product Code: SAR402671, GZ402671 or GZ/SAR402671
Other descriptive name: Genz-682452-AU
Product Code: SAR402671, GZ402671 or GZ/SAR402671
Other descriptive name: Genz-682452-AU
Genzyme CorporationNULLNot Recruiting Female: no
Male: yes
8 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noFrance;United States;Czech Republic;Poland;Russian Federation;United Kingdom
369NCT02418455
(ClinicalTrials.gov)
July 21, 201512/4/2015Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Treatment in Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7) Patients Less Than 5 Years of AgeAn Open-label Study of UX003 rhGUS Enzyme Replacement Therapy in MPS 7 Patients Less Than 5 Years OldSly Syndrome;MPS VII;Mucopolysaccharidosis;Mucopolysaccharidosis VIIDrug: UX003Ultragenyx Pharmaceutical IncNULLCompletedN/A5 YearsAll8Phase 2United States;Portugal;Spain
370EUCTR2014-005194-37-ES
(EUCTR)
13/07/201508/05/2015A non-therapeutic study in patients with Niemann-Pick disease type C in order to characterise the individual patient disease profile and historic signo-symptomatology progression patternA prospective non-therapeutic study in patients diagnosed with Niemann-Pick disease type C in order to characterise the individual patient disease profile and historic signo-symptomatology progression pattern - Characterisation of Niemann-Pick disease type C Niemann-Pick disease - type C
MedDRA version: 18.0;Level: PT;Classification code 10029403;Term: Niemann-Pick disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Trade Name: MIglustat
Product Name: Zavesca
Product Code: A16AX06
INN or Proposed INN: MIGLUSTAT
Orphazyme ApSNULLNot RecruitingFemale: yes
Male: yes
40Phase 1Spain;Germany;Switzerland
371NCT02489344
(ClinicalTrials.gov)
July 7, 201530/6/2015Evaluation of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-Naïve Adult Male Patients With Fabry DiseaseAn Open-label, Multicenter, Multinational Extension Study of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Adult Male Patients Diagnosed With Fabry DiseaseFabry DiseaseDrug: GZ/SAR402671Genzyme, a Sanofi CompanyNULLCompleted18 YearsN/AMale8Phase 2United States;France;Poland;Russian Federation;United Kingdom
372NCT02528617
(ClinicalTrials.gov)
July 201528/7/2015The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher DiseaseThe Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher DiseaseGaucher Disease Type 1;Gaucher Disease Type 3Drug: Velaglucerase alfaBaylor Research InstituteTexas Scottish Rite Hospital for ChildrenWithdrawn4 Years14 YearsAll0Phase 4United States
373NCT02520934
(ClinicalTrials.gov)
July 20156/8/2015Miglustat on Gaucher Disease Type IIIBEvaluation of Combination Therapy With Miglustat and Enzyme Replacement Therapy on Gaucher Disease Type IIIBGaucher DiseaseDrug: Miglustat;Drug: ERTNational Taiwan University HospitalActelionActive, not recruiting6 YearsN/AAll19N/ATaiwan
374NCT02371226
(ClinicalTrials.gov)
July 201519/2/2015Safety and Dose Ranging Study of Insulin Receptor MAb-IDUA Fusion Protein in Patients With MPS IA Phase 1 Safety and Dose-Finding Study of a Human Insulin Receptor Monoclonal Antibody-Human Alpha-L-iduronidase (HIRMAb-IDUA) Fusion Protein, AGT-181 in Adult Patients With Mucopolysaccharidosis I (MPS I, Hurler Syndrome)Mucopolysaccharidosis IDrug: AGT-181 (HIRMAb-IDUA)ArmaGen, IncNULLCompleted18 YearsN/AAll3Phase 1United States
375EUCTR2014-000533-22-FI
(EUCTR)
23/06/201505/06/2015Study of sebelipase alfa in young children with Lysosomal Acid Lipase Deficiency (LALD). A Phase 2, Open Label, Multicenter Study to Evaluate the Safety, Tolerability, Efficacy, and Pharmacokinetics of Sebelipase Alfa in Infants with Rapidly Progressive Lysosomal Acid Lipase Deficiency Lysosomal Acid Lipase Deficiency (LALD)
MedDRA version: 19.1;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Sebelipase Alfa
Product Code: SBC-102
INN or Proposed INN: sebelipase alfa
Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Alexion Pharmaceuticals IncNULLNot RecruitingFemale: yes
Male: yes
10Phase 2United States;Finland;Italy;United Kingdom
376EUCTR2014-003960-20-DE
(EUCTR)
15/06/201526/01/2015An Extension Study to Evaluate the Safety and Efficacy of HGT-1410 Administration in Pediatric Patients with Sanfilippo Syndrome Type AAn Open-Label Extension of Study HGT-SAN-093 Evaluating theSafety and Efficacy Study of HGT-1410 (Recombinant HumanHeparan N Sulfatase) Administration via an Intrathecal DrugDelivery Device in Pediatric Patients with MucopolysaccharidosisType IIIA Disease Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 20.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Recombinant human heparan N-sulfatase (rhHNS)
Product Code: HGT-1410
INN or Proposed INN: Not available
Other descriptive name: Recombinant human heparan N-sulfatase
Shire Human Genetic Therapies, Inc.NULLNot RecruitingFemale: yes
Male: yes
17Phase 2France;United States;Spain;Netherlands;Germany;Italy;United Kingdom
377EUCTR2014-004995-49-FR
(EUCTR)
11/06/201525/06/2015Evaluation of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-Naïve Adult Male Patients with Fabry DiseaseAn Open-label, Multicenter, Multinational Extension Study of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Adult Male Patients Diagnosed with Fabry Disease Fabry disease
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Hormonal diseases [C19]
Product Code: SAR402671, GZ402671 or GZ/SAR402671
Other descriptive name: Genz-682452-AU
Product Code: SAR402671, GZ402671 or GZ/SAR402671
Other descriptive name: Genz-682452-AU
Genzyme CorporationNULLNot Recruiting Female: no
Male: yes
8 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noUnited States;France;Czech Republic;Poland;Russian Federation;United Kingdom
378EUCTR2011-004287-30-NL
(EUCTR)
29/05/201501/04/2015Study of sebelipase alfa in a broad population of patients with Lysosomal Acid Lipase Deficiency (LALD). A Multicenter, Open-Label Study of Sebelipase Alfa in Patients with Lysosomal Acid Lipase Deficiency Lysosomal Acid Lipase Deficiency (LALD)
MedDRA version: 19.1;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Sebelipase Alfa
Product Code: SBC-102
INN or Proposed INN: sebelipase alfa
Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Alexion Pharmaceuticals IncNULLNot RecruitingFemale: yes
Male: yes
30Phase 2United States;Spain;Turkey;Russian Federation;United Kingdom;Italy;Mexico;Canada;Belgium;Brazil;Croatia;Australia;Denmark;Netherlands;Germany
379EUCTR2014-002701-38-DK
(EUCTR)
15/05/201520/01/2015A Study Using Migalastat Hydrochloride to See the Long Term Safety and Effectiveness of the Drug in Patients with Fabry DiseaseAn Open-Label, Extension Study to Evaluate the Long Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in subjects with Fabry Disease Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the gene (GLA) that encodes the lysosomal enzyme a-galactosidase A.
MedDRA version: 19.1;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03]
Product Name: Migalastat hydrochloride
Product Code: AT1001
INN or Proposed INN: migalastat
Other descriptive name: MIGALASTAT HYDROCHLORIDE
Product Name: Inactive Reminder Capsules
Product Code: Inactive Reminder Capsules
INN or Proposed INN: NA
Other descriptive name: Inactive Reminder Capsules
Amicus Therapeutics, Inc.NULLNot RecruitingFemale: yes
Male: yes
100Phase 3United States;Spain;Turkey;Austria;United Kingdom;Italy;Egypt;France;Canada;Argentina;Belgium;Brazil;Denmark;Australia;Japan
380EUCTR2014-003480-37-IT
(EUCTR)
06/05/201507/01/2015An Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients with CLN2 DiseaseA Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients with CLN2 Disease Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2).
MedDRA version: 17.1;Level: LLT;Classification code 10052074;Term: Neuronal ceroid lipofuscinosis NOS;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Code: BMN 190
INN or Proposed INN: TBD
Other descriptive name: RECOMBINANT HUMAN TRIPEPTIDYL PEPTIDASE-1 (RHTPP1)
BioMarin Pharmaceutical Inc.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
22United States;Germany;United Kingdom;Japan;Italy
381NCT02292654
(ClinicalTrials.gov)
May 1, 20157/11/2014Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of Olipudase Alfa in Pediatric Patients <18 Years of Age With Acid Sphingomyelinase DeficiencyA Phase 1/2, Multi-Center, Open-Label, Ascending Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Exploratory Efficacy of Olipudase Alfa in Pediatric Patients Aged <18 Years With Acid Sphingomyelinase DeficiencySphingomyelin LipidosisDrug: Olipudase alfaGenzyme, a Sanofi CompanyNULLCompletedN/A17 YearsAll20Phase 1/Phase 2United States;Brazil;France;Germany;Italy;United Kingdom
382NCT02437253
(ClinicalTrials.gov)
May 20155/5/2015Effects of Adalimumab in Mucopolysaccharidosis Types I, II and VIPilot Study of the Effect of Adalimumab on Physical Function and Musculoskeletal Disease in Mucopolysaccharidosis Types I, II and VIMucopolysaccharidosis Type I;Mucopolysaccharidosis Type II;Mucopolysaccharidosis Type VIDrug: Adalimumab;Other: PlaceboLos Angeles Biomedical Research InstituteNULLCompleted5 YearsN/AAll2Phase 1/Phase 2United States
383EUCTR2014-005544-18-ES
(EUCTR)
29/04/201516/02/2015Study of PRX-102 Administered by Intravenous Infusions Every 2 Weeks for 24 Months to Adult Fabry PatientsA Multi Center Extension Study of PRX-102 Administered by Intravenous Infusions Every 2 Weeks for 24 Months to Adult Fabry Patients Fabry disease
MedDRA version: 18.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: PRX102
Product Code: PRX102
INN or Proposed INN: PRX102
Product Name: PRX102
Product Code: PRX102
INN or Proposed INN: PRX102
Product Name: PRX102
Product Code: PRX102
INN or Proposed INN: PRX102
Protalix Ltd.NULLNot RecruitingFemale: yes
Male: yes
18Phase 1;Phase 2United States;Paraguay;Spain;United Kingdom
384EUCTR2014-004143-13-ES
(EUCTR)
09/04/201509/02/2015An extension peadiatric study of Idursulfase-IT with Elaprase® in patients with Hunter Syndrome and early cognitive impairmentAn Open Label Extension of Study HGT-HIT-094 Evaluating Long Term Safety and Clinical Outcomes of Intrathecal Idursulfase Administered in Conjunction with Elaprase® in Patients with Hunter Syndrome and Cognitive Impairment Hunter syndrome and cognitive impairment
MedDRA version: 18.0;Level: PT;Classification code 10056889;Term: Mucopolysaccharidosis II;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 18.0;Level: LLT;Classification code 10056917;Term: Hunter's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Idursulfase-IT
Product Code: HGT-2310
INN or Proposed INN: IDURSULFASE
Other descriptive name: idursulfase-IT
Shire Human Genetic Therapies, Inc.NULLAuthorised-recruitment may be ongoing or finishedFemale: no
Male: yes
42United States;Mexico;Canada;Argentina;Spain;Colombia;United Kingdom
385NCT02350816
(ClinicalTrials.gov)
April 8, 201521/1/2015An Extension Study to Determine Safety and Efficacy for Pediatric Patients With MPS Type IIIA Disease Who Participated in Study HGT-SAN-093.An Open-Label Extension of Study HGT-SAN-093 Evaluating the Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Mucopolysaccharidosis Type IIIA DiseaseSanfilippo Syndrome;Mucopolysaccharidosis (MPS)Drug: HGT-1410ShireNULLTerminated12 Months48 MonthsAll17Phase 2United States;France;Germany;Italy;Netherlands;Spain;United Kingdom
386NCT02262338
(ClinicalTrials.gov)
April 20152/10/2014Safety and Dose Ranging Study of Insulin Receptor MoAb-IDS Fusion Protein in Patients With Hunter SyndromeA Phase 1 Safety and Dose-Finding Study of a Human Insulin Receptor Monoclonal Antibody-Human Iduronate 2-Sulfatase (IDS) Fusion Protein, AGT-182 in Adult Patients With Mucopolysaccharidosis II (MPS II, Hunter Syndrome)Mucopolysaccharidosis IIDrug: AGT-182ArmaGen, IncNULLCompleted18 YearsN/AMale6Phase 1United States;Germany;Philippines;Netherlands
387NCT02969200
(ClinicalTrials.gov)
April 20152/11/2016Fabry: Renal Function During Long-term ERT by 51Cr-EDTA ClearanceFabry Disease: Renal Function During Long-term Enzyme Replacement Therapy Evaluated by Gold Standard GFR 51Cr-EDTA ClearanceFabry DiseaseDrug: Enzyme replacement therapyUlla Feldt-RasmussenNULLCompletedN/AN/AAll52Denmark
388NCT02422654
(ClinicalTrials.gov)
April 201514/4/2015Taste Evaluation of Different Liquid Formulations With EliglustatA Single-blind, Randomized, Unbalanced Crossover Design With 5 Vehicles, 5 Periods, and 5 Sequences, Repeated-doses (With no Ingestion) Study to Assess the Palatability of Eliglustat Prototype Liquid Formulations in Healthy SubjectsGaucher DiseaseDrug: eliglustatGenzyme, a Sanofi CompanyNULLCompleted18 Years55 YearsBoth8Phase 1United States
389EUCTR2014-004143-13-GB
(EUCTR)
19/03/201530/01/2015An extension peadiatric study of Idursulfase-IT with Elaprase® in patients with Hunter Syndrome and early cognitive impairmentAn Open Label Extension of Study HGT-HIT-094 Evaluating Long Term Safety and Clinical Outcomes of Intrathecal Idursulfase Administered in Conjunction with Elaprase® in Patients with Hunter Syndrome and Cognitive Impairment Hunter syndrome and cognitive impairment
MedDRA version: 20.1;Level: PT;Classification code 10056889;Term: Mucopolysaccharidosis II;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.0;Level: LLT;Classification code 10056917;Term: Hunter's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Idursulfase-IT
Product Code: HGT-2310
INN or Proposed INN: IDURSULFASE
Other descriptive name: idursulfase-IT
Shire Human Genetic Therapies, Inc.NULLAuthorised-recruitment may be ongoing or finishedFemale: no
Male: yes
54Phase 2;Phase 3United States;France;Mexico;Canada;Argentina;Spain;Australia;Colombia;United Kingdom
390EUCTR2014-002701-38-ES
(EUCTR)
12/03/201516/01/2015A Study Using Migalastat Hydrochloride to See the Long Term Safety and Effectiveness of the Drug in Patients with Fabry DiseaseAn Open-Label, Extension Study to Evaluate the Long Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in subjects with Fabry Disease Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the gene (GLA) that encodes the lysosomal enzyme a-galactosidase A.
MedDRA version: 17.1;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03]
Product Name: Migalastat hydrochloride
Product Code: AT1001
INN or Proposed INN: migalastat
Other descriptive name: MIGALASTAT HYDROCHLORIDE
Amicus Therapeutics, Inc.NULLNot RecruitingFemale: yes
Male: yes
100Phase 3United States;Spain;Turkey;Austria;Italy;United Kingdom;Egypt;France;Canada;Argentina;Belgium;Brazil;Australia;Denmark;Japan
391EUCTR2014-003480-37-GB
(EUCTR)
10/03/201520/10/2014An Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients with CLN2 DiseaseA Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients with CLN2 Disease Late-Infantile Neuronal Ceroid Lipofuscinosis type 2 (CLN2).
MedDRA version: 20.1;Level: LLT;Classification code 10052074;Term: Neuronal ceroid lipofuscinosis NOS;System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Trade Name: Brineura
Product Code: BMN 190
INN or Proposed INN: cerliponase alfa
Other descriptive name: RECOMBINANT HUMAN TRIPEPTIDYL PEPTIDASE-1 (RHTPP1)
BioMarin Pharmaceutical Inc.NULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
23 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noUnited States;Germany;Italy;United Kingdom
392NCT02450604
(ClinicalTrials.gov)
March 5, 201518/5/2015Prevalence of Fabry's Disease in a Population of Patients With Chronic PainPrevalence of Fabry's Disease in a Population of Patients With Chronic PainFabry's Disease;Chronic PainGenetic: Diagnosis of Fabry diseaseUniversity Hospital, BordeauxNULLRecruiting6 Years80 YearsAll1000N/AFrance
393EUCTR2014-003198-40-IT
(EUCTR)
27/02/201512/12/2014Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of rhASM in Pediatric Patients <18 Years of Age with Acid Sphingomyelinase DeficiencyA Phase 1/2, Multi-Center, Open-Label, Ascending Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Exploratory Efficacy of Recombinant Human Acid Sphingomyelinase in Pediatric Patients Aged <18 Years With Acid Sphingomyelinase Deficiency Patients with acid sphingomyelinase deficiency (Niemann-Pick disease)
MedDRA version: 17.1;Level: LLT;Classification code 10041515;Term: Sphingomyelin lipidosis;System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: rhASM
Product Code: GZ402665
Other descriptive name: RECOMBINANT HUMAN ACID SPHINGOMYELINASE (rhASM)
Genzyme CorporationNULLNot Recruiting Female: yes
Male: yes
12 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noFrance;United States;Brazil;Chile;Germany;United Kingdom;Italy
394EUCTR2014-003198-40-GB
(EUCTR)
19/02/201526/11/2014Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of Olipudase Alfa in Pediatric Patients <18 Years of Age with Acid Sphingomyelinase DeficiencyA phase 1/2, multi-center, open-label, ascending dose study to evaluate the safety, tolerability, pharmacokinetics, pharmacodynamics and exploratory efficacy of olipudase alfa in pediatric patients Aged <18 Years With acid sphingomyelinase deficiency - ASCEND-Peds Patients with acid sphingomyelinase deficiency (Niemann-Pick disease)
MedDRA version: 20.1;Level: LLT;Classification code 10041515;Term: Sphingomyelin lipidosis;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Olipudase alfa (rhASM)
Product Code: GZ402665
INN or Proposed INN: Olipudase alfa
Other descriptive name: RECOMBINANT HUMAN ACID SPHINGOMYELINASE (rhASM)
Genzyme CorporationNULLNot RecruitingFemale: yes
Male: yes
20Phase 2United States;France;Brazil;Germany;Italy;United Kingdom
395EUCTR2014-003960-20-ES
(EUCTR)
18/02/201526/01/2015An Extension Study to Evaluate the Safety and Efficacy of HGT-1410 Administration in Pediatric Patients with Sanfilippo Syndrome Type AA Open-Label Extension of Study HGT-SAN-093 Evaluating theSafety and Efficacy Study of HGT-1410 (Recombinant HumanHeparan N Sulfatase) Administration via an Intrathecal DrugDelivery Device in Pediatric Patients with MucopolysaccharidosisType IIIA Disease Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 17.1;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 17.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Recombinant human heparan N-sulfatase (rhHNS)
Product Code: HGT-1410
INN or Proposed INN: Not available
Other descriptive name: Recombinant human heparan N-sulfatase
Shire human Genetic Therapies, Inc.NULLNot RecruitingFemale: yes
Male: yes
18Phase 2France;United States;Argentina;Spain;Netherlands;Germany;Italy;United Kingdom
396EUCTR2011-002750-31-CZ
(EUCTR)
16/02/201522/03/2013A study of SBC-102 (enzyme replacement therapy) in patients with lysosomal acid lipase deficiencyA multicenter, randomized, placebo-controlled study of SBC-102 in patients with lysosomal acid lipase deficiency - ARISE (Acid Lipase Replacement Investigating Safety and Efficacy) Lysosomal Acid Lipase Deficiency
MedDRA version: 20.0;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Trade Name: KANUMA
Product Name: sebelipase alfa
Product Code: SBC-102
INN or Proposed INN: NA
Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Alexion Pharmaceuticals, Inc.NULLNot Recruiting Female: yes
Male: yes
55 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): noUnited States;Taiwan;Greece;Spain;Ukraine;Russian Federation;Chile;Israel;Italy;France;Cyprus;Australia;Denmark;South Africa;Netherlands;Turkey;United Kingdom;Czech Republic;Mexico;Argentina;Poland;Brazil;Belgium;Romania;Croatia;Germany;Japan;Sweden
397EUCTR2014-002701-38-BE
(EUCTR)
09/02/201504/12/2014A Study Using Migalastat Hydrochloride to See the Long Term Safety and Effectiveness of the Drug in Patients with Fabry DiseaseAn Open-Label, Extension Study to Evaluate the Long Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in subjects with Fabry Disease Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the gene (GLA) that encodes the lysosomal enzyme a-galactosidase A.
MedDRA version: 18.1;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03]
Product Name: Migalastat hydrochloride
Product Code: AT1001
INN or Proposed INN: migalastat
Other descriptive name: MIGALASTAT HYDROCHLORIDE
Product Name: Inactive Reminder Capsules
Product Code: Inactive Reminder Capsules
INN or Proposed INN: NA
Other descriptive name: Inactive Reminder Capsules
Amicus Therapeutics, Inc.NULLNot RecruitingFemale: yes
Male: yes
100Phase 3United States;Spain;Turkey;Austria;United Kingdom;Italy;Egypt;France;Canada;Argentina;Belgium;Brazil;Australia;Denmark;Japan
398NCT02930655
(ClinicalTrials.gov)
February 1, 201510/10/2016A Study to Assess the Safety and Tolerability of Lucerastat in Subjects With Fabry DiseaseA Single-center, Open-label, Randomized, Versus a Control Group, Phase 1b Study to Evaluate the Safety, Tolerability, Pharmacodynamics, and Pharmacokinetics of Oral Lucerastat in Adult Subjects With Fabry Disease Receiving Enzyme Replacement TherapyFabry DiseaseDrug: Lucerastat;Drug: Enzyme replacement therapy (ERT)Idorsia Pharmaceuticals Ltd.NULLCompleted18 YearsN/AAll14Phase 1Germany
399NCT02485899
(ClinicalTrials.gov)
February 201524/4/2015A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients With CLN2 DiseaseA Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients With CLN2 DiseaseJansky-Bielschowsky Disease;Batten Disease;Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2;CLN2 Disease;CLN2 DisorderBiological: BMN 190;Device: Intraventricular Access DeviceBioMarin PharmaceuticalNULLCompleted3 Years16 YearsAll23Phase 1/Phase 2United States;Germany;Italy;United Kingdom
400NCT02478840
(ClinicalTrials.gov)
February 20159/2/2015Evaluation of Long-term Efficacy of Treatment With LamazymA Single Center, Open Label Clinical Trial Investigating the Long-term Efficacy of rhLAMAN (Recombinant Human Alpha-mannosidase or Lamazym) Treatment in Subjects With Alpha-Mannosidosis Who Previously Participated in Lamazym TrialsAlpha-MannosidosisDrug: LamazymZymenex A/SNULLCompletedN/AN/AAll18Phase 3Denmark
401EUCTR2013-000336-97-DK
(EUCTR)
30/01/201503/12/2014A trial of the long-term safety of Lamazym aftercare treatment of subjects with alpha-Mannosidosis who previously participated in Lamazym-trialsA multi-center, un-controlled, open-labeled trial of the long-term safety of Lamazym aftercare treatment of subjects with alpha-Mannosidosis Alpha-Mannosidosis
MedDRA version: 20.0;Level: LLT;Classification code 10032658;Term: Other specified disorders of carbohydrate transport and metabolism;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Lamazym
Product Code: rhLAMAN
INN or Proposed INN: Velmanase alfa
Other descriptive name: LAMAZYM
Chiesi Farmaceutici S.p.A.NULLNot RecruitingFemale: yes
Male: yes
13Phase 3France;Denmark
402EUCTR2014-002596-28-GB
(EUCTR)
28/01/201512/06/2015Treatment for Nonsense Mutation Mucopolysaccharidosis Type IA Phase 2 Study of Ataluren (PTC124) as Treatment for Nonsense Mutation Mucopolysaccharidosis Type I Nonsense mutation Mucopolysaccharidosis Type I
MedDRA version: 20.1;Level: PT;Classification code 10056886;Term: Mucopolysaccharidosis I;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: ataluren
Product Code: PTC124
INN or Proposed INN: ATALUREN
Product Name: ataluren
Product Code: PTC124
INN or Proposed INN: ATALUREN
Product Name: ataluren
Product Code: PTC124
INN or Proposed INN: ATALUREN
PTC Therapeutics Inc.NULLNot RecruitingFemale: yes
Male: yes
18Phase 2Germany;United Kingdom
403EUCTR2014-002701-38-GB
(EUCTR)
28/01/201509/12/2014A Study Using Migalastat Hydrochloride to See the Long Term Safety and Effectiveness of the Drug in Patients with Fabry DiseaseAn Open-Label, Extension Study to Evaluate the Long Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in subjects with Fabry Disease Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the gene (GLA) that encodes the lysosomal enzyme a-galactosidase A.
MedDRA version: 18.1;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03]
Product Name: Migalastat hydrochloride
Product Code: AT1001
INN or Proposed INN: migalastat
Other descriptive name: MIGALASTAT HYDROCHLORIDE
Product Name: Inactive Reminder Capsules
Product Code: Inactive Reminder Capsules
INN or Proposed INN: NA
Other descriptive name: Inactive Reminder Capsules
Amicus Therapeutics, Inc.NULLNot RecruitingFemale: yes
Male: yes
100Phase 3United States;Spain;Turkey;Austria;United Kingdom;Italy;Egypt;France;Canada;Argentina;Belgium;Brazil;Australia;Denmark;Japan
404EUCTR2014-003480-37-DE
(EUCTR)
23/01/201503/11/2014An Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients with CLN2 DiseaseA Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients with CLN2 Disease Late-Infantile Neuronal Ceroid Lipofuscinosis type 2(CLN2).
MedDRA version: 20.1;Level: LLT;Classification code 10052074;Term: Neuronal ceroid lipofuscinosis NOS;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Trade Name: Brineura
Product Code: BMN 190
INN or Proposed INN: cerliponase alfa
Other descriptive name: RECOMBINANT HUMAN TRIPEPTIDYL PEPTIDASE-1 (RHTPP1)
BioMarin Pharmaceutical Inc.NULLNot RecruitingFemale: yes
Male: yes
23Phase 2United States;Germany;Italy;United Kingdom
405EUCTR2014-003950-15-DK
(EUCTR)
22/01/201525/11/2014Medical research trial for testing drug treatment of alpha-MannosidosisA single center, open label clinical trial investigating the long-term efficacy of rhLAMAN (recombinant human alpha-mannosidase or Lamazym) treatment in subjects with alpha-Mannosidosis who previously participated in Lamazym trials alpha-Mannosidosis
MedDRA version: 17.1;Level: LLT;Classification code 10032658;Term: Other specified disorders of carbohydrate transport and metabolism;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Lamazym
Product Code: rhLAMAN
INN or Proposed INN: recombinant human lysosomal alpha-mannosidase
Other descriptive name: LAMAZYM
Zymenex A/SNULLNot RecruitingFemale: yes
Male: yes
Denmark
406NCT02324049
(ClinicalTrials.gov)
January 22, 201515/12/2014Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 in Mucopolysaccharidosis III, Type B (MPS IIIB)A Phase I/II Open Label Study in MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered IntravenouslyMucopolysaccharidosis IIIBDrug: SBC-103Alexion PharmaceuticalsNULLCompleted2 Years12 YearsAll11Phase 1/Phase 2United States;Spain;United Kingdom
407EUCTR2011-004287-30-GB
(EUCTR)
19/01/201511/04/2014 Study of sebelipase alfa in a broad population of patients with Lysosomal Acid Lipase Deficiency (LALD). A Multicenter, Open-Label Study of Sebelipase Alfa in Patients with Lysosomal Acid Lipase Deficiency Lysosomal Acid Lipase Deficiency (LALD)
MedDRA version: 18.1;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Sebelipase Alfa
Product Code: SBC-102
INN or Proposed INN: sebelipase alfa
Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Alexion Pharmaceuticals IncNULLNot Recruiting Female: yes
Male: yes
20 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noUnited States;Spain;Turkey;Russian Federation;United Kingdom;Italy;Mexico;Canada;Belgium;Poland;Brazil;Croatia;Australia;Denmark;Netherlands;Germany;Japan
408NCT02559830
(ClinicalTrials.gov)
January 201512/8/2015Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and AdrenoleukodystrophyA Phase I/II Clinical Trial of Lentiviral Hematopoietic Stem Cell Gene Therapy for Treatment of Developed Metachromatic Leukodystrophy and AdrenoleukodystrophyMetachromatic Leukodystrophy;AdrenoleukodystrophyGenetic: transduced CD34+ hematopoietic stem cellShenzhen Second People's HospitalShenzhen University;Guangzhou Women and Children's Medical CenterRecruiting1 Year16 YearsAll50Phase 1/Phase 2China
409JPRN-UMIN000020032
2014/12/1902/12/2015Intrathecal 2-hydroxypropyl-beta-cyclodextrin (HPBCD) therapy in adult-onset Niemann-Pick disease type C (NPC)Intrathecal 2-hydroxypropyl-beta-cyclodextrin (HPBCD) therapy in adult-onset Niemann-Pick disease type C (NPC) - IT-HPBCD therapy in adult-onset NPC Niemann-Pick disease type C2-hydroxypropyl-beta-cyclodextrin (HPBCD) 100-400mg, every 4 week, two yearsJichi Medical University, Saitama Medical CenterSaga UniversityKumamoto UniversityTohoku UniversityInstitute for Neurological DisordersComplete: follow-up continuing20years-oldNot applicableMale and Female2Not applicableJapan
410EUCTR2014-002701-38-AT
(EUCTR)
17/12/201412/11/2014A Study Using Migalastat Hydrochloride to See the Long Term Safety and Effectiveness of the Drug in Patients with Fabry DiseaseAn Open-Label, Extension Study to Evaluate the Long Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in subjects with Fabry Disease Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the gene (GLA) that encodes the lysosomal enzyme a-galactosidase A.
MedDRA version: 19.1;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03]
Product Name: Migalastat hydrochloride
Product Code: AT1001
INN or Proposed INN: migalastat
Other descriptive name: MIGALASTAT HYDROCHLORIDE
Product Name: Inactive Reminder Capsules
Product Code: Inactive Reminder Capsules
INN or Proposed INN: NA
Other descriptive name: Inactive Reminder Capsules
Amicus Therapeutics, Inc.NULLNot RecruitingFemale: yes
Male: yes
100Phase 3United States;Spain;Turkey;Austria;United Kingdom;Italy;Egypt;France;Canada;Argentina;Belgium;Brazil;Australia;Denmark;Japan
411NCT02230566
(ClinicalTrials.gov)
December 201422/8/2014A Phase 3 Study of UX003 Recombinant Human Betaglucuronidase (rhGUS) Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7)A Randomized, Placebo-Controlled, Blind-Start, Single-Crossover Phase 3 Study to Assess the Efficacy and Safety of UX003 rhGUS Enzyme Replacement Therapy in Patients With MPS 7MPS 7;Sly Syndrome;Mucopolysaccharidosis;MPS VIIDrug: UX003;Other: PlaceboUltragenyx Pharmaceutical IncNULLCompleted5 Years35 YearsAll12Phase 3United States
412NCT02228460
(ClinicalTrials.gov)
November 201427/8/2014Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-naïve Adult Male Patients With Fabry DiseaseA Phase 2 Study to Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ/SAR402671 in Enzyme Replacement Therapy (ERT) Treatment-naïve Adult Male Patients Diagnosed With Fabry DiseaseFabry DiseaseDrug: GZ/SAR402671Genzyme, a Sanofi CompanyNULLCompleted18 Years49 YearsMale11Phase 2United States;France;Poland;Russian Federation;United Kingdom;Czech Republic;Czechia
413EUCTR2013-005324-41-GB
(EUCTR)
07/10/201430/06/2014Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ402671 in Treatment-naïve Adult Male Patients with Fabry DiseaseA Phase 2 Study to Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ/SAR402671 in Enzyme Replacement Therapy (ERT) Treatment-naïve Adult Male Patients Diagnosed with Fabry Disease Fabry disease
MedDRA version: 17.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Code: GZ402671 / SAR402671
Other descriptive name: Genz-682452-AA
Product Code: GZ402671 / SAR402671
Other descriptive name: Genz-682452-AA
Genzyme CorporationNULLNot RecruitingFemale: no
Male: yes
8Phase 2France;United States;Czech Republic;Poland;Russian Federation;United Kingdom
414NCT02194985
(ClinicalTrials.gov)
October 201417/7/2014Open-Label Extension Study of the Long-Term Effects of Migalastat HCL in Patients With Fabry DiseaseAn Open-Label Extension Study to Evaluate the Long Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in Subjects With Fabry DiseaseFabry DiseaseDrug: migalastat HCl 150 mgAmicus TherapeuticsNULLCompleted18 YearsN/AAll76Phase 3United States;Argentina;Australia;Austria;Belgium;Brazil;Canada;Denmark;Egypt;France;Italy;Japan;Spain;Turkey;United Kingdom
415EUCTR2013-005324-41-CZ
(EUCTR)
19/09/201403/07/2014Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ402671 in Treatment-naïve Adult Male Patients with Fabry DiseaseA Phase 2 Study to Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ/SAR402671 in Enzyme Replacement Therapy (ERT) Treatment-naïve Adult Male Patients Diagnosed with Fabry Disease Fabry disease
MedDRA version: 17.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Code: GZ402671 / SAR402671
Other descriptive name: Genz-682452-AA
Product Code: GZ402671 / SAR402671
Other descriptive name: Genz-682452-AA
Genzyme CorporationNULLNot RecruitingFemale: no
Male: yes
8Phase 2France;United States;Czech Republic;Poland;Russian Federation;United Kingdom
416EUCTR2011-004287-30-IT
(EUCTR)
18/09/201418/04/2014Study of sebelipase alfa in a broad population of patients with Lysosomal Acid Lipase Deficiency (LALD). A Multicenter, Open-Label Study of Sebelipase Alfa in Patients with Lysosomal Acid Lipase Deficiency Lysosomal Acid Lipase Deficiency (LALD)
MedDRA version: 16.1;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Sebelipase Alfa
Product Code: SBC-102
INN or Proposed INN: sebelipase alfa
Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Synageva BioPharma Corp.NULLNot RecruitingFemale: yes
Male: yes
20Phase 2United States;Spain;Turkey;Russian Federation;United Kingdom;Italy;Mexico;Canada;Belgium;Brazil;Poland;Croatia;Australia;Denmark;Netherlands;Germany;Japan
417EUCTR2014-000533-22-IT
(EUCTR)
18/09/201422/07/2014Study of sebelipase alfa in young children with Lysosomal Acid Lipase Deficiency (LALD). A Phase 2, Open Label, Multicenter Study to Evaluate the Safety, Tolerability, Efficacy, and Pharmacokinetics of Sebelipase Alfa in Infants with Rapidly Progressive Lysosomal Acid Lipase Deficiency Lysosomal Acid Lipase Deficiency (LALD)
MedDRA version: 17.0;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Sebelipase Alfa
Product Code: SBC-102
INN or Proposed INN: sebelipase alfa
Other descriptive name: lysosomal acid lipase, Esterase cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Synageva BioPharma Corp.NULLNot RecruitingFemale: yes
Male: yes
10Phase 2United States;Finland;United Kingdom;Italy
418EUCTR2013-003450-24-IT
(EUCTR)
11/09/201409/05/2014Safety and Efficacy Study of HGT-1410 Administration in Pediatric Patients with Early Stage of Sanfilippo Syndrome Type AA Randomized, Controlled, Open-label, Multicenter, Phase IIb Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration via an Intrathecal Drug Delivery Device in Pediatric Patients with Early Stage Mucopolysaccharidosis Type III A Disease Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 17.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 17.0;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Recombinant human heparan N-sulfatase (rhHNS)
Product Code: HGT-1410
INN or Proposed INN: Not available
Other descriptive name: Recombinant human heparan N-sulfatase
Shire Human Genetic Therapies, IncNULLNot RecruitingFemale: yes
Male: yes
18Phase 2France;Spain;Netherlands;Germany;United Kingdom;Italy
419NCT02294877
(ClinicalTrials.gov)
September 201428/10/2014A Multicenter, Multinational, Observational Morquio A Registry Study (MARS)A Multicenter, Multinational, Observational Morquio A Registry Study (MARS)Mucopolysaccharidosis IV Type A;Morquio A Syndrome;MPS IVADrug: Vimizim® (elosulfase alfa)BioMarin PharmaceuticalICON plcActive, not recruitingN/AN/AAll425United States;Australia;Austria;Belgium;Canada;Czechia;Denmark;France;Ireland;Italy;Malaysia;Netherlands;Poland;Portugal;Puerto Rico;Taiwan;United Kingdom;Germany
420NCT02254863
(ClinicalTrials.gov)
September 201423/9/2014UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like CellsAugmentation of Umbilical Cord Blood Transplantation for Inherited Metabolic Diseases With Intrathecal Administration of Human Umbilical Cord Blood-Derived Oligodendrocyte-Like CellsAdrenoleukodystrophy;Batten Disease;Mucopolysaccharidosis II;Leukodystrophy, Globoid Cell;Leukodystrophy, Metachromatic;Neimann Pick Disease;Pelizaeus-Merzbacher Disease;Sandhoff Disease;Tay-Sachs Disease;Brain Diseases, Metabolic, Inborn;Alpha-Mannosidosis;Sanfilippo MucopolysaccharidosesBiological: DUOC-01Joanne Kurtzberg, MDThe Marcus FoundationRecruiting1 Week22 YearsAll40Phase 1United States
421EUCTR2013-001152-35-ES
(EUCTR)
21/08/201404/07/2014A safety and efficacy study in MPS 7 patients receiving enzyme (UX003) replacement by intravenous injectionAn Open-Label Phase 1/2 Study to Assess the Safety, Efficacy and Dose of UX003 rhGUS Enzyme Replacement Therapy in Patients with MPS 7 Mucopolysaccharidosis type 7 (MPS 7, Sly syndrome);Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]Product Name: Recombinant human beta-glucuronidase
Product Code: UX003
INN or Proposed INN: Not available
Other descriptive name: RECOMBINANT HUMAN BETA GLUCURONIDASE; RHGUS
Ultragenyx Pharmaceutical Inc.NULLNot RecruitingFemale: yes
Male: yes
5Phase 1;Phase 2Spain;United Kingdom
422EUCTR2011-004287-30-DE
(EUCTR)
12/08/201413/05/2014Study of sebelipase alfa in a broad population of patients with Lysosomal Acid Lipase Deficiency (LALD). A Multicenter, Open-Label Study of Sebelipase Alfa in Patients with Lysosomal Acid Lipase Deficiency Lysosomal Acid Lipase Deficiency (LALD)
MedDRA version: 19.1;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Sebelipase Alfa
Product Code: SBC-102
INN or Proposed INN: sebelipase alfa
Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Alexion Pharmaceuitcals IncNULLNot RecruitingFemale: yes
Male: yes
30Phase 2United States;Spain;Turkey;Russian Federation;United Kingdom;Italy;Mexico;Canada;Belgium;Brazil;Croatia;Australia;Denmark;Germany;Netherlands;Japan
423JPRN-UMIN000023094
2014/08/0110/07/2016A study on the safety and efficacy of cyclodextrin intrathecal administration in Niemann-Pick disease type CA study on the safety and efficacy of cyclodextrin intrathecal administration in Niemann-Pick disease type C - IT-HPBCD therapy for NPC Niemann-Pick disease type C2-hydroxypropyl-beta-cyclodextrin (HPBCD) 5-20mg/kg, every 4 weeks, for two yearsNara Medical UniversitySaga UniversityKumamoto UniversityComplete: follow-up continuing1years-old25years-oldMale and Female1Not selectedJapan
424EUCTR2011-004287-30-BE
(EUCTR)
22/07/201426/05/2014Study of sebelipase alfa in a broad population of patients with Lysosomal Acid Lipase Deficiency (LALD). A Multicenter, Open-Label Study of Sebelipase Alfa in Patients with Lysosomal Acid Lipase Deficiency Lysosomal Acid Lipase Deficiency (LALD)
MedDRA version: 17.1;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Sebelipase Alfa
Product Code: SBC-102
INN or Proposed INN: sebelipase alfa
Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Synageva BioPharma Corp.NULLNot RecruitingFemale: yes
Male: yes
20Phase 2United States;Spain;Turkey;Russian Federation;United Kingdom;Italy;Mexico;Canada;Belgium;Brazil;Croatia;Australia;Denmark;Netherlands;Germany;Japan
425EUCTR2013-003228-35-ES
(EUCTR)
16/07/201412/11/2013Study of the preliminary efficacy and safety of topical cysteamine formulated in viscous solution in cystinosis patientsStudy of the preliminary efficacy and safety of topical cysteamine formulated in viscous solution in cystinosis patients - Viscou solution cysteamina Cystinosis
MedDRA version: 16.1;Level: PT;Classification code 10011777;Term: Cystinosis;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: cysteamine (mercaptamine) viscous solution
INN or Proposed INN: Mercaptamine
Other descriptive name: MERCAPTAMINE HYDROCHLORIDE
Fundació Hospital Universitari Vall d'Hebron - Institut de Recerca (VHIR)NULLNot RecruitingFemale: yes
Male: yes
Spain
426EUCTR2013-003400-39-GB
(EUCTR)
15/07/201407/05/2014A Phase 1/2 open label study in MPS IIIB subjects to investigate the long-term safety and effect of SBC-103 given by IV infusion.A Phase I/II Open Label Study in MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously Mucopolysaccharidosis III, type B (MPS IIIB), Sanfilippo B
MedDRA version: 19.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 19.0;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Name: Recombinant Human Alpha-N-Acetylglucosaminidase (rhNAGLU)
Product Code: SBC-103
INN or Proposed INN: not available
Other descriptive name: rhNAGLU
Alexion Pharmaceuticals, Inc.NULLNot Recruiting Female: yes
Male: yes
9 Human pharmacology (Phase 1): yes Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noUnited States;Spain;United Kingdom
427NCT02171104
(ClinicalTrials.gov)
July 10, 201420/6/2014MT2013-31: Allo HCT for Metabolic Disorders and Severe OsteopetrosisMT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATGMucopolysaccharidosis Disorders;Hurler Syndrome;Hunter Syndrome;Maroteaux Lamy Syndrome;Sly Syndrome;Alpha-Mannosidosis;Fucosidosis;Aspartylglucosaminuria;Glycoprotein Metabolic Disorders;Sphingolipidoses;Recessive Leukodystrophies;Globoid Cell Leukodystrophy;Metachromatic Leukodystrophy;Niemann-Pick B;Niemann-Pick C Subtype 2;Sphingomyelin Deficiency;Peroxisomal Disorders;Adrenoleukodystrophy With Cerebral Involvement;Zellweger Syndrome;Neonatal Adrenoleukodystrophy;Infantile Refsum Disease;Acyl-CoA Oxidase Deficiency;D-Bifunctional Enzyme Deficiency;Multifunctional Enzyme Deficiency;Alpha-methylacyl-CoA Racmase Deficiency;Mitochondrial Neurogastrointestingal Encephalopathy;Severe Osteopetrosis;Hereditary Leukoencephalopathy With Axonal Spheroids (HDLS; CSF1R Mutation);Inherited Metabolic DisordersBiological: Stem Cell Transplantation;Drug: IMD Preparative Regimen;Drug: Osteopetrosis Only Preparative Regimen;Drug: Osteopetrosis Haploidentical Only Preparative Regimen;Drug: cALD SR-A (Standard-Risk, Regimen A);Drug: cALD SR-B (Standard-Risk, Regimen B);Drug: cALD HR-D (High-Risk, Regimen C);Drug: cALD HR-D (High-Risk, Regimen D)Masonic Cancer Center, University of MinnesotaNULLRecruitingN/A55 YearsAll100Phase 2United States
428EUCTR2011-004800-40-AT
(EUCTR)
08/07/201415/05/2014A Study using Migalastat to see the safety and usefulness of the drug in patients with Fabry Disease.An Open-Label Extension Study to Evaluate the Long Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in Subjects with Fabry Disease. Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the gene (GLA) that encodes the lysosomal enzyme a-galactosidase A.
MedDRA version: 17.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03]
Product Name: Migalastat Hydrochloride
Product Code: AT1001
INN or Proposed INN: Migalastat Hydrochloride
Other descriptive name: GR181413A
Amicus Therapeutics, Inc.NULLNot RecruitingFemale: yes
Male: yes
100Phase 3United States;Spain;Turkey;Austria;Italy;United Kingdom;Egypt;France;Canada;Argentina;Belgium;Brazil;Australia;Denmark
429EUCTR2011-004287-30-HR
(EUCTR)
07/07/201403/09/2014 Study of sebelipase alfa in a broad population of patients with Lysosomal Acid Lipase Deficiency (LALD).A Multicenter, Open-Label Study of Sebelipase Alfa in Patients with Lysosomal Acid Lipase Deficiency Lysosomal Acid Lipase Deficiency (LALD)
MedDRA version: 19.0;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Sebelipase Alfa
Product Code: SBC-102
INN or Proposed INN: sebelipase alfa
Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Alexion Pharmaceuitcals IncNULLNot Recruiting Female: yes
Male: yes
20 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noUnited States;Spain;Turkey;Russian Federation;United Kingdom;Italy;Mexico;Canada;Belgium;Brazil;Croatia;Australia;Denmark;Netherlands;Germany;Japan
430NCT02112994
(ClinicalTrials.gov)
June 24, 201420/3/2014Safety and Efficacy Study of Sebelipase Alfa in Participants With Lysosomal Acid Lipase DeficiencyA Multi-Center, Open-Label Study of Sebelipase Alfa in Patients With Lysosomal Acid Lipase DeficiencyLysosomal Acid Lipase DeficiencyDrug: Sebelipase AlfaAlexion PharmaceuticalsNULLCompleted8 MonthsN/AAll31Phase 2United States;Australia;Belgium;Brazil;Canada;Croatia;Denmark;Germany;Italy;Mexico;Netherlands;Russian Federation;Spain;Turkey;United Kingdom
431EUCTR2011-004287-30-DK
(EUCTR)
19/06/201403/04/2014Study of sebelipase alfa in a broad population of patients with Lysosomal Acid Lipase Deficiency (LALD). A Multicenter, Open-Label Study of Sebelipase Alfa in Patients with Lysosomal Acid Lipase Deficiency Lysosomal Acid Lipase Deficiency (LALD)
MedDRA version: 19.1;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Sebelipase Alfa
Product Code: SBC-102
INN or Proposed INN: sebelipase alfa
Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Alexion Pharmaceuticals incNULLNot RecruitingFemale: yes
Male: yes
20Phase 2United States;Spain;Turkey;Russian Federation;United Kingdom;Italy;Mexico;Canada;Belgium;Poland;Brazil;Croatia;Denmark;Australia;Netherlands;Germany;Japan
432EUCTR2013-001479-18-GB
(EUCTR)
09/06/201401/05/2014High Dose Genistein in Sanfilippo SyndromeA Phase III, Double Blinded, Randomised, Placebo Controlled Clinical Trial of High Dose Oral Genistein Aglycone in Patients with Sanfilippo Syndrome (Mucopolysaccharidosis III) - High Dose Genistein in Sanfilippo Syndrome Sanfilippo syndrome (Mucopolysaccharidosis III)
MedDRA version: 20.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Genistein aglycone
Product Code: 500 0500 0
INN or Proposed INN: Genistein aglycone
Other descriptive name: GENISTEIN
Manchester University NHS Foundation TrustNULLNot Recruiting Female: yes
Male: yes
24 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): noUnited Kingdom
433EUCTR2012-003775-20-CZ
(EUCTR)
06/06/201414/02/2014A safety and efficacy extension of study HGT-MLD-070 in Children with Metachromatic Leukodystrophy recieving enzyme (HGT-1110) replacement by intrathecal injectionAn Open-label Extension of Study HGT-MLD-070 Evaluating Long Term Safety and Efficacy of Intrathecal Administration of HGT-1110 in Patients with Metachromatic Leukodystrophy Treatment of Metachromatic Leukodystrophy
MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: SHP611
INN or Proposed INN: Not available
Other descriptive name: Recombinant Human Arylsulfatase A (rhASA)
Shire Human Genetics Therapies IncNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
24Phase 1;Phase 2France;Czech Republic;Brazil;Denmark;Australia;Germany;United Kingdom;Japan;Italy
434NCT02193867
(ClinicalTrials.gov)
June 6, 20147/7/2014Clinical Study In Infants With Rapidly Progressive Lysosomal Acid Lipase DeficiencyA Phase 2, Open Label, Multicenter Study to Evaluate the Safety, Tolerability, Efficacy, and Pharmacokinetics of Sebelipase Alfa in Infants With Rapidly Progressive Lysosomal Acid Lipase DeficiencyLysosomal Acid Lipase DeficiencyDrug: Sebelipase AlfaAlexion PharmaceuticalsNULLTerminatedN/A8 MonthsAll10Phase 2United States;Finland;Italy;United Kingdom
435NCT01801709
(ClinicalTrials.gov)
June 201428/1/2013Intracerebral Gene Therapy for Children With Early Onset Forms of Metachromatic LeukodystrophyA Phase I/II, Open Labeled, Monocentric Study of Direct Intracranial Administration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Serotype rh.10 Expressing the Human ARSA cDNA to Children With Metachromatic Leukodystrophy.Metachromatic LeukodystrophyGenetic: intracerebral administration of AAVrh.10cuARSAInstitut National de la Santé Et de la Recherche Médicale, FranceEuropean Leukodystrophy Association;Assistance Publique - Hôpitaux de ParisActive, not recruiting6 Months5 YearsAll5Phase 1/Phase 2France
436EUCTR2014-000350-11-DE
(EUCTR)
28/05/201410/03/2014Treatment of patients, who have Mucopolysaccharidosis Type I, receiving pentosan polysulfate subcutaneous injections weeklyAn open label, randomized study to investigate the safety of weekly pentosan polysulfate injections in adult patients with Mucopolysaccharidosis Type I receiving enzyme replacement therapy. Mucopolysaccharidosis type I (alpha-L-Iduronidase deficiency)
MedDRA version: 17.0;Level: LLT;Classification code 10056888;Term: Mucopolysaccharidosis IS;System Organ Class: 100000004850
MedDRA version: 17.0;Classification code 10056887;Term: Mucopolysaccharidosis IH/S;Classification code 10028094;Term: Mucopolysaccharidosis IH;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Trade Name: Pentosan Polysulfat SP 54® injection solution
Product Name: Pentosan Polysulphate SP54®
INN or Proposed INN: PENTOSAN POLYSULFATE SODIUM
Other descriptive name: Pentosan Polysulphate SP54
Multiplex Pharma Holdings LLCNULLNot RecruitingFemale: yes
Male: yes
6Germany
437EUCTR2014-000533-22-GB
(EUCTR)
28/05/201424/04/2014 Study of sebelipase alfa in young children with Lysosomal Acid Lipase Deficiency (LALD). A Phase 2, Open Label, Multicenter Study to Evaluate the Safety, Tolerability, Efficacy, and Pharmacokinetics of Sebelipase Alfa in Infants with Rapidly Progressive Lysosomal Acid Lipase Deficiency Lysosomal Acid Lipase Deficiency (LALD)
MedDRA version: 18.1;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Sebelipase Alfa
Product Code: SBC-102
INN or Proposed INN: sebelipase alfa
Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Alexion Pharmaceuticals IncNULLNot Recruiting Female: yes
Male: yes
10 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noUnited States;Finland;Italy;United Kingdom
438EUCTR2011-004287-30-ES
(EUCTR)
28/05/201404/04/2014Study of sebelipase alfa in a broad population of patients with Lysosomal Acid Lipase Deficiency (LALD).A Multicenter, Open-Label Study of Sebelipase Alfa in Patients with Lysosomal Acid Lipase Deficiency Lysosomal Acid Lipase Deficiency (LALD)
MedDRA version: 16.1;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Sebelipasa Alfa
Product Code: SBC-102
INN or Proposed INN: sebelipasa alfa
Other descriptive name: lipasa ácida lisosómica, esterasa, colesterol (gen humano LIPA), lipasa ácida lisosómica (gen humano LIPA); USAN: sebelipasa alfa
Synageva BioPharma Corp.NULLNot RecruitingFemale: yes
Male: yes
20Phase 2Netherlands;Germany;Japan;United States;Spain;Turkey;Russian Federation;United Kingdom;Italy;Mexico;Canada;Belgium;Brazil;Poland;Croatia;Australia;Denmark
439EUCTR2012-005430-11-IT
(EUCTR)
14/05/201420/01/2014Phase 1/2 study to evaluate safety and efficacy of BMN 190 in patients with CLN2A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 190 in Patients with Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) Disease Neuronal Ceroid Lipofuscinosis Type 2 (CLN2).
MedDRA version: 16.1;Level: LLT;Classification code 10052074;Term: Neuronal ceroid lipofuscinosis NOS;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Name: N/A
Product Code: BMN 190
INN or Proposed INN: TBD
Other descriptive name: recombinant human tripeptidyl peptidase-1
BioMarin Pharmaceutical Inc.NULLNot RecruitingFemale: yes
Male: yes
22Phase 1;Phase 2Germany;United Kingdom;Italy
440NCT02232477
(ClinicalTrials.gov)
May 20143/9/2014Extension Study of Intrathecal Enzyme Replacement for Cognitive Decline in MPS IAn Extension Study of Intrathecal Enzyme Replacement for Cognitive Decline in Mucopolysaccharidosis IMucopolysaccharidosis I;Cognitive DeclineDrug: Intrathecal recombinant human alpha iduronidaseagnes chenUniversity of Minnesota;UCSF Benioff Children's Hospital Oakland;University of California, Los Angeles;The Ryan Foundation;Rare Diseases Clinical Research Network;National Institute of Neurological Disorders and Stroke (NINDS)Terminated6 YearsN/AAll6N/AUnited States
441EUCTR2013-003450-24-DE
(EUCTR)
09/04/201407/11/2013Safety and Efficacy Study of HGT-1410 Administration in Pediatric Patients with Early Stage of Sanfilippo Syndrome Type AA Randomized, Controlled, Open-label, Multicenter, Phase IIb Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration via an Intrathecal Drug Delivery Device in Pediatric Patients with Early Stage Mucopolysaccharidosis Type III A Disease Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 17.1;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 17.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Recombinant human heparan N-sulfatase (rhHNS)
Product Code: HGT-1410
INN or Proposed INN: Not available
Other descriptive name: Recombinant human heparan N-sulfatase
Shire Human Genetic Therapies, IncNULLNot RecruitingFemale: yes
Male: yes
18Phase 2France;United States;Argentina;Brazil;Spain;Netherlands;Germany;Italy;United Kingdom
442NCT02107846
(ClinicalTrials.gov)
April 20144/4/2014An Open-Label, Dose Escalation Study to Evaluate the Safety and the Pharmacokinetics of Oral PRX-112A Phase 2a, Open-Label, Sequential Dose Escalation Study to Evaluate the Safety and the Pharmacokinetics of Oral PRX-112 (Plant Recombinant Human Glucocerebrosidase) in Enzyme Replacement Therapy-Naïve Subjects With Gaucher DiseaseGaucher DiseaseDrug: PRX-112ProtalixNULLCompleted18 YearsN/ABoth10Phase 2Israel
443NCT02124070
(ClinicalTrials.gov)
March 26, 201425/4/2014Therapeutic Effect of Recombinant Human Growth Hormone (rhGH) on the Myopathy of CystinosisTherapeutic Effect of Recombinant Human Growth Hormone (rhGH) on the Myopathy of CystinosisCystinosis;MyopathyDrug: rh Growth HormoneNational Human Genome Research Institute (NHGRI)NULLWithdrawn18 Years70 YearsAll0Phase 1/Phase 2United States
444NCT02055118
(ClinicalTrials.gov)
March 24, 201417/1/2014Study of Intrathecal Idursulfase-IT Administered in Conjunction With Elaprase® in Pediatric Patients With Hunter Syndrome and Early Cognitive ImpairmentA Controlled, Randomized, Two-arm, Open-label, Assessor-blinded, Multicenter Study of Intrathecal Idursulfase-IT Administered in Conjunction With Elaprase® in Pediatric Patients With Hunter Syndrome and Early Cognitive ImpairmentHunter SyndromeBiological: idursulfase-IT;Other: No IT treatmentShireNULLCompletedN/A18 YearsMale58Phase 2/Phase 3United States;Australia;Canada;France;Mexico;Spain;United Kingdom;Argentina;Colombia
445EUCTR2013-003450-24-NL
(EUCTR)
03/03/201421/11/2013Safety and Efficacy Study of HGT-1410 Administration in Pediatric Patients with Early Stage of Sanfilippo Syndrome Type AA Randomized, Controlled, Open-label, Multicenter, Phase IIb Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration via an Intrathecal Drug Delivery Device in Pediatric Patients with Early Stage Mucopolysaccharidosis Type III A Disease Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 17.1;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 17.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Recombinant human heparan N-sulfatase (rhHNS)
Product Code: HGT-1410
INN or Proposed INN: Not available
Other descriptive name: Recombinant human heparan N-sulfatase
Shire Human Genetic Therapies, IncNULLNot RecruitingFemale: yes
Male: yes
18Phase 2France;United States;Argentina;Spain;Germany;Netherlands;Italy;United Kingdom
446NCT02082327
(ClinicalTrials.gov)
March 20146/3/2014A Phase 1 Study To Evaluate the Safety of Migalastat Hydrochloride Given Intravenously to Healthy VolunteersA Phase 1, Randomized, Double-Blind, Placebo-Controlled, Single Dose Escalation Trial to Evaluate the Safety, Tolerability and Pharmacokinetics of Migalastat Hydrochloride Given Intravenously to Healthy Volunteers With an Open-Label, Randomized, Two-Way Crossover ArmFabry DiseaseDrug: IV migalastat HCl;Drug: IV placebo;Drug: oral migalastat HClAmicus TherapeuticsNULLCompleted18 Years45 YearsBoth31Phase 1Netherlands
447NCT02060526
(ClinicalTrials.gov)
February 26, 201410/2/2014Randomized, Controlled, Open-label, Multicenter, Safety and Efficacy Study of rhHNS Administration Via an IDDD in Pediatric Patients With Early Stage MPS IIIA DiseaseA Randomized, Controlled, Open-label, Multicenter, Phase IIb Safety and Efficacy Study of rhHNS (Recombinant Human Heparan N Sulfatase) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Early Stage Mucopolysaccharidosis Type IIIA DiseaseSanfilippo SyndromeDrug: Recombinant human heparan N-sulfatase [rhHNS]ShireNULLCompleted12 Months48 MonthsAll21Phase 2United States;Argentina;France;Germany;Italy;Netherlands;Spain;United Kingdom
448EUCTR2012-002773-64-IT
(EUCTR)
12/02/201421/11/2013A Long-Term Open-Label, Safety and Superior Effectiveness Study ofCysteamine Bitartrate Delayed-release Capsules (RP103) in Patients withCystinosisA Long-Term Open-Label, Safety and Superior Effectiveness Study ofCysteamine Bitartrate Delayed-release Capsules (RP103) in Patients withCystinosis - RP103-07 Cystinosis
MedDRA version: 16.1;Level: PT;Classification code 10011777;Term: Cystinosis;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Cysteamine bitartrate (INN: mercaptamine bitartrate )
Product Code: RP103
INN or Proposed INN: mercaptamine bitartrate
Product Name: Cysteamine bitartrate (INN: mercaptamine bitartrate )
Product Code: RP103
INN or Proposed INN: mercaptamine bitartrate
Trade Name: CYSTAGON
Product Name: Cystagon
INN or Proposed INN: Cystagon
Other descriptive name: Cysteamine bitartrate
Trade Name: CYSTAGON
Product Name: Cystagon
INN or Proposed INN: Cystagon
Other descriptive name: Cysteamine bitartrate
Raptor Therapeutics Inc.NULLNot RecruitingFemale: yes
Male: yes
60Phase 3France;United States;Belgium;Netherlands;Germany;United Kingdom;Italy
449EUCTR2010-023953-12-IT
(EUCTR)
28/01/201424/09/2013Safety, Efficacy, and Pharmacokinetics Study of Recombinant Human Acid Sphingomyelinase in Patients With Acid Sphingomyelinase DeficiencyA Phase 2, Multi-Center, Randomized, Open-Label, Repeat Dose, Dose-Comparison Study to Evaluate the Safety, Efficacy, and Pharmacokinetics of Recombinant Human Acid Sphingomyelinase in Patients With Acid Sphingomyelinase Deficiency - ASCEND Patients with acid sphingomyelinase deficiency (Niemann-Pick Type B disease)
MedDRA version: 16.0;Level: LLT;Classification code 10041515;Term: Sphingomyelin lipidosis;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: rhASM
Product Code: GZ402665
Other descriptive name: RECOMBINANT HUMAN ACID SPHINGOMYELINASE (rhASM)
Genzyme CorporationNULLNot RecruitingFemale: yes
Male: yes
15Phase 2United States;France;Brazil;Chile;Tunisia;Germany;United Kingdom;Italy
450EUCTR2012-002773-64-GB
(EUCTR)
22/01/201426/02/2013Study comparing the effectiveness of cysteamine bitartrate delayed release capsules (RP103) to Cystagon in Patients with Cystinosis(Adults and Children 12 years and older).A Long-Term Open-Label, Safety and Superior Effectiveness Study ofCysteamine Bitartrate Delayed-release Capsules (RP103) in Patients with Cystinosis - Superiority, Safety and Efficacy Study of RP103 in Cystinosis Cystinosis
MedDRA version: 20.0;Level: PT;Classification code 10011777;Term: Cystinosis;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Trade Name: PROCYSBI
Product Name: Cysteamine bitartrate (INN: mercaptamine bitartrate )
Product Code: RP103
INN or Proposed INN: mercaptamine bitartrate
Trade Name: PROCYSBI
Product Name: Cysteamine bitartrate (INN: mercaptamine bitartrate )
Product Code: RP103
INN or Proposed INN: mercaptamine bitartrate
Trade Name: Cystagon 50mg
Product Name: Cystagon
INN or Proposed INN: mercaptamine bitartrate
Trade Name: Cystagon 150mg
Product Name: Cystagon
INN or Proposed INN: mercaptamine bitartrate
Horizon Pharma USA, Inc.NULLNot RecruitingFemale: yes
Male: yes
60Phase 3France;United States;Belgium;Netherlands;Germany;Italy;United Kingdom
451EUCTR2012-002773-64-BE
(EUCTR)
21/01/201419/04/2013A Long-Term Open-Label, Safety and Superior Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Patients with CystinosisA Long-Term Open-Label, Safety and Superior Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Patients with Cystinosis - RP103-07 Cystinosis
MedDRA version: 14.1;Level: PT;Classification code 10011777;Term: Cystinosis;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Cysteamine bitartrate (INN: mercaptamine bitartrate )
Product Code: RP103
INN or Proposed INN: mercaptamine bitartrate
Product Name: Cysteamine bitartrate (INN: mercaptamine bitartrate )
Product Code: RP103
INN or Proposed INN: mercaptamine bitartrate
Trade Name: Cystagon 50mg
Product Name: Cystagon
INN or Proposed INN: MERCAPTAMINE BITARTRATE
Trade Name: Cystagon 150mg
Product Name: Cystagon
INN or Proposed INN: MERCAPTAMINE BITARTRATE
Raptor Therapeutics Inc.NULLNot RecruitingFemale: yes
Male: yes
60Phase 3United States;France;Belgium;Netherlands;Germany;United Kingdom;Italy
452EUCTR2013-003450-24-ES
(EUCTR)
16/01/201412/11/2013Safety and Efficacy Study of HGT-1410 Administration in Pediatric Patients with Early Stage of Sanfilippo Syndrome Type AA Randomized, Controlled, Open-label, Multicenter, Phase IIb Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration via an Intrathecal Drug Delivery Device in Pediatric Patients with Early Stage Mucopolysaccharidosis Type III A Disease Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 14.1;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 14.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: heparán N sulfatasa humana recombinante (rhHNS)
Product Code: HGT-1410
INN or Proposed INN: No disponible
Other descriptive name: Heparán N sulfatasa humana recombinante
Shire Human Genetic Therapies, IncNULLNot RecruitingFemale: yes
Male: yes
18Phase 2France;United States;Argentina;Spain;Germany;Netherlands;Italy;United Kingdom
453EUCTR2013-003450-24-GB
(EUCTR)
08/01/201408/11/2013Safety and Efficacy Study of HGT-1410 Administration in Pediatric Patients with Early Stage of Sanfilippo Syndrome Type AA Randomized, Controlled, Open-label, Multicenter, Phase IIb Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration via an Intrathecal Drug Delivery Device in Pediatric Patients with Early Stage Mucopolysaccharidosis Type III A Disease Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 19.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 19.0;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Recombinant human heparan N-sulfatase (rhHNS)
Product Code: HGT-1410
INN or Proposed INN: Not available
Other descriptive name: Recombinant human heparan N-sulfatase
Shire Human Genetic Therapies, IncNULLNot Recruiting Female: yes
Male: yes
18 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noFrance;United States;Argentina;Brazil;Spain;Netherlands;Germany;Italy;United Kingdom
454NCT01917708
(ClinicalTrials.gov)
January 201424/7/2013Bone Marrow Transplant With Abatacept for Non-Malignant DiseasesAbatacept for Post-Transplant Immune Suppression in Children and Adolescents Receiving Allogeneic Hematopoietic Stem Cell Transplants for Non-Malignant DiseasesHurler Syndrome;Fanconi Anemia;Glanzmann Thrombasthenia;Wiskott-Aldrich Syndrome;Chronic Granulomatous Disease;Severe Congenital Neutropenia;Leukocyte Adhesion Deficiency;Shwachman-Diamond Syndrome;Diamond-Blackfan Anemia;Dyskeratosis-congenita;Chediak-Higashi Syndrome;Severe Aplastic Anemia;Thalassemia Major;Hemophagocytic Lymphohistiocytosis;Sickle Cell DiseaseDrug: AbataceptEmory UniversityNULLCompletedN/A21 YearsAll10Phase 1United States
455EUCTR2010-023953-12-FR
(EUCTR)
23/12/201329/09/2015Safety, Efficacy, and Pharmacokinetics Study of Recombinant Human Acid Sphingomyelinase in Patients With Acid Sphingomyelinase DeficiencyA Phase 2, Multi-Center, Randomized, Open-Label, Repeat Dose, Dose-Comparison Study to Evaluate the Safety, Efficacy, and Pharmacokinetics of Recombinant Human Acid Sphingomyelinase in Patients With Acid Sphingomyelinase Deficiency Patients with acid sphingomyelinase deficiency (Niemann-Pick Type B disease)
MedDRA version: 18.0;Level: LLT;Classification code 10041515;Term: Sphingomyelin lipidosis;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: rhASM
Product Code: GZ402665
Other descriptive name: RECOMBINANT HUMAN ACID SPHINGOMYELINASE (rhASM)
Genzyme CorporationNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
15Phase 2United States;France;Brazil;Chile;Germany;Tunisia;Italy;United Kingdom
456EUCTR2013-000051-40-GB
(EUCTR)
16/12/201322/07/2013A Long-Term Study of Recombinant Human Acid Sphingomyelinase in Patients With Acid Sphingomyelinase DeficiencyA Long-Term Study to Assess the Ongoing Safety and Efficacy of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Patients with acid sphingomyelinase deficiency (Niemann-Pick Type B disease)
MedDRA version: 20.1;Level: LLT;Classification code 10041515;Term: Sphingomyelin lipidosis;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Olipudase alfa (rhASM)
Product Code: GZ402665
INN or Proposed INN: Olipudase alfa
Other descriptive name: RECOMBINANT HUMAN ACID SPHINGOMYELINASE (rhASM)
Genzyme CorporationNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
25Phase 2United States;France;Belgium;Brazil;Germany;Italy;United Kingdom
457EUCTR2010-023953-12-GB
(EUCTR)
16/12/201326/07/2013Safety, Efficacy, and Pharmacokinetics Study of Recombinant Human Acid Sphingomyelinase in Patients With Acid Sphingomyelinase DeficiencyA Phase 2, Multi-Center, Randomized, Open-Label, Repeat Dose, Dose-Comparison Study to Evaluate the Safety, Efficacy, and Pharmacokinetics of Recombinant Human Acid Sphingomyelinase in Patients With Acid Sphingomyelinase Deficiency Patients with acid sphingomyelinase deficiency (Niemann-Pick Type B disease)
MedDRA version: 17.1;Level: LLT;Classification code 10041515;Term: Sphingomyelin lipidosis;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: rhASM
Product Code: GZ402665
Other descriptive name: RECOMBINANT HUMAN ACID SPHINGOMYELINASE (rhASM)
Genzyme CorporationNULLNot RecruitingFemale: yes
Male: yes
15Phase 2France;United States;Brazil;Chile;Germany;Tunisia;Italy;United Kingdom
458NCT02004704
(ClinicalTrials.gov)
December 4, 201326/11/2013A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase DeficiencyA Long-Term Study to Assess the Ongoing Safety and Efficacy of Olipudase Alfa in Patients With Acid Sphingomyelinase DeficiencySphingomyelin LipidosisDrug: GZ402665Genzyme, a Sanofi CompanyNULLActive, not recruitingN/AN/AAll25Phase 2United States;Belgium;Brazil;France;Germany;Italy;United Kingdom
459NCT01981720
(ClinicalTrials.gov)
December 20135/11/2013Extension Study of PRX-102 for up to 60 MonthsA Multi Center Extension Study of PRX-102 Administered by Intravenous Infusions Every 2 Weeks for up to 60 Months to Adult Fabry PatientsFabry DiseaseBiological: PRX-102 (pegunigalsidase alfa)ProtalixNULLCompleted18 YearsN/AAll15Phase 1/Phase 2United States;Paraguay;Spain;United Kingdom
460EUCTR2013-002885-38-ES
(EUCTR)
26/11/201308/10/2013Peadiatric study of Idursulfase-IT with Elaprase® in patients with Hunter Syndrome and early cognitive impairmentA Controlled,Randomized,Two-arm,Open-label,Assessor-blinded,Multicenter Study of Intrathecal Idursulfase-IT Administered in Conjunction with Elaprase® in Pediatric Patients with Hunter Syndrome and early Cognitive Impairment. Treatment of Hunter syndrome and cognitive impairment
MedDRA version: 16.0;Level: PT;Classification code 10056889;Term: Mucopolysaccharidosis II;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Idursulfase-IT
Product Code: HGT-2310
INN or Proposed INN: IDURSULFASA
Other descriptive name: idursulfase-IT
Shire HGT IncNULLNot RecruitingFemale: no
Male: yes
42Phase 2;Phase 3United States;Mexico;Argentina;Spain;United Kingdom
461EUCTR2013-002554-78-ES
(EUCTR)
26/11/201320/09/2013An Extension of the PB102F01 study: A clinical study in patients with Fabry disease to assess the safety, tolerability, and the body processing of the medication PRX102, which will be given as an infusion.An Extension of Phase 1/2, Open Label, Dose Ranging Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Exploratory Efficacy Parameters of PRX-102 Administered by Intravenous Infusion Every 2 Weeks for 38 Weeks (9 Months) to Adult Fabry Patients Fabry disease
MedDRA version: 14.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: PRX102
Product Code: PRX102
INN or Proposed INN: PRX102
Product Name: PRX102
Product Code: PRX102
INN or Proposed INN: PRX102
Product Name: PRX102
Product Code: PRX102
INN or Proposed INN: PRX102
Protalix Ltd.NULLNot RecruitingFemale: yes
Male: yes
18Phase 1;Phase 2United States;Serbia;Paraguay;Spain;Australia;Israel;United Kingdom
462EUCTR2012-004786-40-ES
(EUCTR)
13/11/201305/09/2013Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Exploratory Efficacy Parameters of PRX-102 Administered by Intravenous Infusion to Adult Fabry PatientsA Phase 1/2, Open Label, Dose Ranging Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Exploratory Efficacy Parameters of PRX-102 Administered by Intravenous Infusion Every 2 Weeks for 12 Weeks to Adult Fabry Patients Fabry disease
MedDRA version: 16.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: PRX102
Product Code: PRX102
INN or Proposed INN: PRX102
Product Name: PRX102
Product Code: PRX102
INN or Proposed INN: PRX102
Product Name: PRX102
Product Code: PRX102
INN or Proposed INN: PRX102
Protalix Ltd.NULLNot RecruitingFemale: yes
Male: yes
18Phase 1/2United States;Serbia;Paraguay;Argentina;Spain;Australia;Israel;United Kingdom
463EUCTR2013-002885-38-GB
(EUCTR)
22/10/201311/09/2013Peadiatric study of Idursulfase-IT with Elaprase® in patients with Hunter Syndrome and early cognitive impairmentA Controlled,Randomized,Two-arm,Open-label,Assessor-blinded,Multicenter Study of Intrathecal Idursulfase-IT Administered in Conjunction with Elaprase® in Pediatric Patients with Hunter Syndrome and Early Cognitive Impairment. Long-term treatment of Hunter syndrome and cognitive impairment
MedDRA version: 20.0;Level: PT;Classification code 10056889;Term: Mucopolysaccharidosis II;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Idursulfase-IT
Product Code: HGT-2310
INN or Proposed INN: IDURSULFASE
Other descriptive name: idursulfase-IT
Shire HGT IncNULLNot Recruiting Female: no
Male: yes
54 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): noFrance;United States;Mexico;Canada;Argentina;Spain;Australia;Germany;Colombia;United Kingdom
464EUCTR2011-004800-40-BE
(EUCTR)
07/10/201329/08/2013A Study using Migalastat to see the safety and usefulness of the drug in patients with Fabry Disease.An Open-Label Extension Study to Evaluate the Long Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in Subjects with Fabry Disease. Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the gene (GLA) that encodes the lysosomal enzyme a-galactosidase A.
MedDRA version: 17.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03]
Product Name: Migalastat Hydrochloride
Product Code: AT1001
INN or Proposed INN: Migalastat Hydrochloride
Other descriptive name: GR181413A
Amicus Therapeutics, Inc.NULLNot RecruitingFemale: yes
Male: yes
100Phase 3United States;Spain;Turkey;Austria;Italy;United Kingdom;Egypt;France;Canada;Argentina;Belgium;Brazil;Australia;Denmark
465NCT03300453
(ClinicalTrials.gov)
September 17, 201315/6/2016Intracerebral Gene Therapy in Children With Sanfilippo Type B SyndromeProtocol AMT110-CD-001: A Phase I/II, Open-label, Study of Intracerebral Administration of Adeno-associated Viral Vector Containing the Human Alpha-N-acetylglucosaminidase cDNA in Children With Sanfilippo Type B SyndromeSanfilippo Syndrome BDrug: rAAV2/5-hNAGLUUniQure Biopharma B.V.Venn Life Sciences;Institut PasteurCompleted18 Months60 MonthsAll4Phase 1/Phase 2France
466EUCTR2012-003775-20-DE
(EUCTR)
11/09/201314/12/2012A safety and efficacy extension of study HGT-MLD-070 in Children with Metachromatic Leukodystrophy recieving enzyme (HGT-1110) replacement by intrathecal injectionAn Open-label Extension of Study HGT-MLD-070 Evaluating Long Term Safety and Efficacy of Intrathecal Administration of HGT-1110 in Patients with Metachromatic Leukodystrophy Treatment of Metachromatic Leukodystrophy
MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Code: SHP611
INN or Proposed INN: Not available
Other descriptive name: Recombinant Human Arylsulfatase A (rhASA)
Shire Human Genetics Therapies IncNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
24Phase 1;Phase 2France;Czechia;Czech Republic;Brazil;Denmark;Australia;Germany;United Kingdom;Italy;Japan
467EUCTR2012-005430-11-DE
(EUCTR)
11/09/201310/04/2013Phase 1/2 study to evaluate safety and efficacy of BMN 190 in patients with CLN2A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 190 in Patients with Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2) Disease Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2)
MedDRA version: 17.1;Level: LLT;Classification code 10052074;Term: Neuronal ceroid lipofuscinosis NOS;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Name: N/A
Product Code: BMN 190
INN or Proposed INN: TBD
Other descriptive name: recombinant human tripeptidyl peptidase-1
BioMarin Pharmaceutical Inc.NULLNot RecruitingFemale: yes
Male: yes
22Phase 1;Phase 2Germany;United Kingdom
468NCT01907087
(ClinicalTrials.gov)
September 201319/7/2013A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 190 in Patients With Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2) DiseaseA Phase 1/2 Open-Label Dose-Escalation Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 190 in Patients With Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) DiseaseJansky-Bielschowsky Disease;Batten Disease;Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2;CLN2 DiseaseBiological: BMN 190BioMarin PharmaceuticalNULLCompleted3 Years15 YearsAll24Phase 1/Phase 2United States;Germany;Italy;United Kingdom
469EUCTR2013-002554-78-GB
(EUCTR)
29/08/201309/09/2013An Extension of the PB-102-F01 study: A clinical study in patients with Fabry disease to assess the safety, tolerability, and the body processing of the medication PRX102, which will be given as an infusion.An Extension of Phase 1/2, Open-Label, Dose Ranging Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Exploratory Efficacy Parameters of PRX-102 Administered by Intravenous Infusion Every 2 Weeks for 38 Weeks (9 Months) to Adult Fabry Patients - PB-102-F02: Extension of the PB-102-F01 study (PRX-102 for ERT in Fabry Disease) Fabry disease
MedDRA version: 16.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: PRX-102
Product Code: PRX-102
INN or Proposed INN: PRX-102
Protalix Ltd.NULLNot RecruitingFemale: yes
Male: yes
18Phase 1;Phase 2United States;Paraguay;Argentina;Spain;Australia;Israel;Chile;United Kingdom
470EUCTR2012-002773-64-NL
(EUCTR)
15/08/201301/11/2013Study comparing the effectiveness of cysteamine bitartrate delayed-release capsules (RP103) in Patients with Cystinosis (Adult and Children 12 years and older)A Long-Term Open-Label, Safety and Superior Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Patients with Cystinosis - Superiority, Safety and Efficacy Study of RP103 in Cystinosis Cystinosis
MedDRA version: 20.0;Level: PT;Classification code 10011777;Term: Cystinosis;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Trade Name: PROCYSBI
Product Name: Cysteamine bitartrate (INN: mercaptamine bitartrate)
Product Code: RP103
INN or Proposed INN: mercaptamine bitartrate
Trade Name: PROCYSBI
Product Name: Cysteamine bitartrate (INN: mercaptamine bitartrate)
Product Code: RP103
INN or Proposed INN: mercaptamine bitartrate
Trade Name: Cystagon 50mg
Product Name: Cystagon
INN or Proposed INN: mercaptamine bitartrate
Trade Name: Cystagon 150mg
Product Name: Cystagon
INN or Proposed INN: mercaptamine bitartrate
Horizon Pharma USA, Inc.NULLNot RecruitingFemale: yes
Male: yes
60Phase 3France;United States;Belgium;Germany;Netherlands;Italy;United Kingdom
471EUCTR2012-005430-11-GB
(EUCTR)
15/08/201308/04/2013Phase 1/2 study to evaluate safety and efficacy of BMN 190 in patients with CLN2A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 190 in Patients with Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2) Disease Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2).
MedDRA version: 18.0;Level: LLT;Classification code 10052074;Term: Neuronal ceroid lipofuscinosis NOS;System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Name: N/A
Product Code: BMN 190
INN or Proposed INN: cerliponase alfa
Other descriptive name: recombinant human tripeptidyl peptidase-1
BioMarin Pharmaceutical Inc.NULLNot Recruiting Female: yes
Male: yes
24 Human pharmacology (Phase 1): yes Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noUnited States;Germany;Italy;United Kingdom
472EUCTR2013-001152-35-GB
(EUCTR)
02/08/201325/06/2013A safety and efficacy study in MPS 7 patients receiving enzyme (UX003) replacement by intravenous injectionAn Open-Label Phase 1/2 Study to Assess the Safety, Efficacy and Dose of UX003 rhGUS Enzyme Replacement Therapy in Patients with MPS 7 Mucopolysaccharidosis type 7 (MPS 7, Sly syndrome);Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]Product Name: Recombinant human beta-glucuronidase
Product Code: UX003
INN or Proposed INN: Not available
Other descriptive name: RECOMBINANT HUMAN BETA GLUCURONIDASE; RHGUS
Ultragenyx Pharmaceutical Inc.NULLNot Recruiting Female: yes
Male: yes
5 Human pharmacology (Phase 1): yes Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noSpain;United Kingdom
473NCT01908712
(ClinicalTrials.gov)
August 201316/7/2013Lamazym Aftercare Study FR Designed to Provide Treatment for French PatientsA Multi-center, Un-controlled, Open-labeled Trial of the Long-term Safety of Lamazym Aftercare Treatment of Subjects With Alpha-Mannosidosis Whom Previously Participated in Lamazym TrialsAlpha-MannosidosisDrug: LamazymChiesi Farmaceutici S.p.A.NULLCompletedN/AN/AAll13Phase 3France
474EUCTR2012-000979-17-SE
(EUCTR)
30/07/201307/06/2013A Placebo-Controlled phase 3 trial of repeated Lamazym treatment of subjects with Alpha-MannosidosisA Multi-Center, Double-Blind, Randomized, Placebo-Controlled, Parallel Group Trial, Investigating the Efficacy and Safety of Repeated Lamazym Treatment of Subjects with alpha-Mannosidosis - Phase III Treatement of Alpha-Mannosidosis;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]Product Name: Lamazym
Product Code: rhLAMAN
INN or Proposed INN: Lamazym
Other descriptive name: recombinant human alpha-mannosidase
Zymenex A/SNULLNot RecruitingFemale: yes
Male: yes
25Phase 3Spain;Belgium;Denmark;Germany;Sweden
475EUCTR2010-020199-45-ES
(EUCTR)
23/07/201309/04/2013A Phase 3 Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome)A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome)Extensión de un estudio multicéntrico, multinacional para evaluar la eficacia y seguridad a largo plazo de BMN 110 en pacientes con mucopolisacaridosis IVA (síndrome de Morquio A) Mucopolysaccharidosis Type IVA
MedDRA version: 16.0;Level: PT;Classification code 10028095;Term: Mucopolysaccharidosis IV;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: recombinant human N-acetylgalactosamine-6-sulfatase (rhGALNS)
Product Code: BMN 110
INN or Proposed INN: Not Available
Other descriptive name: recombinant human N-acetylgalactosamine-6-sulfatase, BMN 110
BioMarin Pharmaceutical Inc.NULLNot RecruitingFemale: yes
Male: yes
162Phase 3Portugal;United States;Qatar;Saudi Arabia;Taiwan;Spain;Colombia;Italy;United Kingdom;France;Canada;Argentina;Brazil;Denmark;Australia;Netherlands;Germany;Norway;Japan;Korea, Republic of
476EUCTR2011-002750-31-HR
(EUCTR)
17/07/201321/05/2014A study of SBC-102 (enzyme replacement therapy) in patients with lysosomal acid lipase deficiencyA multicenter, randomized, placebo-controlled study of SBC-102 in patients with lysosomal acid lipase deficiency - ARISE (Acid Lipase Replacement Investigating Safety and Efficacy) Lysosomal Acid Lipase Deficiency
MedDRA version: 17.0;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: sebelipase alfa
Product Code: SBC-102
INN or Proposed INN: NA
Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Synageva BioPharma CorporationNULLNot RecruitingFemale: yes
Male: yes
55Phase 3Taiwan;Greece;Spain;Ukraine;Israel;Chile;Russian Federation;Italy;France;Cyprus;Denmark;Australia;South Africa;Netherlands;Turkey;United Kingdom;Czech Republic;Mexico;Argentina;Brazil;Belgium;Poland;Croatia;Romania;Germany;Sweden
477EUCTR2011-000032-28-IE
(EUCTR)
12/07/201316/05/2013A research study to look at the safety, effectiveness and the effects on the body of a new drug, SBC-102, in children with growth problems caused by a deficiency in the enzyme that breaks down fatsAn Open Label, Multicenter, Dose Escalation Study to Evaluate the Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of SBC-102 in Children with Growth Failure Due to Lysosomal Acid Lipase Deficiency - SBC-102 in Children with Growth Failure Due to Lysosomal Acid Lipase D Growth failure in children due to lysosomal acid lipase deficiency (Wolman disease).
MedDRA version: 19.0;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850
MedDRA version: 19.0;Level: HLGT;Classification code 10021605;Term: Inborn errors of metabolism;System Organ Class: 10027433 - Metabolism and nutrition disorders
MedDRA version: 19.0;Level: SOC;Classification code 10027433;Term: Metabolism and nutrition disorders;System Organ Class: 10027433 - Metabolism and nutrition disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: sebelipase alfa
Product Code: SBC-102, recombinant human lysosomal acid lipase
INN or Proposed INN: sebelipase alfa
Other descriptive name: recombinant human lysosomal acid lipase (rhLAL)
Alexion Pharmaceuticals Inc.NULLNot RecruitingFemale: yes
Male: yes
10Phase 2;Phase 3France;Egypt;United States;Saudi Arabia;Taiwan;Ireland;Turkey;Germany;Italy;United Kingdom
478NCT01966029
(ClinicalTrials.gov)
July 201310/9/2013BMN 110 Phase 3B in Australian PatientsA Multicenter Open-Label, Phase 3B Study to Evaluate the Efficacy and Safety of BMN 110 in Australian Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome)Mucopolysaccharidosis IVA (Morquio A Syndrome)Drug: BMN 110BioMarin PharmaceuticalNULLCompletedN/AN/AAll13Phase 3Australia
479EUCTR2013-000336-97-FR
(EUCTR)
26/06/201328/09/2015A trial of the long-term safety of Lamazym aftercare treatment of subjects with alpha-Mannosidosis who previously participated in Lamazym-trialsA multi-center, un-controlled, open-labeled trial of the long-term safety of Lamazym aftercare treatment of subjects with alpha-Mannosidosis who previously participated in Lamazym-trials Treatment of Alpha-Mannosidosis;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]Product Name: Lamazym
Product Code: rhLAMAN
INN or Proposed INN: recombinant human lysosomal alpha-mannosidase
Other descriptive name: LAMAZYM
Zymenex A/SNULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
7 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): noFrance;Denmark
480EUCTR2011-002750-31-GR
(EUCTR)
26/06/201315/05/2013A study of SBC-102 (enzyme replacement therapy) in patients with lysosomal acid lipase deficiencyA multicenter, randomized, placebo-controlled study of SBC-102 in patients with lysosomal acid lipase deficiency - ARISE (Acid Lipase Replacement Investigating Safety and Efficacy) Lysosomal Acid Lipase Deficiency
MedDRA version: 16.0;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: sebelipase alfa
Product Code: SBC-102
INN or Proposed INN: NA
Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Synageva BioPharma CorporationNULLNot Recruiting Female: yes
Male: yes
55 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): noTaiwan;Greece;Spain;Ukraine;Russian Federation;Chile;Israel;Italy;France;Cyprus;Australia;Denmark;South Africa;Netherlands;Turkey;United Kingdom;Czech Republic;Mexico;Argentina;Poland;Belgium;Brazil;Romania;Croatia;Germany;Sweden
481JPRN-UMIN000009758
2013/06/2415/01/2013Development of treosulfan-based conditioning regimen for congenital metabolic diseases; Phase I studyDevelopment of treosulfan-based conditioning regimen for congenital metabolic diseases; Phase I study - Development of treosulfan-based conditioning regimen for congenital metabolic diseases; Phase I study Mucopolysaccharidosis type I (Herler syndrome), type II (Hunter syndrome)Treosulfan 14 g/m2, intravenous,
day -6 -5 -4
Tokai University School of Medicine1. School of Human Health Science Faculty of Medicine Kyoto University2. Department of Pediatrics, Japanese Red cross Nagoya Daiichi Hospital3. Department of Pediatrics, Nihon UniversityComplete: follow-up completeNot applicableNot applicableMale and Female12Phase 1Japan
482EUCTR2013-000321-31-DK
(EUCTR)
07/06/201307/06/2013A long-term safety trial of repeated Velmanase Alfa treatment of subjects with Alpha-MannosidosisA multi-center, un-controlled, open-labeled trial of the long-term safety of Velmanase Alfa aftercaretreatment of subjects with alpha-Mannosidosis whom previously participated in Velmanase Alfa - trials - Phase IIIb Treatement of Alpha-Mannosidosis
MedDRA version: 20.0;Level: LLT;Classification code 10032658;Term: Other specified disorders of carbohydrate transport and metabolism;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Velmanase Alfa
Product Code: rhLAMAN
INN or Proposed INN: velmanase alfa
Other descriptive name: recombinant human alpha-mannosidase
Chiesi Farmaceutici S.p.A.NULLNot RecruitingFemale: yes
Male: yes
8Phase 3Poland;Denmark
483EUCTR2012-002773-64-FR
(EUCTR)
03/06/201328/09/2015A Long-Term Open-Label, Safety and Superior Effectiveness Study ofCysteamine Bitartrate Delayed-release Capsules (RP103) in Patients withCystinosisA Long-Term Open-Label, Safety and Superior Effectiveness Study ofCysteamine Bitartrate Delayed-release Capsules (RP103) in Patients withCystinosis - RP103-07 Cystinosis
MedDRA version: 18.0;Level: PT;Classification code 10011777;Term: Cystinosis;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Cysteamine bitartrate (INN: mercaptamine bitartrate )
Product Code: RP103
INN or Proposed INN: mercaptamine bitartrate
Trade Name: Cystagon
Product Name: Cystagon
INN or Proposed INN: MERCAPTAMINE bitartrate
Raptor Therapeutics Inc.NULLNot RecruitingFemale: yes
Male: yes
60Phase 3United States;France;Belgium;Netherlands;Italy;United Kingdom
484NCT01908725
(ClinicalTrials.gov)
June 201312/6/2013Lamazym Aftercare StudyA Single-center, Un-controlled, Open-labeled Trial of the Long-term Safety of Lamazym Aftercare Treatment of Subjects With Alpha-Mannosidosis Whom Previously Participated in Lamazym TrialsAlpha-MannosidosisDrug: LamazymChiesi Farmaceutici S.p.A.NULLCompletedN/AN/AAll8Phase 3Denmark
485EUCTR2011-000032-28-DE
(EUCTR)
31/05/201328/06/2011A research study to look at the safety, effectiveness and the effects on the body of a new drug, SBC-102, in children with growth problems caused by a deficiency in the enzyme that breaks down fatsAn Open Label, Multicenter, Dose Escalation Study to Evaluate the Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of SBC-102 in Children with Growth Failure Due to Lysosomal Acid Lipase Deficiency - SBC-102 in Children with Growth Failure Due to Lysosomal Acid Lipase Deficiency Growth failure in children due to lysosomal acid lipase deficiency (Wolman disease).
MedDRA version: 15.1;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850
MedDRA version: 15.1;Level: HLGT;Classification code 10021605;Term: Inborn errors of metabolism;System Organ Class: 10027433 - Metabolism and nutrition disorders
MedDRA version: 15.1;Level: SOC;Classification code 10027433;Term: Metabolism and nutrition disorders;System Organ Class: 10027433 - Metabolism and nutrition disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Sebelipase alfa
Product Code: SBC-102, recombinant human lysosomal acid lipase
INN or Proposed INN: sebelipase alfa
Other descriptive name: recombinant human lysosomal acid lipase (rhLAL)
Synageva Biopharma Corp.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
10United States;France;Taiwan;Germany;United Kingdom;Italy
486EUCTR2011-002750-31-DE
(EUCTR)
29/05/201329/01/2013A study of SBC-102 (enzyme replacement therapy) in patients with lysosomal acid lipase deficiencyA multicenter, randomized, placebo-controlled study of SBC-102 in patients with lysosomal acid lipase deficiency - ARISE (Acid Lipase Replacement Investigating Safety and Efficacy) Lysosomal Acid Lipase Deficiency
MedDRA version: 20.0;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004915 ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Trade Name: Kanuma
Product Name: sebelipase alfa
Product Code: SBC-102
INN or Proposed INN: NA
Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Alexion Pharmaceuticals, Inc.NULLNot Recruiting Female: yes
Male: yes
55 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): noUnited States;Taiwan;Greece;Spain;Ukraine;Russian Federation;Chile;Israel;Italy;France;Cyprus;Australia;Denmark;South Africa;Netherlands;Turkey;United Kingdom;Czech Republic;Mexico;Argentina;Poland;Brazil;Belgium;Romania;Croatia;Germany;Japan;Sweden
487NCT01887938
(ClinicalTrials.gov)
May 23, 201320/6/2013An Efficacy and Safety Study of HGT-1110 in Participants With Metachromatic LeukodystrophyAn Open-Label Extension of Study HGT-MLD-070 Evaluating Long Term Safety and Efficacy of Intrathecal Administration of HGT-1110 in Patients With Metachromatic LeukodystrophyMetachromatic Leukodystrophy (MLD)Biological: HGT-1110ShireNULLActive, not recruitingN/A13 YearsAll24Phase 1/Phase 2Australia;Brazil;Czechia;Denmark;France;Germany;Japan;Argentina;Czech Republic
488EUCTR2012-004786-40-GB
(EUCTR)
10/05/201307/01/2013A clinical study in patients with Fabry disease to assess the safety, tolerability, and the body processing of the medication PRX-102, which will be given as an infusionA Phase 1/2, Open Label, Dose Ranging Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Exploratory Efficacy Parameters of PRX-102 Administered by Intravenous Infusion Every 2 Weeks for 12 Weeks to Adult Fabry Patients - PB-102-F01: PRX-102 for ERT in patients with Fabry disease Fabry disease
MedDRA version: 17.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: PRX-102
Product Code: PRX-102
INN or Proposed INN: PRX-102
Protalix Ltd.NULLNot RecruitingFemale: yes
Male: yes
18Phase 1/2United States;Paraguay;Argentina;Spain;Australia;Israel;Chile;United Kingdom
489EUCTR2011-002750-31-ES
(EUCTR)
06/05/201306/03/2013A study of SBC-102 (enzyme replacement therapy) in patients with lysosomal acid lipase deficiencyA multicenter, randomized, placebo-controlled study of SBC-102 in patients with lysosomal acid lipase deficiency - ARISE (Acid Lipase Replacement Investigating Safety and Efficacy) Lysosomal Acid Lipase Deficiency
MedDRA version: 15.1;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: sebelipase alfa
Product Code: SBC-102
INN or Proposed INN: NA
Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Synageva BioPharma CorporationNULLNot RecruitingFemale: yes
Male: yes
55Phase 3Taiwan;Greece;Spain;Ukraine;Russian Federation;Chile;Israel;Italy;France;Cyprus;Australia;Denmark;South Africa;Netherlands;Turkey;United Kingdom;Czech Republic;Mexico;Argentina;Belgium;Poland;Brazil;Romania;Croatia;Germany;Sweden
490NCT01839526
(ClinicalTrials.gov)
May 201311/4/2013A Study of Renal Function in Treatment-naïve, Young Male Patients With Fabry DiseaseA Cross-sectional Study of Renal Function in Treatment-naïve, Young Male Patients With Fabry DiseaseFabry DiseaseDrug: IohexolGenzyme, a Sanofi CompanyNULLTerminated5 Years25 YearsMale39N/AUnited States;Argentina;Austria;Belgium;Brazil;Canada;Finland;France;Hungary;Norway;Poland;Spain;Taiwan;United Kingdom
491NCT02053064
(ClinicalTrials.gov)
May 201316/1/2014Long-term Follow-up of Sanfilippo Type A Patients Treated by Intracerebral SAF-301 Gene TherapyLong-term Follow-up of Patients With Sanfilippo Type A Syndrome Who Have Previously Been Treated in the P1-SAF-301 Clinical Study Evaluating the Tolerability and Safety of the Intracerebral Administration of SAF-301.Mucopolysaccharidosis Type III A;Sanfilippo Disease Type AGenetic: SAF-301LYSOGENENULLCompletedN/AN/AAll4Phase 1/Phase 2France
492EUCTR2012-003775-20-DK
(EUCTR)
30/04/201321/12/2012A safety and efficacy extension of study HGT-MLD-070 in Children with Metachromatic Leukodystrophy recieving enzyme (HGT-1110) replacement by intrathecal injectionAn Open-label Extension of Study HGT-MLD-070 Evaluating Long Term Safety and Efficacy of Intrathecal Administration of HGT-1110 in Patients with Metachromatic Leukodystrophy Treatment of Metachromatic Leukodystrophy
MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Code: SHP611
INN or Proposed INN: Not available
Other descriptive name: Recombinant Human Arylsulfatase A (rhASA)
Shire Human Genetics Therapies IncNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
24Phase 1;Phase 2France;Czechia;Czech Republic;Brazil;Australia;Denmark;Germany;United Kingdom;Italy;Japan
493EUCTR2011-002750-31-IT
(EUCTR)
15/04/201325/02/2013A study of SBC-102 (enzyme replacement therapy) in patients with lysosomal acid lipase deficiencyA multicenter, randomized, placebo-controlled study of SBC-102 in patients with lysosomal acid lipase deficiency - ARISE (Acid Lipase Replacement Investigating Safety and Efficacy) Lysosomal Acid Lipase Deficiency
MedDRA version: 14.1;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: sebelipase alfa
Product Code: SBC-102
INN or Proposed INN: NA
Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Synageva BioPharma CorporationNULLNot RecruitingFemale: yes
Male: yes
55Phase 3Taiwan;Greece;Spain;Ukraine;Chile;Israel;Russian Federation;Italy;France;Cyprus;Denmark;Australia;South Africa;Netherlands;Turkey;United Kingdom;Czech Republic;Mexico;Argentina;Brazil;Belgium;Poland;Croatia;Romania;Germany;Sweden
494NCT02021266
(ClinicalTrials.gov)
April 201319/12/2013Single Patient Expanded Access Protocol: Metabolic BoostSingle Patient Expanded Access Protocol: Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic DisordersMetachromatic LeukodystrophyBiological: Enriched Hematopoetic Stem Cell InfusionTalaris Therapeutics Inc.Duke UniversityNo longer availableN/AN/AFemalePhase 1/2United States
495NCT01586455
(ClinicalTrials.gov)
April 201325/4/2012Human Placental-Derived Stem Cell TransplantationA Single-Arm Study to Assess the Safety of Transplantation With Human Placental-Derived Stem-Cells Combined With Unrelated and Related Cord Blood in Subjects With Certain Malignant Hematologic Diseases and Non-Malignant DisordersMucopolysaccharidosis I;Mucopolysaccharidosis VI;Adrenoleukodystrophy;Niemann-Pick Disease;Metachromatic Leukodystrophy;Wolman Disease;Krabbe's Disease;Gaucher's Disease;Fucosidosis;Batten Disease;Severe Aplastic Anemia;Diamond-Blackfan Anemia;Amegakaryocytic Thrombocytopenia;Myelodysplastic Syndrome;Acute Myelogenous Leukemia;Acute Lymphocytic LeukemiaDrug: Human Placental Derived Stem CellNew York Medical CollegeNULLCompleted0 Years55 YearsAll43Phase 1United States
496EUCTR2012-000979-17-BE
(EUCTR)
26/03/201307/01/2013A Placebo-Controlled phase 3 trial of repeated Lamazym treatment of subjects with Alpha-MannosidosisA Multi-Center, Double-Blind, Randomized, Placebo-Controlled, Parallel Group Trial, Investigating the Efficacy and Safety of Repeated Lamazym Treatment of Subjects with alpha-Mannosidosis - Phase III Treatement of Alpha-Mannosidosis;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]Product Name: Lamazym
Product Code: rhLAMAN
INN or Proposed INN: recombinant human alpha-mannosidase
Other descriptive name: recombinant human alpha-mannosidase
Zymenex A/SNULLNot RecruitingFemale: yes
Male: yes
25Phase 3Spain;Belgium;Denmark;Germany;Sweden
497EUCTR2011-002750-31-GB
(EUCTR)
18/03/201311/02/2013A study of SBC-102 (enzyme replacement therapy) in patients with lysosomal acid lipase deficiencyA multicenter, randomized, placebo-controlled study of SBC-102 in patients with lysosomal acid lipase deficiency - ARISE (Acid Lipase Replacement Investigating Safety and Efficacy) Lysosomal Acid Lipase Deficiency
MedDRA version: 19.0;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Trade Name: KANUMA
Product Name: sebelipase alfa
Product Code: SBC-102
INN or Proposed INN: NA
Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Alexion Pharmaceuticals, Inc.NULLNot RecruitingFemale: yes
Male: yes
55Phase 3United States;Taiwan;Greece;Spain;Ukraine;Chile;Israel;Russian Federation;Italy;France;Cyprus;Denmark;Australia;South Africa;Netherlands;Turkey;United Kingdom;Czech Republic;Mexico;Argentina;Brazil;Belgium;Poland;Croatia;Romania;Germany;Japan;Sweden
498NCT01747980
(ClinicalTrials.gov)
March 20135/12/2012Safety and Pharmacokinetics of Oral PRX-112 in Gaucher Disease PatientsAn Exploratory, Open-label Study to Evaluate the Safety of PRX-112 and Pharmacokinetics of Oral prGCD (Plant Recombinant Human Glucocerebrosidase) in Gaucher PatientsGaucher DiseaseDrug: PRX-112ProtalixNULLCompleted18 YearsN/ABoth16Phase 1Israel
499NCT01842841
(ClinicalTrials.gov)
March 201311/4/2013Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher DiseaseA Multicenter, Open-label Extension Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher DiseaseGaucher DiseaseDrug: velaglucerase alfaShireQuintiles, Inc.Completed2 YearsN/AAll5Phase 3Japan
500NCT01769001
(ClinicalTrials.gov)
March 201314/1/2013An Extension of a Phase 1/2, Open Label, Dose Ranging Study of PRX-102 in Adult Fabry PatientsAn Extension of Open Label Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Exploratory Efficacy Parameters of PRX-102 Administered by Intravenous Infusion Every 2 Weeks for 38 Weeks to Adult Fabry PatientsFabry DiseaseDrug: PRX-102ProtalixNULLCompleted18 YearsN/AAll18Phase 1/Phase 2United States;Australia;Paraguay;Spain;United Kingdom
501NCT01722526
(ClinicalTrials.gov)
March 20135/11/2012Tolerability and Safety Study of Recombinant Human Acid Sphingomyelinase in Acid Sphingomyelinase Deficiency PatientsAn Open-label, Multicenter, Ascending Dose Study of the Tolerability and Safety of Recombinant Human Acid Sphingomyelinase (rhASM) in Patients With Acid Sphingomyelinase Deficiency (ASMD)Human Acid Sphingomyelinase DeficiencyDrug: Recombinant human acid sphingomyelinaseGenzyme, a Sanofi CompanyNULLCompleted18 Years65 YearsBoth5Phase 1United States;United Kingdom
502EUCTR2012-000979-17-ES
(EUCTR)
27/02/201309/01/2013A Placebo-Controlled phase 3 trial of repeated Lamazym treatment of subjects with Alpha-MannosidosisA Multi-Center, Double-Blind, Randomized, Placebo-Controlled, Parallel Group Trial, Investigating the Efficacy and Safety of Repeated Lamazym Treatment of Subjects with alpha-Mannosidosis - Phase III Treatment of Alpha-Mannosidosis;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]Product Name: Lamazym
Product Code: rhLAMAN
INN or Proposed INN: Lamazym
Other descriptive name: recombinant human alpha-mannosidase
Zymenex A/SNULLNot RecruitingFemale: yes
Male: yes
25Phase 3Spain;Denmark;Germany;Sweden;Belgium
503NCT01733316
(ClinicalTrials.gov)
January 31, 201316/11/2012Open-Label, Safety and Superior Effectiveness Study of Cysteamine Bitartrate Delayed-Release Capsules (RP103) in CystinosisA Long-Term, Open-Label, Safety, Tolerability and Superior Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Patients With CystinosisCystinosisDrug: RP103;Drug: Cystagon®Horizon Pharma USA, Inc.NULLCompleted12 YearsN/AAll41Phase 3United States;Belgium;France;Italy;Netherlands;United Kingdom
504NCT01757184
(ClinicalTrials.gov)
January 22, 201317/12/2012Acid Lipase Replacement Investigating Safety and Efficacy (ARISE) in Participants With Lysosomal Acid Lipase DeficiencyA Multicenter, Randomized, Placebo-controlled Study of SBC-102 in Patients With Lysosomal Acid Lipase DeficiencyLysosomal Acid Lipase DeficiencyDrug: Sebelipase Alfa;Drug: PlaceboAlexion PharmaceuticalsNULLCompleted4 YearsN/AAll66Phase 3United States;Argentina;Australia;Croatia;Czechia;France;Germany;Italy;Japan;Mexico;Poland;Russian Federation;Spain;Turkey;United Kingdom;Brazil;Canada;Czech Republic;Greece;Israel
505EUCTR2009-012564-13-FR
(EUCTR)
03/01/201319/06/2013Cysteamine Hydrochloride for nephrOpathic Cystinosis, open-label Phase III pivotal studyCysteamine Hydrochloride for nephropathic Cystinosis, open-label Phase III pivotal study - CYSTADROPS CHOC study Nephropatic cystinosis patients with cystine corneal deposits
MedDRA version: 16.0;Level: LLT;Classification code 10071112;Term: Nephropathic cystinosis;System Organ Class: 100000004850;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03]
Product Name: CYSTADROPS 0.55% eye drops, solution
INN or Proposed INN: CYSTEAMINE HYDROCHLORIDE
Other descriptive name: Mercaptamine hydrochloride
Orphan Europe SARLNULLNot RecruitingFemale: yes
Male: yes
Phase 3France
506NCT01744782
(ClinicalTrials.gov)
December 20, 20125/12/2012Safety/Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Cysteamine Treatment Naive Patients With CystinosisAn Open-Label, Safety and Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Cysteamine Treatment Naïve Patients With CystinosisCystinosisDrug: RP103Horizon Pharma USA, Inc.NULLCompletedN/A6 YearsAll17Phase 3United States;Brazil
507EUCTR2012-000979-17-DE
(EUCTR)
17/12/201209/07/2012A Placebo-Controlled phase 3 trial of repeated Lamazym treatment of subjects with Alpha-MannosidosisA Multi-Center, Double-Blind, Randomized, Placebo-Controlled, Parallel Group Trial, Investigating the Efficacy and Safety of Repeated Lamazym Treatment of Subjects with alpha-Mannosidosis - Phase III Treatement of Alpha-Mannosidosis;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]Product Name: Lamazym
Product Code: rhLAMAN
INN or Proposed INN: rhLAMAN
Other descriptive name: recombinant human alpha-mannosidase
Zymenex A/SNULLNot RecruitingFemale: yes
Male: yes
20Phase 3Spain;Belgium;Denmark;Germany;Sweden
508NCT01463215
(ClinicalTrials.gov)
December 201227/10/2011Clinical Trial of Ambroxol in Patients With Type I Gaucher DiseaseAn Open-Label, Dose Escalation With 2 Dose Levels, Proof-of-Concept Clinical Trial of Ambroxol for the Treatment of Type I Gaucher DiseaseType I Gaucher DiseaseDrug: AmbroxolExsar CorporationNULLSuspended16 YearsN/ABoth20Phase 1/Phase 2United States
509EUCTR2011-004410-42-FR
(EUCTR)
26/11/201219/12/2012Intracerebral Gene Therapy for MLDA phase I/II, open labeled, monocentric study of direct intracranial administration of a replication deficient adeno-associated virus gene transfer vector serotype rh.10 expressing the human ARSA cDNA to children with metachromatic leukodystrophy - Intracerebral Gene Therapy for MLD Early onset forms of MLD
MedDRA version: 14.1;Level: SOC;Classification code 10029205;Term: Nervous system disorders;System Organ Class: 10029205 - Nervous system disorders
MedDRA version: 14.1;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 14.1;Classification code 10027433;Term: Metabolism and nutrition disorders;System Organ Class: 10027433 - Metabolism and nutrition disorders;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Name: AAVrh.10cuARSA
Product Code: Non applicable
InsermNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
Phase 1/2France
510JPRN-UMIN000009392
2012/11/2424/11/2012An Open-Label, Dose Escalation, Proof-of-Concept Clinical Trial of Chaperone therapy of Neuronopathic Gaucher Disease with AmbroxolAn Open-Label, Dose Escalation, Proof-of-Concept Clinical Trial of Chaperone therapy of Neuronopathic Gaucher Disease with Ambroxol - Chaperone therapy of Neuronopathic Gaucher Disease with Ambroxol Neuronopathic Gaucher diseaseAmbroxol at a dose level of 25 mg/kg/day (upper limit: 1g/day) will be given by mouth for 6 months.Tottori University, Faculty of Medicine, Institute of Neurological ScienceNULLRecruitingNot applicableNot applicableMale and Female5Phase 2,3Japan
511NCT01653444
(ClinicalTrials.gov)
November 201224/7/2012Evaluate the Safety and Exploratory Efficacy of GC1119Multicenter and Dose Escalation Phase 1 Study to Evaluate the Safety and Exploratory Efficacy of GC1119(Recombinant Human a-galactosidase A) for Enzyme Replacement Therapy in Fabry Disease PatientsFabry DiseaseDrug: GC1119Green Cross CorporationNULLCompleted16 YearsN/AMale8Phase 1Korea, Republic of
512NCT01951989
(ClinicalTrials.gov)
November 20122/9/2013Intra-monocyte Imiglucerase Kinetics in Gaucher DiseaseStudy of Intra-monocytic Imiglucerase Kinetic and Its Correlation With Clinical and Biological Gaucher DiseaseGaucher DiseaseDrug: Imiglucérase (drug) pharmacokineticsUniversity Hospital, Clermont-FerrandNULLRecruiting12 YearsN/ABoth60Phase 2France
513EUCTR2012-001966-14-ES
(EUCTR)
25/10/201203/09/2012A study to assess the renal function in young male patients with Fabry disease who have never received any specific treatment for this disease.A Cross-sectional Study of Renal Function in Treatment-naïve, Young Male Patients with Fabry Disease - FABRY-MAP Fabry disease
MedDRA version: 15.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Trade Name: Iohexol
Product Name: OMNIPAQUE
Product Code: Not applicable
INN or Proposed INN: iohexol
Other descriptive name: iohexol
Genzyme, a Sanofi CompanyNULLNot RecruitingFemale: no
Male: yes
45Phase 1United States;Canada;Spain;Norway;Netherlands;United Kingdom
514NCT01678898
(ClinicalTrials.gov)
October 201231/8/2012Dose-ranging Study of PRX-102 in Adult Fabry Disease PatientsA Phase 1/2, Open Label, Dose Ranging Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Exploratory Efficacy Parameters of PRX-102 Administered by Intravenous Infusion Every 2 Weeks for 12 Months to Adult Fabry PatientsFabry DiseaseDrug: PRX-102ProtalixNULLCompleted18 YearsN/AAll18Phase 1/Phase 2United States;Australia;Paraguay;Serbia;Spain;United Kingdom
515NCT01685216
(ClinicalTrials.gov)
September 201210/9/2012Efficacy and Safety Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher DiseaseA Multi-center, Open-label, Efficacy and Safety Study of Velaglucerase Alfa Enzyme Replacement Therapy in Children and Adolescents With Type 3 Gaucher DiseaseGaucher Disease, Type 3Biological: velaglucerase alfaShireNULLCompleted2 Years17 YearsAll7Phase 1/Phase 2Egypt;India;Tunisia
516EUCTR2011-004800-40-DK
(EUCTR)
27/08/201213/07/2012A Study using Migalastat to see the safety and usefulness of the drug in patients with Fabry Disease.An Open-Label Extension Study to Evaluate the Long Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in Subjects with Fabry Disease. Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the gene (GLA) that encodes the lysosomal enzyme a-galactosidase A.
MedDRA version: 17.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03]
Product Name: Migalastat Hydrochloride
Product Code: AT1001
INN or Proposed INN: Migalastat Hydrochloride
Other descriptive name: GR181413A
Amicus Therapeutics, Inc.NULLNot RecruitingFemale: yes
Male: yes
100Phase 3United States;Spain;Turkey;Austria;Italy;United Kingdom;Egypt;France;Canada;Argentina;Belgium;Brazil;Denmark;Australia
517EUCTR2010-022709-16-GB
(EUCTR)
23/08/201221/05/2012A study to find out if an investigational new drug called AT1001 can help people with Fabry disease and if it is safe for use in combination with enzyme replacement therapy (ERT).AN OPEN-LABEL PHASE 2A STUDY TO INVESTIGATE DRUG-DRUG INTERACTIONS BETWEEN AT1001 (MIGALASTAT HYDROCHLORIDE) AND AGALSIDASE IN SUBJECTS WITH FABRY DISEASE Fabry disease
MedDRA version: 14.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: migalastat hydrochloride
Product Code: AT1001
INN or Proposed INN: migalastat hydrochloride
Other descriptive name: 1-deoxygalactonojirimycin hydrochloride
Trade Name: Replagal
INN or Proposed INN: AGALSIDASE ALFA
Trade Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Amicus Therapeutics, Inc.NULLNot RecruitingFemale: no
Male: yes
18Phase 2Belgium;United Kingdom
518EUCTR2011-000032-28-IT
(EUCTR)
07/08/201203/09/2012A reasarch study to look at the safety, effectiveness and the effects on the body of a new drug, SBC-102, in children with growth problems caused by a deficiency in the enzyme that break down fatsAN OPEN LABEL, MULTICENTER, DOSE ESCALATION STUDY TO EVALUATE THE SAFETY, TOLERABILITY, EFFICACY, PHARMACOKINETICS, AND PHARMACODYNAMICS OF SBC-102 IN CHILDREN WITH GROWTH FAILURE DUE TO LYSOSOMAL ACID LIPASE DEFICIENCY - SBC-102 in Children with Growth Failure due to LYSOSOMAL ACID LIPASE DEFICIENCY Growth failure in children due to lysosomal acid lipase deficiency (Wolman disease).
MedDRA version: 15.0;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 15.0;Level: HLGT;Classification code 10021605;Term: Inborn errors of metabolism;System Organ Class: 10027433 - Metabolism and nutrition disorders
MedDRA version: 15.0;Level: SOC;Classification code 10027433;Term: Metabolism and nutrition disorders;System Organ Class: 10027433 - Metabolism and nutrition disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: recombinant human lysosomal acid lipase (rhLAL)
Product Code: SBC-102
Other descriptive name: recombinant human lysosomal acid lipase (rhLAL)
SYNAGEVA BIOPHARMA CORP.NULLNot RecruitingFemale: yes
Male: yes
10United States;Taiwan;Ireland;Germany;United Kingdom;Italy
519EUCTR2012-000979-17-DK
(EUCTR)
06/08/201206/08/2012A Placebo-Controlled phase 3 trial of repeated Lamazym treatment of subjects with Alpha-MannosidosisA Multi-Center, Double-Blind, Randomized, Placebo-Controlled, Parallel Group Trial, Investigating the Efficacy and Safety of Repeated Lamazym Treatment of Subjects with alpha-Mannosidosis - Phase III Treatement of Alpha-Mannosidosis;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]Product Name: Lamazym
Product Code: rhLAMAN
Other descriptive name: recombinant human alpha-mannosidase
Zymenex A/SNULLNot RecruitingFemale: yes
Male: yes
20Phase 3Spain;Belgium;Denmark;Germany;Sweden
520NCT01697319
(ClinicalTrials.gov)
August 201217/9/2012Efficacy and Safety Study of BMN 110 for Morquio A Syndrome Patients Who Have Limited AmbulationA Phase 2, Open-label, Multinational Study to Evaluate the Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Who Have Limited AmbulationMucopolysaccharidosis IVA;Morquio A Syndrome;MPS IVADrug: BMN 110BioMarin PharmaceuticalNULLTerminated5 YearsN/AAll16Phase 2United States;Germany;United Kingdom
521NCT01681953
(ClinicalTrials.gov)
August 201222/8/2012A Placebo-Controlled Phase 3 Trial of Repeated Lamazym Treatment of Subjects With Alpha-MannosidosisA Multi-Center, Double-Blind, Randomized, Placebo-Controlled, Parallel Group Trial, Investigating the Efficacy and Safety of Repeated Lamazym Treatment of Subjects With Alpha-Mannosidosis.Alpha-MannosidosisDrug: Lamazym;Drug: PlaceboZymenex A/SEuropean CommissionCompleted5 Years35 YearsAll25Phase 3Denmark;France;Germany;Poland;United Kingdom
522EUCTR2011-004355-40-DE
(EUCTR)
23/07/201218/01/2012A multi-center, open-label trial of the long-term efficacy and safety of Lamazym for the treatment of patients with alpha-Mannosidosis.A multi-center, open-label trial of the long-term efficacy and safety of Lamazym for the treatment of patients with alpha-Mannosidosis. - Phase 2b Treatement of Alpha-Mannosidosis;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]Product Name: Lamazym
Product Code: rhLAMAN
Other descriptive name: recombinant human alpha-mannosidase
Zymenex A/SNULLNot RecruitingFemale: yes
Male: yes
9Phase 2Spain;Belgium;Denmark;Germany;United Kingdom
523NCT01626092
(ClinicalTrials.gov)
July 11, 201220/6/2012Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal DisordersTreatment of High Risk, Inherited Lysosomal and Peroxisomal Disorders by Reduced-Intensity Hematopoietic Cell Transplantation and Low-Dose Total Body Irradiation With Marrow Boosting by Volumetric-Modulated Arc Therapy (VMAT)Lysosomal Storage Disease;Peroxisomal DisorderDrug: Campath-1H;Drug: Clofarabine;Drug: Melphalan;Radiation: Total Body Irradiation with Marrow Boosting;Biological: Hematopoietic stem cell transplantation;Drug: Cyclosporine A;Drug: Mycophenolate mofetilMasonic Cancer Center, University of MinnesotaNULLCompletedN/A55 YearsAll3N/AUnited States
524EUCTR2010-020199-45-DK
(EUCTR)
04/07/201224/05/2012A Phase 3 Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome)A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome) Mucopolysaccharidosis Type IVA
MedDRA version: 14.1;Level: PT;Classification code 10028095;Term: Mucopolysaccharidosis IV;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: recombinant human N-acetylgalactosamine-6-sulfatase (rhGALNS)
Product Code: BMN 110
INN or Proposed INN: Not Available
Other descriptive name: recombinant human N-acetylgalactosamine-6-sulfatase, BMN 110
BioMarin Pharmaceutical Inc.NULLNot RecruitingFemale: yes
Male: yes
162Phase 3Portugal;United States;Qatar;Saudi Arabia;Taiwan;Spain;Colombia;Italy;United Kingdom;France;Canada;Argentina;Brazil;Denmark;Australia;Netherlands;Germany;Norway;Japan;Korea, Republic of
525NCT01645189
(ClinicalTrials.gov)
July 201216/7/2012Safety and Efficacy of HunteraseTo Evaluate the Safety and Efficacy of Hunterase(Idursulfase-beta) in Hunter Syndrome Patients < 6 Years of Age Receiving Idursulfase Enzyme Replacement TherapyHunter SyndromeBiological: HunteraseGreen Cross CorporationNULLCompletedN/A5 YearsMale6Phase 3Korea, Republic of
526EUCTR2011-005703-33-DE
(EUCTR)
19/06/201231/01/2012A Clinical Trial Study to Evaluate how Effective and Safe is the Drug BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome) Who Have Limited AmbulationA Phase 2, Open-label, Multinational Study to Evaluate the Efficacy and Safety of BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome) Who Have Limited Ambulation Mucopolysaccharidosis Type IVA
MedDRA version: 16.1;Level: PT;Classification code 10028095;Term: Mucopolysaccharidosis IV;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: recombinant human N-acetylgalactosamine-6-sulfatase (rhGALNS)
Product Code: BMN 110
INN or Proposed INN: Not Available
Other descriptive name: recombinant human N-acetylgalactosamine-6-sulfatase, BMN 110 drug substance
BioMarin Pharmaceutical Inc.NULLNot RecruitingFemale: yes
Male: yes
20Phase 2United States;Germany;United Kingdom;Italy
527EUCTR2011-005682-20-DE
(EUCTR)
19/06/201231/01/2012A Pilot Study to Evaluate the Safety and Physiological Effects of Two Doses of BMN 110 in MPS IVA PatientsA Randomized, Double-Blind, Pilot Study of the Safety and Physiological Effects of Two Doses of BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome) Mucopolysaccharidosis Type IVA
MedDRA version: 16.0;Level: PT;Classification code 10028095;Term: Mucopolysaccharidosis IV;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: BMN 110
Product Code: N/A
INN or Proposed INN: Not Available
Other descriptive name: recombinant human N-acetylgalactosamine-6-sulfatase, BMN 110 drug substance
BioMarin Pharmaceutical Inc.NULLNot RecruitingFemale: yes
Male: yes
25United States;Canada;Germany;United Kingdom
528EUCTR2010-020199-45-DE
(EUCTR)
14/06/201212/09/2011A phase 3 extension study to evaluate the long term efficacy and safety of BMN 110 in patients with Mucopolysaccharidosis IV A (Morquio A syndrome)A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome) - NA Mucopolysaccharidosis type IVA
MedDRA version: 14.1;Level: PT;Classification code 10028095;Term: Mucopolysaccharidosis IV;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: recombinant human Nacetylgalactosamine-
Product Code: BMN 110
INN or Proposed INN: Not Available
Other descriptive name: recombinant human N-acetylgalactosamine 6-sulfatase, BMN 110
BioMarin Pharmaceutical Inc.NULLNot RecruitingFemale: yes
Male: yes
162Phase 3Portugal;United States;Qatar;Saudi Arabia;Taiwan;Spain;Turkey;Colombia;Italy;Switzerland;United Kingdom;France;Canada;Argentina;Brazil;Poland;Denmark;Australia;Netherlands;Germany;Norway;Japan;Korea, Republic of
529EUCTR2011-002044-28-DE
(EUCTR)
14/06/201228/06/2011A safety and efficacy study in Children with Metachromatic Leukodystrophy recieving enzyme (HGT-1110) replacement by intrathecal injectionA Phase I/II, Multicenter, Open-label, Dose Escalation Study of HGT-1110 Administered Intrathecally in Children with Metachromatic Leukodystrophy Treatment of Metachromatic Leukodystrophy
MedDRA version: 19.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Code: HGT-1110
INN or Proposed INN: N/A
Other descriptive name: Recombinant Human Arylsulfatase A (rhASA,
Shire Human Genetics Therapies IncNULLNot RecruitingFemale: yes
Male: yes
24Phase 1;Phase 2France;Brazil;Denmark;Australia;Germany;Japan
530EUCTR2011-005703-33-GB
(EUCTR)
29/05/201201/03/2012A Clinical Trial Study to Evaluate how Effective and Safe is the Drug BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome) Who Have Limited AmbulationA Phase 2, Open-label, Multinational Study to Evaluate the Efficacy and Safety of BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome) Who Have Limited Ambulation Mucopolysaccharidosis Type IVA
MedDRA version: 16.0;Level: PT;Classification code 10028095;Term: Mucopolysaccharidosis IV;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: recombinant human N-acetylgalactosamine-6-sulfatase (rhGALNS)
Product Code: BMN 110
INN or Proposed INN: Not Available
Other descriptive name: recombinant human N-acetylgalactosamine-6-sulfatase, BMN 110 drug substance
BioMarin Pharmaceutical Inc.NULLNot RecruitingFemale: yes
Male: yes
20Phase 2United States;Germany;Italy;United Kingdom
531NCT01173016
(ClinicalTrials.gov)
May 29, 201228/7/2010Administration of IV Laronidase Post Bone Marrow Transplant in HurlerPilot Study of Administration of Intravenous Laronidase Following Allogeneic Transplantation for Hurler SyndromeHurler SyndromeDrug: LaronidaseMasonic Cancer Center, University of MinnesotaNULLCompletedN/A14 YearsAll11Phase 1United States
532EUCTR2011-004800-40-IT
(EUCTR)
15/05/201212/03/2012A Study using Migalastat to see the safety and usefulness of the drug in patients with Fabry Disease.An Open-Label Extension Study to Evaluate the Long Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in Subjects with Fabry Disease. Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the gene (GLA) that encodes the lysosomal enzyme a- galactosidase A.
MedDRA version: 14.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03]
Product Name: Migalastat Hydrochloride
Product Code: GR181413
INN or Proposed INN: Migalastat Hydrochloride
Other descriptive name: GR181413A
GLAXOSMITHKLINE RESEARCH & DEVELOPMENT LTD.NULLNot RecruitingFemale: yes
Male: yes
100Egypt;United States;Belgium;Spain;Brazil;Turkey;Austria;Denmark;Australia;United Kingdom;Italy
533EUCTR2010-022636-37-DE
(EUCTR)
09/05/201210/01/2012The ATTRACT Study is a phase 3 clinical study that will measure theeffectiveness and safety of a new investigational medication, when compared to Enzyme Replacement Therapy, for the treatment of patients with Fabry diseaseA RANDOMIZED, OPEN-LABEL STUDY TO COMPARE THE EFFICACY AND SAFETY OF AT1001 AND ENZYME REPLACEMENT THERAPY (ERT) IN PATIENTS WITH FABRY DISEASE AND AT1001-RESPONSIVE GLA MUTATIONS, WHO WERE PREVIOUSLY TREATED WITH ERT - ATTRACT Fabry disease
MedDRA version: 15.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: migalastat hydrochloride
Product Code: AT1001
INN or Proposed INN: migalastat hydrochloride
Other descriptive name: 1-deoxygalactonojirimycin hydrochloride
Product Name: Inactive Reminder Capsules
Product Code: Inactive Reminder Capsules
INN or Proposed INN: Not applicable
Trade Name: Replagal
INN or Proposed INN: AGALSIDASE ALFA
Trade Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Amicus Therapeutics, Inc.NULLNot RecruitingFemale: yes
Male: yes
50Phase 3Hungary;Germany;Turkey;Switzerland;France;Italy;Austria;Australia;Brazil;Israel;United Kingdom;Slovakia;Russian Federation;Taiwan;Mexico;Argentina;Belgium;Denmark;Japan;United States;Greece;Poland
534EUCTR2011-004355-40-ES
(EUCTR)
19/04/201217/04/2012A multi-center, open-label trial of the long-term efficacy and safety of Lamazym for the treatment of patients with alpha-Mannosidosis.A multi-center, open-label trial of the long-term efficacy and safety of Lamazym for the treatment of patients with alpha-Mannosidosis. - Phase 2b Treatement of Alpha-Mannosidosis;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]Product Name: Lamazym
Product Code: rhLAMAN
Other descriptive name: alfa-manosidadas humana recombinante
Zymenex A/SNULLNot RecruitingFemale: yes
Male: yes
9Phase 2Belgium;Spain;Denmark;Germany;United Kingdom
535NCT01602601
(ClinicalTrials.gov)
April 9, 201217/5/2012A Study to Test the Possibility of Cross Reaction Induced by the Idursulfase Drug to GSK2788723A Study to Test the Possibility of Cross Reaction of the Antibodies Induced by the ELAPRASE (R) to GSK2788723 ELAPRASE is a Trade Mark Owned by a Third PartyMucopolysaccharidosis IIDrug: Idursulfase;Drug: GSK2788723GlaxoSmithKlineNULLCompletedN/AN/AAll10N/AJapan
536NCT01609062
(ClinicalTrials.gov)
April 201224/5/2012Safety and Exercise Study of Two Doses of BMN 110 for Morquio A SyndromeA Randomized, Double-Blind, Pilot Study of the Safety and Physiological Effects of Two Doses of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome)Mucopolysaccharidosis IVA;Morquio A Syndrome;MPS IVADrug: BMN 110BioMarin PharmaceuticalNULLTerminated7 YearsN/AAll25Phase 2United States;Canada;Germany;United Kingdom
537NCT01650779
(ClinicalTrials.gov)
April 201224/7/2012A Study Evaluating Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase BetaEvaluation of Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase Beta (The INFORM Study)Fabry DiseaseBiological: Agalsidase betaGenzyme, a Sanofi CompanyNULLCompletedN/AN/AMale15Phase 4United States
538NCT01588314
(ClinicalTrials.gov)
April 201226/4/2012Safety and Efficacy of Gabapentin for Neuropathic Pain in Fabry DiseasePlacebo Controlled Trial Evaluating Gabapentin for the Treatment of Small Fiber Neuropathic Pain in Patients With Fabry DiseaseFabry Disease;Neuropathic PainDrug: Gabapentin;Drug: placeboUniversity of MinnesotaGenzyme, a Sanofi CompanyWithdrawn18 YearsN/AAll0Phase 2United States
539NCT01572636
(ClinicalTrials.gov)
March 28, 20124/4/2012Laronidase (Aldurazyme TM) Enzyme Replacement Therapy With Hematopoietic Stem Cell Transplant for Hurler SyndromeMT2011-21C Laronidase (Aldurazyme TM) Enzyme Replacement Therapy (ERT) With Hematopoietic Stem Cell Transplantation (HSCT) for Hurler Syndrome (MPS IH).Mucopolysaccharidosis Type IH;MPS I;Hurler SyndromeDrug: LaronidaseMasonic Cancer Center, University of MinnesotaNULLTerminatedN/AN/AAll20United States
540EUCTR2011-004355-40-GB
(EUCTR)
28/03/201214/02/2012A multi-center, open-label trial of the long-term efficacy and safety of Lamazym for the treatment of patients with alpha-Mannosidosis.A multi-center, open-label trial of the long-term efficacy and safety of Lamazym for the treatment of patients with alpha-Mannosidosis. - Phase 2b Treatement of Alpha-Mannosidosis;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]Product Name: Lamazym
Product Code: rhLAMAN
Other descriptive name: recombinant human alpha-mannosidase
Zymenex A/SNULLNot RecruitingFemale: yes
Male: yes
9Phase 2Spain;Belgium;Denmark;Germany;United Kingdom
541EUCTR2009-015985-75-SI
(EUCTR)
22/03/201205/03/2012Follow on study in adult Fabry Disease patientsAn Open-label Extension of Study TKT028 Evaluating Safety and Clinical Outcomes of Replagal Enzyme Replacement Therapy Administered to Adult Patients with Fabry Disease Fabry disease
MedDRA version: 14.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Trade Name: Replagal
Product Name: Replagal
INN or Proposed INN: AGALSIDASE ALFA
Shire Human Genetic Therapies (HGT), Inc.NULLNot RecruitingFemale: yes
Male: yes
43Phase 3;Phase 4United States;Czech Republic;Slovenia;Paraguay;Finland;Poland;Australia;United Kingdom
542EUCTR2011-005682-20-GB
(EUCTR)
19/03/201221/03/2012A Pilot Study to Evaluate the Safety and Physiological Effects of Two Doses of BMN 110 in MPS IVA PatientsA Randomized, Double-Blind, Pilot Study of the Safety and Physiological Effects of Two Doses of BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome) Mucopolysaccharidosis Type IVA
MedDRA version: 14.1;Level: PT;Classification code 10028095;Term: Mucopolysaccharidosis IV;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: BMN 110
Product Code: N/A
INN or Proposed INN: Not Available
Other descriptive name: recombinant human N-acetylgalactosamine-6-sulfatase, BMN 110 drug substance
BioMarin Pharmaceutical Inc.NULLNot RecruitingFemale: yes
Male: yes
25United States;Canada;Germany;United Kingdom
543EUCTR2011-003197-84-IT
(EUCTR)
13/03/201212/03/2012A Study to Evaluate the Safety and Efficacy of BMN 110 in MPS IVA Patients Less Than 5 Years of AgeA Phase 2, Open-label, Multinational Clinical Study to Evaluate the Safety and Efficacy of BMN 110 in Pediatric Patients Less Than 5 Years of Age with Mucopolysaccharidosis IVA (Morquio A Syndrome) Mucopolysaccharidosis Type IVA
MedDRA version: 14.1;Level: PT;Classification code 10028095;Term: Mucopolysaccharidosis IV;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: BMN 110
Product Code: NA
Other descriptive name: recombinant human N-acetylgalactosamine-6-sulfatase, BMN 110 drug substance
BIOMARIN PHARMACEUTICAL INC.NULLNot RecruitingFemale: yes
Male: yes
15Phase 2United States;United Kingdom;Italy
544EUCTR2010-020199-45-PT
(EUCTR)
02/03/201229/12/2011A phase 3 extension study to evaluate the long term efficacy and safety of BMN 110 in patients with Mucopolysaccharidosis IV A (Morquio A syndrome)A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome) - NA Mucopolysaccharidosis type IVA
MedDRA version: 16.0;Level: PT;Classification code 10028095;Term: Mucopolysaccharidosis IV;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: recombinant human Nacetylgalactosamine-
Product Code: BMN 110
INN or Proposed INN: Not Available
Other descriptive name: recombinant human N-acetylgalactosamine 6-sulfatase, BMN 110
BioMarin Pharmaceutical Inc.NULLNot RecruitingFemale: yes
Male: yes
162Portugal;United States;Qatar;Saudi Arabia;Taiwan;Spain;Turkey;Colombia;Italy;Switzerland;United Kingdom;France;Canada;Argentina;Brazil;Poland;Denmark;Australia;Netherlands;Germany;Norway;Japan;Korea, Republic of
545NCT01614574
(ClinicalTrials.gov)
March 2, 20126/6/2012Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher DiseaseA Multicenter, Open-Label Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher DiseaseGaucher DiseaseBiological: velaglucerase alfaShireNULLCompleted2 YearsN/AAll6Phase 3Japan
546NCT02090608
(ClinicalTrials.gov)
March 201214/3/2014Paricalcitol in Fabry DiseaseFabry Disease;ProteinuriaDrug: ParicalcitolFederico II UniversityNULLCompleted18 Years75 YearsBoth14N/AItaly
547EUCTR2011-004800-40-ES
(EUCTR)
13/02/201211/01/2012A Study using Migalastat to see the safety and usefulness of the drug in patients with Fabry Disease.An Open-Label Extension Study to Evaluate the Long Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in Subjects with Fabry Disease. Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the gene (GLA) that encodes the lysosomal enzyme alfa-galactosidase A.
MedDRA version: 14.1;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03]
Product Name: Migalastat Hydrochloride
Product Code: GR181413
INN or Proposed INN: Migalastat Hydrochloride
Other descriptive name: GR181413A
GlaxoSmithKline Research & Development LimitedNULLNot RecruitingFemale: yes
Male: yes
100Phase 3France;Egypt;United States;Belgium;Brazil;Spain;Turkey;Austria;Denmark;Australia;Italy;United Kingdom
548NCT01510028
(ClinicalTrials.gov)
February 2, 201214/12/2011Multicenter Study of HGT-1110 Administered Intrathecally in Children With Metachromatic Leukodystrophy (MLD)A Phase I/II Multicenter Open-label Dose Escalation Study of HGT-1110 Administered Intrathecally in Children With Metachromatic LeukodystrophyMetachromatic Leukodystrophy (MLD)Biological: Recombinant human arylsulfatase AShireNULLCompletedN/A12 YearsAll24Phase 1/Phase 2Australia;Denmark;France;Germany;Japan;Argentina;Brazil
549EUCTR2011-004355-40-BE
(EUCTR)
30/01/201219/01/2012A multi-center, open-label trial of the long-term efficacy and safety of Lamazym for the treatment of patients with alpha-Mannosidosis.A multi-center, open-label trial of the long-term efficacy and safety of Lamazym for the treatment of patients with alpha-Mannosidosis. - Phase 2b Treatement of Alpha-Mannosidosis;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]Product Name: Lamazym
Product Code: rhLAMAN
Other descriptive name: recombinant human alpha-mannosidase
Zymenex A/SNULLNot RecruitingFemale: yes
Male: yes
9Phase 2Spain;Belgium;Denmark;Germany;United Kingdom
550EUCTR2011-003685-32-ES
(EUCTR)
27/01/201213/10/2011NAA Multicenter Extension Study of Taliglucerase alfa in Adult Subjects with Gaucher Disease - NA Gaucher disease
MedDRA version: 14.0;Level: PT;Classification code 10018048;Term: Gaucher's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: recombinant human glucerebrosidase
Product Code: Taliglucerase Alfa
INN or Proposed INN: Taliglucerase alfa
Other descriptive name: prGCD
Protalix BiotherapeuticsNULLNot RecruitingFemale: yes
Male: yes
25Phase 3Serbia;Mexico;Canada;Spain;South Africa;Israel;Chile;Italy
551EUCTR2011-004800-40-GB
(EUCTR)
25/01/201225/10/2011A Study using Migalastat to see the safety and usefulness of the drug in patients with Fabry Disease.An Open-Label Extension Study to Evaluate the Long Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in Subjects with Fabry Disease. Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the gene (GLA) that encodes the lysosomal enzyme a-galactosidase A.
MedDRA version: 17.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03]
Product Name: Migalastat Hydrochloride
Product Code: AT1001
INN or Proposed INN: Migalastat Hydrochloride
Other descriptive name: GR181413A
Amicus Therapeutics, Inc.NULLNot Recruiting Female: yes
Male: yes
100 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): noUnited States;Spain;Turkey;Austria;Italy;United Kingdom;Egypt;France;Canada;Argentina;Belgium;Brazil;Australia;Denmark
552EUCTR2011-004355-40-DK
(EUCTR)
17/01/201218/01/2012A multi-center, open-label trial of the long-term efficacy and safety of Lamazym for the treatment of patients with alpha-Mannosidosis.A multi-center, open-label trial of the long-term efficacy and safety of Lamazym for the treatment of patients with alpha-Mannosidosis. - Phase 2b Treatement of Alpha-Mannosidosis;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]Product Name: Lamazym
Product Code: rhLAMAN
Other descriptive name: recombinant human alpha-mannosidase
Zymenex A/SNULLNot RecruitingFemale: yes
Male: yes
9Phase 2Spain;Belgium;Denmark;Germany;United Kingdom
553NCT03333200
(ClinicalTrials.gov)
January 11, 201224/4/2017Longitudinal Study of Neurodegenerative DisordersLongitudinal Study of Neurodegenerative DisordersMLD;Krabbe Disease;ALD;MPS I;MPS II;MPS III;Vanishing White Matter Disease;GM3 Gangliosidosis;PKAN;Tay-Sachs Disease;NP Deficiency;Osteopetrosis;Alpha-Mannosidosis;Sandhoff Disease;Niemann-Pick Diseases;MPS IV;Gaucher Disease;GAN;GM1 Gangliosidoses;Morquio Disease;S-Adenosylhomocysteine Hydrolase Deficiency;Batten Disease;Pelizaeus-Merzbacher Disease;Leukodystrophy;Lysosomal Storage Diseases;Purine Nucleoside Phosphorylase Deficiency;Multiple Sulfatase Deficiency DiseaseOther: Palliative Care;Biological: Hematopoetic Stem Cell TransplantationUniversity of PittsburghNULLRecruitingN/AN/AAll1500United States
554EUCTR2011-000212-25-GB
(EUCTR)
05/01/201224/02/2011An extension to the safety, tolerability and preliminary efficacy study of Idursulfase-IT in patients with Hunter syndrome associated with learning disabilityAn Open-Label Extension of Study HGT-HIT-045 Evaluating Long-Term Safety and Clinical Outcomes of Intrathecal Idursulfase-IT Administered in Conjunction with Intravenous Elaprase® in Pediatric Patients with Hunter Syndrome and Cognitive Impairment Treatment of Hunter syndrome and cognitive impairment
MedDRA version: 20.1;Level: PT;Classification code 10056889;Term: Mucopolysaccharidosis II;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Idursulfase(12S)-IT
Product Code: 12S-IT
INN or Proposed INN: idursulfase
Other descriptive name: Idursulfase-IT
Shire HGT IncNULLAuthorised-recruitment may be ongoing or finishedFemale: no
Male: yes
15Phase 1;Phase 2United States;Canada;United Kingdom
555EUCTR2010-020198-18-NO
(EUCTR)
03/01/201219/09/2011A Double-Blind Study to Evaluate the Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVAA Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multinational Clinical Study to Evaluate the Efficacy and Safety of 2.0 mg/kg/week and 2.0 mg/kg/every other week BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome) Mucopolysaccharidosis Type IVA
MedDRA version: 14.1;Level: PT;Classification code 10028095;Term: Mucopolysaccharidosis IV;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: BMN 110
Product Code: N/A
INN or Proposed INN: N/A
Other descriptive name: recombinant human N-acetylgalactosamine-6-sulfatase, BMN 110 drug substance
BioMarin Pharmaceutical IncNULLNot RecruitingFemale: yes
Male: yes
162Phase 3United States;Portugal;Qatar;Taiwan;Saudi Arabia;Colombia;United Kingdom;Switzerland;Italy;France;Canada;Argentina;Poland;Brazil;Australia;Denmark;Norway;Germany;Netherlands;Japan;Korea, Republic of
556NCT01681940
(ClinicalTrials.gov)
January 201222/8/2012Long-term Efficacy and Safety of Lamazym for the Treatment of Patients With Alpha-MannosidosisA Multi-Center, Open-Label Trial of the Long-term Efficacy and Safety of Lamazym for the Treatment of Patients With Alpha-MannosidosisAlpha-MannosidosisDrug: LamazymZymenex A/SEuropean CommissionCompleted5 Years21 YearsAll10Phase 2Belgium;Denmark;Spain;United Kingdom
557EUCTR2010-020199-45-IT
(EUCTR)
20/12/201127/12/2011A phase 3 extension study to evaluate the long term efficacy and safetyof BMN 110 in patients with Mucopolysaccharidosis IV A (Morquio Asyndrome)A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients with MucopolysaccharidosisIVA (Morquio A Syndrome) Mucopolysaccharidosis type IVA
MedDRA version: 14.1;Level: PT;Classification code 10028095;Term: Mucopolysaccharidosis IV;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: BM110
Other descriptive name: recombinant human N-acetylgalactosamine 6-sulfatase, BMN 110
BIOMARIN PHARMACEUTICAL INC.NULLNot RecruitingFemale: yes
Male: yes
162Phase 3Portugal;United States;Qatar;Saudi Arabia;Taiwan;Spain;Korea, Democratic People's Republic of;Turkey;Colombia;United Kingdom;Italy;Switzerland;Canada;Argentina;Brazil;Denmark;Australia;Germany;Japan
558EUCTR2010-022636-37-IT
(EUCTR)
16/12/201113/03/2012A Randomized, Open-Label, Study to Compare the Efficacy and Safety of AT1001 and Enzyme Replacement Therapy (ERT) in Patients With Fabry Disease and AT1001-Responsive GLA Mutations, Who Were Previously Treated With ERT - AT1001-012A Randomized, Open-Label, Study to Compare the Efficacy and Safety of AT1001 and Enzyme Replacement Therapy (ERT) in Patients With Fabry Disease and AT1001-Responsive GLA Mutations, Who Were Previously Treated With ERT - AT1001-012 Fabry disease
MedDRA version: 14.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: migalastat hydrocloride
Product Code: AT1001
INN or Proposed INN: migalastat hydrocloride
Other descriptive name: 1-deoxygalactonojirimycin hydrochloride
Trade Name: REPLAGAL
INN or Proposed INN: Agalsidase alfa
Other descriptive name: NA
Trade Name: FABRAZYME
INN or Proposed INN: Agalsidase beta
Other descriptive name: NA
AMICUS THERAPEUTICS, INCNULLNot RecruitingFemale: yes
Male: yes
50United States;Taiwan;Greece;Turkey;Austria;Russian Federation;Italy;Switzerland;United Kingdom;Mexico;Argentina;Brazil;Belgium;Denmark;Australia;Germany;Japan
559NCT01488097
(ClinicalTrials.gov)
December 12, 201126/11/2011Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of SBC-102 (Sebelipase Alfa) in Adult Subjects With Lysosomal Acid Lipase DeficiencyAn Open Label Multicenter Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of SBC-102 in Adult Subjects With Liver Dysfunction Due to Lysosomal Acid Lipase Deficiency Who Previously Received Treatment in Study LAL-CL01Cholesterol Ester Storage Disease (CESD);Lysosomal Acid Lipase Deficiency;LAL-DeficiencyDrug: sebelipase alfaAlexion PharmaceuticalsNULLCompleted18 YearsN/AAll8Phase 2United States;Canada;Czechia;France;United Kingdom;Czech Republic
560EUCTR2011-002880-42-GB
(EUCTR)
05/12/201112/09/2011A research study to look at the safety, effectiveness and the long-term effects on the body of a new drug, SBC-102, in children with growth problems caused by a deficiency in the enzyme that breaks down fats who were previously treated with SBC-102An Open Label Multicenter Extension Study to Evaluate the Long-Term Efficacy and Safety of SBC 102 in Children with Lysosomal Acid Lipase Deficiency Who Previously Received Treatment with SBC-102 - Extension to LAL-CL03 in children with LAL deficiency Growth failure in children due to lysosomal acid lipase deficiency (Wolman disease).
MedDRA version: 14.0;Level: SOC;Classification code 10027433;Term: Metabolism and nutrition disorders;System Organ Class: 10027433 - Metabolism and nutrition disorders
MedDRA version: 14.0;Level: HLGT;Classification code 10021605;Term: Inborn errors of metabolism;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: recombinant human lysosomal acid lipase (rhLAL)
Product Code: SBC-102
INN or Proposed INN: not available
Other descriptive name: recombinant human lysosomal acid lipase (rhLAL)
Synageva Biopharma Corp.NULLNot RecruitingFemale: yes
Male: yes
10United States;France;Germany;United Kingdom
561EUCTR2010-020198-18-DK
(EUCTR)
01/12/201117/10/2011A Double-Blind Study to Evaluate the Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVAA Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multinational Clinical Study to Evaluate the Efficacy and Safety of 2.0 mg/kg/week and 2.0 mg/kg/every other week BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome) Mucopolysaccharidosis Type IVA
MedDRA version: 14.0;Level: PT;Classification code 10028095;Term: Mucopolysaccharidosis IV;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: BMN 110
Product Code: N/A
INN or Proposed INN: N/A
Other descriptive name: recombinant human N-acetylgalactosamine-6-sulfatase, BMN 110 drug substance
BioMarin Pharmaceutical IncNULLNot RecruitingFemale: yes
Male: yes
162Phase 3Portugal;United States;Qatar;Saudi Arabia;Taiwan;Colombia;Italy;Switzerland;United Kingdom;France;Canada;Argentina;Poland;Brazil;Denmark;Australia;Netherlands;Germany;Norway;Japan;Korea, Republic of
562NCT01476163
(ClinicalTrials.gov)
December 201117/11/2011Physician Initiated Expanded Access Request for Migalastat in Individual Patients With Fabry DiseasePhysician Initiated Expanded Access Request for Treatment Use of Migalastat Hydrochloride (AT1001), an Investigational Treatment for Individual Patients With Fabry Disease (AT1001-188)Fabry DiseaseDrug: migalastat HClAmicus TherapeuticsNULLApproved for marketing16 Years74 YearsAllUnited States;Australia
563EUCTR2011-002044-28-DK
(EUCTR)
25/11/201116/08/2011A safety and efficacy study in Children with Metachromatic Leukodystrophy recieving enzyme (HGT-1110) replacement by intrathecal injectionA Phase I/II, Multicenter, Open-label, Dose Escalation Study of HGT-1110 Administered Intrathecally in Children with Metachromatic Leukodystrophy Treatment of Metachromatic Leukodystrophy
MedDRA version: 19.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Code: HGT-1110
INN or Proposed INN: N/A
Other descriptive name: Recombinant Human Arylsulfatase A (rhASA,
Shire Human Genetics Therapies IncNULLNot RecruitingFemale: yes
Male: yes
24Phase 1;Phase 2France;Brazil;Australia;Denmark;Germany;Japan
564EUCTR2011-003197-84-GB
(EUCTR)
22/11/201113/09/2011A Study to Evaluate the Safety and Efficacy of BMN 110 in MPS IVA Patients Less Than 5 Years of AgeA Phase 2, Open-label, Multinational Clinical Study to Evaluate the Safety and Efficacy of BMN 110 in Pediatric Patients Less Than 5 Years of Age with Mucopolysaccharidosis IVA (Morquio A Syndrome) Mucopolysaccharidosis Type IVA
MedDRA version: 14.1;Level: PT;Classification code 10028095;Term: Mucopolysaccharidosis IV;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: BMN 110
Product Code: N/A
INN or Proposed INN: N/A
Other descriptive name: recombinant human N-acetylgalactosamine-6-sulfatase, BMN 110 drug substance
BioMarin Pharmaceutical Inc.NULLNot Recruiting Female: yes
Male: yes
15 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noUnited States;Italy;United Kingdom
565NCT01304277
(ClinicalTrials.gov)
November 17, 201115/2/2011This Study is Designed to Evaluate PD/PK and Safety of Replagal Manufactured by Two Different Processes.A Phase II Comparability Study Between Replagal® Produced From Agalsidase Alfa Manufactured by 2 Different Processes in Adult Male Patients With Fabry DiseaseFabry DiseaseBiological: agalsidase alfaShireNULLCompleted18 Years65 YearsMale17Phase 2Canada
566EUCTR2009-015985-75-FI
(EUCTR)
15/11/201126/10/2011Follow on study in adault Fabry Disease patientsAn Open-label Extension of Study TKT028 Evaluating Safety and Clinical Outcomes of Replagal Enzyme Replacement Therapy Administered to Adult Patients with Fabry Disease Fabry disease
MedDRA version: 16.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Trade Name: Replagal
Product Name: Replagal
INN or Proposed INN: AGALSIDASE ALFA
Shire Human Genetic Therapies (HGT), Inc.NULLNot RecruitingFemale: yes
Male: yes
43United States;Czech Republic;Slovenia;Paraguay;Finland;Poland;Australia;United Kingdom
567EUCTR2011-003676-37-ES
(EUCTR)
15/11/201114/09/2011NAA Multicenter Extension Study of Taliglucerase alfa in Pediatric Subjects with Gaucher Disease - NA Gaucher disease
MedDRA version: 14.0;Level: PT;Classification code 10018048;Term: Gaucher's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: recombinant human glucerebrosidase
Product Code: Taliglucerase Alfa
INN or Proposed INN: Taliglucerase alfa
Other descriptive name: prGCD
Protalix BiotherapeuticsNULLNot RecruitingFemale: yes
Male: yes
15Phase 3Spain;South Africa;Israel
568EUCTR2011-001513-13-CZ
(EUCTR)
10/11/201112/09/2011A research study to look at the long-term safety, effectiveness and the effects on the body of a new drug, SBC-102, in adults with liver problems caused by a deficiency in the enzyme that breaks down fats. This is an extension study for those subjects who previously received treatment in study LAL-CL01.AN OPEN LABEL MULTICENTER EXTENSION STUDY TO EVALUATE THE LONG-TERM SAFETY, TOLERABILITY, AND EFFICACY OF SBC-102 IN ADULT SUBJECTS WITH LIVER DYSFUNCTION DUE TO LYSOSOMAL ACID LIPASE DEFICIENCY WHO PREVIOUSLY RECEIVED TREATMENT IN STUDY LAL-CL01 - SBC-102 in patients with liver dysfunction due to LAL deficiency Lysosomal Acid Lipase (LAL) Deficiency is a rare autosomal recessive lipid storage disorder that is caused by deficient activity or absence, of the lysosomal enzyme, LAL. It is an extremely rare disorder, with an estimated prevalence of less than 0.2 lives per 100,000. Although a single disease, LAL Deficiency has two phenotypes, Cholesteryl Ester Storage Disease (CESD) and Wolman Disease (WD). Both forms of the disease lead to the accumulation of fats, in various tissues and cell types.
MedDRA version: 14.1;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850
MedDRA version: 14.1;Level: HLGT;Classification code 10021605;Term: Inborn errors of metabolism;System Organ Class: 10027433 - Metabolism and nutrition disorders
MedDRA version: 14.1;Level: SOC;Classification code 10027433;Term: Metabolism and nutrition disorders;System Organ Class: 10027433 - Metabolism and nutrition disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: recombinant human lysosomal acid lipase
Product Code: SBC-102
INN or Proposed INN: sebelipase alfa
Other descriptive name: recombinant human lysosomal acid lipase (rhLAL), esterase, cholesterol (human gene LIPA), lysosomal acid lipase (human gene LIPA)
Synageva Biopharma Corp.NULLNot RecruitingFemale: yes
Male: yes
9Phase 2United States;France;Czech Republic;United Kingdom
569EUCTR2010-022636-37-GR
(EUCTR)
02/11/201123/09/2011The ATTRACT Study is a phase 3 clinical study that will measure theeffectiveness and safety of a new investigational medication, when compared to Enzyme Replacement Therapy, for the treatment of patients with Fabry diseaseA RANDOMIZED, OPEN-LABEL STUDY TO COMPARE THE EFFICACY AND SAFETY OF AT1001 AND ENZYME REPLACEMENT THERAPY (ERT) IN PATIENTS WITH FABRY DISEASE AND AT1001-RESPONSIVE GLA MUTATIONS, WHO WERE PREVIOUSLY TREATED WITH ERT - ATTRACT Fabry disease
MedDRA version: 14.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: migalastat hydrochloride
Product Code: AT1001
INN or Proposed INN: migalastat hydrochloride
Other descriptive name: 1-deoxygalactonojirimycin hydrochloride
Product Name: Inactive Reminder Capsules
Product Code: Inactive Reminder Capsules
INN or Proposed INN: Not applicable
Trade Name: Replagal
INN or Proposed INN: AGALSIDASE ALFA
Trade Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Amicus Therapeutics, Inc.NULLNot RecruitingFemale: yes
Male: yes
50Phase 3United States;Taiwan;Slovakia;Greece;Turkey;Austria;Israel;Russian Federation;Italy;Switzerland;United Kingdom;France;Hungary;Mexico;Argentina;Brazil;Poland;Belgium;Denmark;Australia;Germany;Japan
570NCT01473875
(ClinicalTrials.gov)
November 201110/11/2011Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102An Open Label Multicenter Extension Study to Evaluate the Long-term Efficacy and Safety of SBC-102 in Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102Lysosomal Acid Lipase Deficiency;Wolman DiseaseDrug: SBC-102Alexion PharmaceuticalsNULLTerminatedN/AN/AAll10Phase 2/Phase 3France;United Kingdom
571EUCTR2011-001513-13-GB
(EUCTR)
24/10/201131/08/2011A research study to look at the long-term safety, effectiveness and the effects on the body of a new drug, SBC-102, in adults with liver problems caused by a deficiency in the enzyme that breaks down fats. This is an extension study for those subjects who previously received treatment in study LAL-CL01.AN OPEN LABEL MULTICENTER EXTENSION STUDY TO EVALUATE THE LONG-TERM SAFETY, TOLERABILITY, AND EFFICACY OF SBC-102 IN ADULT SUBJECTS WITH LIVER DYSFUNCTION DUE TO LYSOSOMAL ACID LIPASE DEFICIENCY WHO PREVIOUSLY RECEIVED TREATMENT IN STUDY LAL-CL01 - Extension to LAL-CL01 in patients with liver dysfunction due to LAL deficiency Lysosomal Acid Lipase (LAL) Deficiency is a rare autosomal recessive lipid storage disorder that is caused by deficient activity or absence, of the lysosomal enzyme, LAL. It is an extremely rare disorder, with an estimated prevalence of less than 0.2 lives per 100,000. Although a single disease, LAL Deficiency has two phenotypes, Cholesteryl Ester Storage Disease (CESD) and Wolman Disease (WD). Both forms of the disease lead to the accumulation of fats, in various tissues and cell types.
MedDRA version: 14.1;Level: SOC;Classification code 10027433;Term: Metabolism and nutrition disorders;System Organ Class: 10027433 - Metabolism and nutrition disorders
MedDRA version: 14.1;Level: HLGT;Classification code 10021605;Term: Inborn errors of metabolism;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: recombinant human lysosomal acid lipase
Product Code: SBC-102
INN or Proposed INN: NA
Other descriptive name: recombinant human lysosomal acid lipase (rhLAL), esterase, cholesterol (human gene LIPA)
Synageva Biopharma Corp.NULLNot Recruiting Female: yes
Male: yes
9 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noFrance;United States;Czech Republic;United Kingdom
572EUCTR2009-015985-75-GB
(EUCTR)
18/10/201119/05/2011Follow on study in adault Fabry Disease patientsAn Open-label Extension of Study TKT028 Evaluating Safety and Clinical Outcomes of Replagal Enzyme Replacement Therapy Administered to Adult Patients with Fabry Disease Fabry disease
MedDRA version: 14.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Trade Name: Replagal
Product Name: Replagal
INN or Proposed INN: AGALSIDASE ALFA
Shire Human Genetic Therapies (HGT), Inc.NULLNot RecruitingFemale: yes
Male: yes
43Phase 3;Phase 4United States;Czech Republic;Slovenia;Paraguay;Finland;Poland;Australia;United Kingdom
573NCT01458119
(ClinicalTrials.gov)
October 14, 201120/10/2011Open-Label Phase 3 Long-Term Safety Study of MigalastatAn Open-Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in Subjects With Fabry DiseaseFabry DiseaseDrug: migalastat hydrochlorideAmicus TherapeuticsNULLTerminated16 YearsN/AAll85Phase 3United States;Argentina;Australia;Belgium;Brazil;Canada;Denmark;Egypt;France;Italy;Spain;Turkey;United Kingdom;Austria;Japan
574NCT01489995
(ClinicalTrials.gov)
October 201120/10/2011Migalastat Food Effect StudyA Randomized, Open-Label, 5-Period Crossover Study to Evaluate the Effect of Meal Type and Timing on the Pharmacokinetics of Migalastat Hydrochloride in Healthy Volunteers.Fabry DiseaseDrug: A (migalastat);Drug: B (migalastat);Drug: C (migalastat);Drug: D (migalastat);Drug: E (migalastat)Amicus TherapeuticsNULLCompleted18 Years65 YearsBoth20Phase 1United States
575NCT01515956
(ClinicalTrials.gov)
October 201122/12/2011Study of BMN 110 in Pediatric Patients < 5 Years of Age With Mucopolysaccharidosis IVA (Morquio A Syndrome)A Phase 2, Open-label, Multinational Clinical Study to Evaluate the Safety and Efficacy of BMN 110 in Pediatric Patients Less Than 5 Years of Age With Mucopolysaccharidosis IVA (Morquio A Syndrome)Mucopolysaccharidosis IVA;Morquio A Syndrome;MPS IVADrug: BMN 110BioMarin PharmaceuticalNULLCompletedN/A5 YearsAll15Phase 2United States;Italy;Taiwan;United Kingdom
576EUCTR2010-022709-16-BE
(EUCTR)
12/09/201110/08/2011A study to find out if an investigational new drug called AT1001 can help people with Fabry disease and if it is safe for use in combination with enzyme replacement therapy (ERT).AN OPEN-LABEL PHASE 2A STUDY TO INVESTIGATE DRUG-DRUG INTERACTIONS BETWEEN AT1001 (MIGALASTAT HYDROCHLORIDE) AND AGALSIDASE IN SUBJECTS WITH FABRY DISEASE Fabry disease
MedDRA version: 14.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: migalastat hydrochloride
Product Code: AT1001
INN or Proposed INN: migalastat hydrochloride
Other descriptive name: 1-deoxygalactonojirimycin hydrochloride
Trade Name: Replagal
INN or Proposed INN: AGALSIDASE ALFA
Trade Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Amicus Therapeutics, Inc.NULLNot RecruitingFemale: no
Male: yes
24Phase 2France;Canada;Belgium;Australia;Netherlands;United Kingdom;Switzerland
577NCT01218659
(ClinicalTrials.gov)
September 8, 20116/10/2010Study to Compare the Efficacy and Safety of Oral AT1001 and Enzyme Replacement Therapy in Patients With Fabry DiseaseA Randomized, Open-Label Study to Compare the Efficacy and Safety of AT1001 and Enzyme Replacement Therapy (ERT) in Patients With Fabry Disease and AT1001-Responsive GLA Mutations, Who Were Previously Treated With ERTFabry DiseaseDrug: migalastat hydrochloride;Biological: agalsidaseAmicus TherapeuticsNULLCompleted16 Years74 YearsAll68Phase 3United States;Australia;Austria;Belgium;Brazil;Denmark;France;Italy;Japan;United Kingdom;Argentina;Germany;Greece;Poland;Switzerland;Taiwan;Turkey
578NCT01432561
(ClinicalTrials.gov)
September 20119/9/2011Study in Healthy Adults to Determine the Effect That Food Has on the Absorption and Delivery of the Drug Cystagon™Food-Effect on Bioavailability of Cystagon™ in Normal, Healthy AdultsCystinosis;Nephropathic CystinosisDrug: Cysteamine bitartrateUniversity of California, San DiegoRaptor Pharmaceuticals Corp.Completed18 YearsN/AAll8N/AUnited States
579NCT02770625
(ClinicalTrials.gov)
September 20117/5/2016Phase III Study of ISU302 in Patients With Type 1 Gaucher DiseaseA Multicenter, Open-Label Phase III Study to Evaluate the Safety and Efficacy of ISU302 (Imiglucerase for Injection) in Patients With Type 1 Gaucher DiseaseGaucher Disease, Type 1Drug: ISU302ISU Abxis Co., Ltd.NULLCompleted2 YearsN/AAll8Phase 3NULL
580NCT01411228
(ClinicalTrials.gov)
September 20114/8/2011A Multicenter Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher DiseaseA Multicenter Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher DiseaseGaucher DiseaseDrug: Taliglucerase alfaPfizerNULLCompleted2 Years18 YearsAll15Phase 3Israel;Paraguay;South Africa
581NCT01853852
(ClinicalTrials.gov)
September 201110/11/2011A Phase I, Randomized, Single-Blind, Four-Period Cross-Over, Placebo-Controlled, Dose-Escalation Study to Evaluate the Safety and Pharmacokinetics of Single Oral Doses of GR181413A/AT1001 in Healthy Japanese SubjectsA Phase I, Randomized, Single-Blind, Four-Period Cross-Over, Placebo-Controlled, Dose-Escalation Study to Evaluate the Safety and Pharmacokinetics of Single Oral Doses of GR181413A/AT1001 in Healthy Japanese SubjectsFabry DiseaseDrug: GR181413A/AT1001 solution;Drug: GR181413A/AT1001 capsule;Other: Potable water;Drug: Placebo capsuleAmicus TherapeuticsNULLCompleted20 Years55 YearsBoth14Phase 1Australia
582EUCTR2010-020198-18-DE
(EUCTR)
12/08/201114/02/2011A Double-Blind Study to Evaluate the Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVAA Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multinational Clinical Study to Evaluate the Efficacy and Safety of 2.0 mg/kg/week and 2.0 mg/kg/every other week BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome) Mucopolysaccharidosis Type IVA
MedDRA version: 14.1;Level: PT;Classification code 10028095;Term: Mucopolysaccharidosis IV;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: BMN 110
Product Code: N/A
INN or Proposed INN: N/A
Other descriptive name: recombinant human N-acetylgalactosamine-6-sulfatase, BMN 110 drug substance
Product Name: BMN 110
Product Code: N/A
INN or Proposed INN: N/A
Other descriptive name: recombinant human N-acetylgalactosamine-6-sulfatase, BMN 110 drug substance
BioMarin Pharmaceutical IncNULLNot RecruitingFemale: yes
Male: yes
162Phase 3United States;Portugal;Qatar;Taiwan;Saudi Arabia;Colombia;United Kingdom;Switzerland;Italy;France;Canada;Argentina;Poland;Brazil;Australia;Denmark;Germany;Netherlands;Norway;Japan;Korea, Republic of
583NCT01298141
(ClinicalTrials.gov)
August 10, 201115/2/2011A Multicenter Open-Label Treatment Protocol to Observe the Safety of Replagal (Agalsidase Alfa) Enzyme Replacement Therapy in Canadian Patients With Fabry DiseaseA Multicenter Open-Label Treatment Protocol to Observe the Safety of Replagal® (Agalsidase Alfa) Enzyme Replacement Therapy in Canadian Patients With Fabry DiseaseFabry DiseaseBiological: agalsidase alfaShireNULLCompletedN/AN/AAll171Phase 3Canada
584EUCTR2010-022636-37-AT
(EUCTR)
03/08/201127/07/2011The ATTRACT Study is a phase 3 clinical study that will measure theeffectiveness and safety of a new investigational medication, when compared to Enzyme Replacement Therapy, for the treatment of patients with Fabry diseaseA RANDOMIZED, OPEN-LABEL STUDY TO COMPARE THE EFFICACY AND SAFETY OF AT1001 AND ENZYME REPLACEMENT THERAPY (ERT) IN PATIENTS WITH FABRY DISEASE AND AT1001-RESPONSIVE GLA MUTATIONS, WHO WERE PREVIOUSLY TREATED WITH ERT - ATTRACT Fabry disease
MedDRA version: 16.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: migalastat hydrochloride
Product Code: AT1001
INN or Proposed INN: migalastat hydrochloride
Other descriptive name: 1-deoxygalactonojirimycin hydrochloride
Product Name: Inactive Reminder Capsules
Product Code: Inactive Reminder Capsules
INN or Proposed INN: Not applicable
Trade Name: Replagal
INN or Proposed INN: AGALSIDASE ALFA
Trade Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Amicus Therapeutics, Inc.NULLNot RecruitingFemale: yes
Male: yes
68Phase 3France;United States;Greece;Brazil;Belgium;Denmark;Australia;Austria;Germany;Japan;Italy;United Kingdom
585NCT01422187
(ClinicalTrials.gov)
August 201122/8/2011A Multicenter Extension Study of Taliglucerase Alfa in Adult Subjects With Gaucher DiseaseA Multicenter Extension Study of Taliglucerase Alfa in Adult Subjects With Gaucher DiseaseGaucher DiseaseDrug: Taliglucerase alfaPfizerNULLCompleted18 YearsN/AAll19Phase 3NULL
586NCT01730469
(ClinicalTrials.gov)
August 20118/11/2012Safety and Pharmacokinetics of AT1001 (Migalastat HCl) in Healthy Subjects and Subjects With Impaired Renal FunctionAn Open-Label Study to Determine the Safety and Pharmacokinetics of AT1001 in Subjects With Impaired Renal Function and Healthy Subjects With Normal Renal Function (AT1001-015)Fabry DiseaseDrug: AT1001 150 mgAmicus TherapeuticsNULLCompleted18 Years75 YearsAll32Phase 1United States
587NCT01474343
(ClinicalTrials.gov)
August 201110/11/2011Intracerebral Gene Therapy for Sanfilippo Type A SyndromeAn Open-label, Single Arm, Monocentric, Phase I/II Clinical Study of Intracerebral Administration of Adeno-associated Viral Vector Serotype 10 Carrying the Human SGSH and SUMF1 cDNAs for the Treatment of Sanfilippo Type A Syndrome.Mucopolysaccharidosis Type III A;Sanfilippo Disease Type AGenetic: SAF-301LYSOGENENULLCompleted18 Months6 YearsBoth4Phase 1/Phase 2France
588NCT01730482
(ClinicalTrials.gov)
August 20118/11/2012A Study to Assess the Absorption, Metabolism and Excretion of Migalastat Hydrochloride (AT1001-014)A Phase 1 Study to Investigate the Absorption, Metabolism and Excretion of [14C] AT1001 (Migalastat Hydrochloride) Following a Single Oral Administration in Healthy Volunteers (AT1001-014)Fabry DiseaseDrug: [14C] AT1001Amicus TherapeuticsNULLCompleted30 Years55 YearsMale6Phase 1NULL
589EUCTR2010-024068-16-CZ
(EUCTR)
26/07/201126/07/2011A research study to look at the safety, effectiveness and the effects on the body of a new drug, SBC-102, in adults with liver problems caused by a deficiency in the enzyme that breaks down fats.An open label multicenter study to evaluate the safety, tolerability and pharmacokinetics of SBC-102 in adult patients with liver dysfunction due to lysosomal acid lipase deficiency. - SBC-102 in patients with liver dysfunction due to LAL deficiency Lysosomal Acid Lipase (LAL) Deficiency is a rare autosomal recessive lipid storage disorder that is caused by deficient activity or absence, of the lysosomal enzyme, LAL. It is an extremely rare disorder, with an estimated prevalence of less than 0.2 lives per 100,000. Although a single disease, LAL Deficiency has two phenotypes, Cholesteryl Ester Storage Disease (CESD) and Wolman Disease (WD). Both forms of the disease lead to the accumulation of fats, in various tissues and cell types.
MedDRA version: 14.0;Level: SOC;Classification code 10027433;Term: Metabolism and nutrition disorders;System Organ Class: 10027433 - Metabolism and nutrition disorders
MedDRA version: 14.0;Level: HLGT;Classification code 10021605;Term: Inborn errors of metabolism;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: recombinant human lysosomal acid lipase (rhLAL)
Product Code: SBC-102
INN or Proposed INN: not available
Other descriptive name: recombinant human lysosomal acid lipase (rhLAL)
Synageva Biopharma Corp.NULLNot RecruitingFemale: yes
Male: yes
9United Kingdom;Czech Republic;United States
590EUCTR2010-020198-18-IT
(EUCTR)
19/07/201114/06/2011A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multinational Clinical Study to Evaluate the Efficacy and Safety of 2.0 mg/kg/week and 2.0 mg/kg/every other week BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome) - NDA Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multinational Clinical Study to Evaluate the Efficacy and Safety of 2.0 mg/kg/week and 2.0 mg/kg/every other week BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome) - ND Mucopolysaccharidosis Type IVA
MedDRA version: 13.1;Level: PT;Classification code 10028095;Term: Mucopolysaccharidosis IV;System Organ Class: 10010331 - Congenital, familial and genetic disorders
Product Name: BMN 110
Other descriptive name: recombinant human N-acetylgalactosamine-6-sulfatase, BMN 110 drug substance
BIOMARIN PHARMACEUTICAL INC.NULLNot RecruitingFemale: yes
Male: yes
162Phase 3Portugal;Germany;United Kingdom;Denmark;Norway;Italy
591EUCTR2010-020198-18-PT
(EUCTR)
01/07/201119/04/2011A Double-Blind Study to Evaluate the Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVAA Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multinational Clinical Study to Evaluate the Efficacy and Safety of 2.0 mg/kg/week and 2.0 mg/kg/every other week BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome) Mucopolysaccharidosis Type IVA
MedDRA version: 14.0;Level: PT;Classification code 10028095;Term: Mucopolysaccharidosis IV;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: BMN 110
Product Code: N/A
INN or Proposed INN: N/A
Other descriptive name: recombinant human N-acetylgalactosamine-6-sulfatase, BMN 110 drug substance
BioMarin Pharmaceutical IncNULLNot RecruitingFemale: yes
Male: yes
162Phase 3United Kingdom;France;Canada;Argentina;Poland;Brazil;Denmark;Australia;Netherlands;Germany;Norway;Japan;Korea, Republic of;Portugal;United States;Qatar;Saudi Arabia;Taiwan;Colombia;Italy;Switzerland
592NCT01427517
(ClinicalTrials.gov)
July 201130/8/2011Intravenous N-acetylcysteine for the Treatment of Gaucher's Disease and Parkinson's DiseaseIntravenous N-acetylcysteine for the Treatment of Gaucher's Disease and Parkinson's DiseaseParkinson's Disease;Gaucher's DiseaseDrug: N-acetylcysteineUniversity of MinnesotaRare Diseases Clinical Research Network;National Center for Advancing Translational Science (NCATS);National Institute of Neurological Disorders and Stroke (NINDS);National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)Completed18 YearsN/AAll9Phase 1United States
593NCT01415427
(ClinicalTrials.gov)
July 20118/8/2011Long-Term Efficacy and Safety Extension Study of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome)A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome)Mucopolysaccharidosis IV A;Morquio A Syndrome;MPS IVADrug: BMN 110 - Weekly;Drug: BMN 110 - Every Other WeekBioMarin PharmaceuticalNULLCompleted5 YearsN/AAll173Phase 3United States;Argentina;Brazil;Canada;Colombia;Denmark;France;Germany;Italy;Japan;Korea, Republic of;Netherlands;Norway;Portugal;Qatar;Saudi Arabia;Spain;Taiwan;Turkey;United Kingdom
594NCT01399047
(ClinicalTrials.gov)
July 20115/7/2011Cellcept for Treatment of Juvenile Neuronal Ceroid LipofuscinosisPhase II, Randomized, Placebo Controlled Trial of the Safety and Tolerability of Mycophenolate in Children With Juvenile Neuronal Ceroid LipofuscinosisJuvenile Neuronal Ceroid LipofuscinosisDrug: Mycophenolate mofetil;Drug: Liquid PlaceboUniversity of RochesterBatten Disease Support and Research Assocation (BDSRA)Completed6 Years25 YearsAll19Phase 2United States
595EUCTR2010-020199-45-GB
(EUCTR)
08/06/201106/05/2011A Phase 3 Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome)A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome) Mucopolysaccharidosis Type IVA
MedDRA version: 14.1;Level: PT;Classification code 10028095;Term: Mucopolysaccharidosis IV;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: recombinant human N-acetylgalactosamine-6-sulfatase (rhGALNS)
Product Code: BMN 110
INN or Proposed INN: Not Available
Other descriptive name: recombinant human N-acetylgalactosamine-6-sulfatase, BMN 110 drug substance
BioMarin Pharmaceutical Inc.NULLNot Recruiting Female: yes
Male: yes
162 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noPortugal;United States;Qatar;Saudi Arabia;Taiwan;Spain;Colombia;Italy;United Kingdom;Switzerland;France;Canada;Argentina;Poland;Brazil;Denmark;Australia;Netherlands;Germany;Norway;Japan;Korea, Republic of
596NCT01371825
(ClinicalTrials.gov)
May 4, 20119/6/2011Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of Sebelipase Alfa in Children With Growth Failure Due to Lysosomal Acid Lipase DeficiencyAn Open Label, Multicenter, Dose Escalation Study to Evaluate the Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of SBC-102 (Sebelipase Alfa) in Children With Growth Failure Due to Lysosomal Acid Lipase DeficiencyLysosomal Acid Lipase Deficiency;Wolman DiseaseDrug: Sebelipase alfa (SBC-102)Alexion PharmaceuticalsNULLCompletedN/A24 MonthsAll9Phase 2/Phase 3United States;Egypt;France;Ireland;United Kingdom;Germany;India;Italy;Saudi Arabia;Taiwan;Turkey
597EUCTR2010-022636-37-DK
(EUCTR)
03/05/201106/04/2011The ATTRACT Study is a phase 3 clinical study that will measure theeffectiveness and safety of a new investigational medication, when compared to Enzyme Replacement Therapy, for the treatment of patients with Fabry diseaseA RANDOMIZED, OPEN-LABEL STUDY TO COMPARE THE EFFICACY AND SAFETY OF AT1001 AND ENZYME REPLACEMENT THERAPY (ERT) IN PATIENTS WITH FABRY DISEASE AND AT1001-RESPONSIVE GLA MUTATIONS, WHO WERE PREVIOUSLY TREATED WITH ERT - ATTRACT Fabry disease
MedDRA version: 16.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: migalastat hydrochloride
Product Code: AT1001
INN or Proposed INN: migalastat hydrochloride
Other descriptive name: 1-deoxygalactonojirimycin hydrochloride
Product Name: Inactive Reminder Capsules
Product Code: Inactive Reminder Capsules
INN or Proposed INN: Not applicable
Trade Name: Replagal
INN or Proposed INN: AGALSIDASE ALFA
Trade Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Amicus Therapeutics, Inc.NULLNot RecruitingFemale: yes
Male: yes
68Phase 3United States;France;Greece;Belgium;Brazil;Austria;Australia;Denmark;Germany;United Kingdom;Japan;Italy
598NCT01363492
(ClinicalTrials.gov)
May 201131/3/2011Safety Study of Replagal® Therapy in Children With Fabry DiseaseAn Open-Label Clinical Trial of Replagal® Enzyme Replacement Therapy in Children With Fabry Disease Who Are Naive to Enzyme Replacement TherapyFabry DiseaseBiological: Replagal (agalsidase alfa)ShireNULLCompleted7 Years17 YearsAll15Phase 2United States
599NCT01307098
(ClinicalTrials.gov)
April 25, 20111/3/2011Safety, Tolerability and Pharmacokinetics of SBC-102 (Sebelipase Alfa) in Adult Participants With Lysosomal Acid Lipase DeficiencyAn Open-Label Multicenter Study to Evaluate the Safety, Tolerability and Pharmacokinetics of SBC-102 in Adult Participants With Liver Dysfunction Due to Lysosomal Acid Lipase DeficiencyCholesterol Ester Storage Disease(CESD);Lysosomal Acid Lipase Deficiency;LAL-DeficiencyDrug: Sebelipase alfa 0.35 mg/kg;Drug: Sebelipase alfa 1 mg/kg;Drug: Sebelipase alfa 3 mg/kgAlexion PharmaceuticalsNULLCompleted18 Years65 YearsAll9Phase 1/Phase 2United States;Czechia;France;United Kingdom;Czech Republic
600EUCTR2011-000032-28-GB
(EUCTR)
18/04/201117/01/2011A research study to look at the safety, effectiveness and the effects on the body of a new drug, SBC-102, in children with growth problems caused by a deficiency in the enzyme that breaks down fatsAn Open Label, Multicenter, Dose Escalation Study to Evaluate the Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of SBC-102 in Children with Growth Failure Due to Lysosomal Acid Lipase Deficiency - SBC-102 in Children with Growth Failure Due to Lysosomal Acid Lipase Deficiency Growth failure in children due to lysosomal acid lipase deficiency (Wolman disease).
MedDRA version: 14.1;Level: SOC;Classification code 10027433;Term: Metabolism and nutrition disorders;System Organ Class: 10027433 - Metabolism and nutrition disorders
MedDRA version: 14.1;Level: HLGT;Classification code 10021605;Term: Inborn errors of metabolism;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: recombinant human lysosomal acid lipase (rhLAL)
Product Code: SBC-102
INN or Proposed INN: not available
Other descriptive name: recombinant human lysosomal acid lipase (rhLAL)
Synageva Biopharma Corp.NULLNot RecruitingFemale: yes
Male: yes
10Phase 1;Phase 2;Phase 3France;United States;Taiwan;Ireland;Germany;Italy;United Kingdom
601EUCTR2010-022636-37-GB
(EUCTR)
15/04/201122/12/2010The ATTRACT Study is a phase 3 clinical study that will measure theeffectiveness and safety of a new investigational medication, when compared to Enzyme Replacement Therapy, for the treatment of patients with Fabry diseaseA RANDOMIZED, OPEN-LABEL STUDY TO COMPARE THE EFFICACY AND SAFETY OF AT1001 AND ENZYME REPLACEMENT THERAPY (ERT) IN PATIENTS WITH FABRY DISEASE AND AT1001-RESPONSIVE GLA MUTATIONS, WHO WERE PREVIOUSLY TREATED WITH ERT - ATTRACT Fabry disease
MedDRA version: 16.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: migalastat hydrochloride
Product Code: AT1001
INN or Proposed INN: migalastat hydrochloride
Other descriptive name: 1-deoxygalactonojirimycin hydrochloride
Product Name: Inactive Reminder Capsules
Product Code: Inactive Reminder Capsules
INN or Proposed INN: Not applicable
Trade Name: Replagal
INN or Proposed INN: AGALSIDASE ALFA
Trade Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Amicus Therapeutics, Inc.NULLNot RecruitingFemale: yes
Male: yes
68Phase 3United States;France;Greece;Belgium;Brazil;Denmark;Austria;Australia;Germany;Japan;Italy;United Kingdom
602NCT01372228
(ClinicalTrials.gov)
April 201110/6/2011Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic DisordersPhase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic DisordersHurler Syndrome (MPS I);Hurler-Scheie Syndrome;Hunter Syndrome (MPS II);Sanfilippo Syndrome (MPS III);Krabbe Disease (Globoid Leukodystrophy);Metachromatic Leukodystrophy (MLD);Adrenoleukodystrophy (ALD and AMN);Sandhoff Disease;Tay Sachs Disease;Pelizaeus Merzbacher (PMD);Niemann-Pick Disease;Alpha-mannosidosisBiological: hematopoietic stem cell infusionTalaris Therapeutics Inc.Duke UniversityTerminatedN/AN/AAll30Phase 1/Phase 2United States
603EUCTR2007-005543-22-SI
(EUCTR)
18/03/201124/02/2011An investigation of 3 dosages of Replagal in adult patients with Fabry diseaseA Multi-center, Open-Label, Randomized Study Evaluating the Safety andEfficacy of Three Dosing Regimens of Replagal Enzyme ReplacementTherapy in Adult Patients with Fabry Disease Fabry Disease
MedDRA version: 14.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Trade Name: Replagal
Product Name: Replagal
INN or Proposed INN: agalsidase alpha
Other descriptive name: Replagal
Shire Human Genetic Therapies, Inc. (Shire HGT)NULLNot RecruitingFemale: yes
Male: yes
43United States;Czech Republic;Slovenia;Paraguay;Finland;Australia;United Kingdom
604EUCTR2010-024068-16-GB
(EUCTR)
08/03/201110/01/2011SBC-102 in patients with liver dysfunction due to LAL deficiencyAn open label multicenter study to evaluate the safety, tolerability and pharmacokinetics of SBC-102 in adult patients with liver dysfunction due to lysosomal acid lipase deficiency. - SBC-102 in patients with liver dysfunction due to LAL deficiency Lysosomal Acid Lipase (LAL) Deficiency is a rare autosomal recessive lipid storage disorder that is caused by deficient activity or absence, of the lysosomal enzyme, LAL. It is an extremely rare disorder, with an estimated prevalence of less than 0.2 lives per 100,000. Although a single disease, LAL Deficiency has two phenotypes, Cholesteryl Ester Storage Disease (CESD) and Wolman Disease (WD). Both forms of the disease lead to the accumulation of fats, in various tissues and cell types.
MedDRA version: 14.0;Level: SOC;Classification code 10027433;Term: Metabolism and nutrition disorders;System Organ Class: 10027433 - Metabolism and nutrition disorders
MedDRA version: 14.0;Level: HLGT;Classification code 10021605;Term: Inborn errors of metabolism;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders
Product Name: recombinant human lysosomal acid lipase (rhLAL)
Product Code: SBC-102
INN or Proposed INN: not available
Other descriptive name: recombinant human lysosomal acid lipase (rhLAL)
Synageva Biopharma Corp.NULLNot RecruitingFemale: yes
Male: yes
9Czech Republic;United Kingdom
605NCT01299727
(ClinicalTrials.gov)
March 1, 201116/2/2011Extension of Study HGT-SAN-055 Evaluating Administration of rhHNS in Patients With Sanfilippo Syndrome Type A (MPS IIIA)An Open-Label Extension of Study HGT-SAN-055 Evaluating Long Term Safety and Clinical Outcomes of Intrathecal Administration of rhHNS in Patients With Sanfilippo Syndrome Type A (MPS IIIA)Sanfilippo SyndromeBiological: rhHNS-10 mg;Biological: rhHNS-45 mg;Biological: rhHNS-90 mgShireNULLTerminated3 YearsN/AAll12Phase 1/Phase 2Netherlands;United Kingdom
606NCT01614431
(ClinicalTrials.gov)
March 201119/5/2012N Acetyl Cysteine for Cystinosis PatientsN Acetyl Cysteine Can Decrease the Progression of Renal Disease in Cystinosis PatientsRenal Disease;CystinosisDrug: N acetyl cysteineUniversity of Sao PauloFundação de Amparo à Pesquisa do Estado de São PauloCompleted1 Year18 YearsBoth23Phase 4NULL
607EUCTR2010-021348-16-NL
(EUCTR)
17/02/201109/02/2011Safety, Tolerability, Ascending Dose and Dose Frequency Study of rhHNS Via an IDDD in MPS IIIA PatientsAn Open-Label Extension of Study HGT-SAN-055 Evaluating Long Term Safety and Clinical Outcomes of Intrathecal Administration of rhHNS in Patients with Sanfilippo Syndrome Type A (MPS IIIA) Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 19.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 19.0;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Recombinant human heparan N-sulfatase (rhHNS)
Product Code: HGT-1410
INN or Proposed INN: Not available
Other descriptive name: Recombinant human heparan N-sulfatase
Shire Human Genetic Therapies, IncNULLNot RecruitingFemale: yes
Male: yes
12Phase 1;Phase 2Netherlands;United Kingdom
608EUCTR2010-021348-16-GB
(EUCTR)
09/02/201120/12/2010Extension of Study HGT-SAN-055 Evaluating Administration of rhHNS in Patients With Sanfilippo Syndrome Type A (MPS IIIA)An Open-Label Extension of Study HGT-SAN-055 Evaluating Long Term Safety and Clinical Outcomes of Intrathecal Administration of rhHNS in Patients with Sanfilippo Syndrome Type A (MPS IIIA) Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 19.1;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 19.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Recombinant human heparan N-sulfatase (rhHNS)
Product Code: HGT-1410
INN or Proposed INN: Not available
Other descriptive name: Recombinant human heparan N-sulfatase
Shire Human Genetic Therapies, IncNULLNot RecruitingFemale: yes
Male: yes
7Phase 1;Phase 2Netherlands;United Kingdom
609EUCTR2009-015811-42-PT
(EUCTR)
04/02/201109/11/2010A study with Eliglustat Tartrate (Genz-112638) in Patients with Gaucher disease to Evaluate Once Daily Dosing versus Twice DailyA Phase 3, Randomized, Multi-Center, Multi-National, Double-Blind Study to Evaluate the Efficacy, Safety, and Pharmacokinetics of Once Daily versus Twice Daily Dosing of Genz-112638 in Patients with Gaucher Disease Type 1 who have Demonstrated Clinical Stability on a Twice Daily Dose of Genz-112638 - EDGE Gaucher Disease Type I
MedDRA version: 14.1;Level: PT;Classification code 10018048;Term: Gaucher's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Genz-112638
Product Code: Genz-112638
INN or Proposed INN: Eliglustat
Other descriptive name: not available
Product Name: Genz-112638
Product Code: Genz-112638
INN or Proposed INN: Eliglustat
Other descriptive name: not available
Product Name: Genz-112638
Product Code: Genz-112638
INN or Proposed INN: Eliglustat
Other descriptive name: not available
Genzyme Europe B.V.NULLNot RecruitingFemale: yes
Male: yes
170Phase 3United States;Serbia;Portugal;Greece;Austria;Russian Federation;India;France;Canada;Argentina;Brazil;Romania;Croatia;Australia;Netherlands;China;Japan;Sweden
610NCT01196871
(ClinicalTrials.gov)
February 2, 20117/9/2010Drug-Drug Interaction Study Between AT1001 (Migalastat Hydrochloride) and Agalsidase in Participants With Fabry DiseaseAn Open-label Phase 2A Study to Investigate Drug-Drug Interactions Between AT1001 (Migalastat Hydrochloride) and Agalsidase in Subjects With Fabry DiseaseFabry DiseaseDrug: Migalastat HCl;Biological: Agalsidase Beta;Biological: Agalsidase AlfaAmicus TherapeuticsNULLCompleted18 Years65 YearsMale20Phase 2United States;Australia;Belgium;Canada;Netherlands;France;United Kingdom
611NCT01275066
(ClinicalTrials.gov)
February 201110/1/2011A Double-Blind Study to Evaluate the Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome)A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multinational Clinical Study to Evaluate the Efficacy and Safety of 2.0 mg/kg/Week and 2.0 mg/kg/Every Other Week BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome)MPS IV ADrug: BMN 110 Weekly;Drug: Placebo;Drug: BMN 110 Every Other WeekBioMarin PharmaceuticalNULLCompleted5 YearsN/AAll177Phase 3United States;Argentina;Brazil;Canada;Colombia;Denmark;France;Germany;Italy;Japan;Korea, Republic of;Netherlands;Portugal;Qatar;Saudi Arabia;Taiwan;United Kingdom;Australia;Norway;Poland;Switzerland;Turkey
612EUCTR2010-020048-36-GB
(EUCTR)
31/01/201117/06/2010A safety, tolerability and preliminary efficacy study of idursulfase-IT in patients with Hunter syndrome associated with learning disabilityA Phase I/II, Randomized, Safety and Ascending Dose Ranging Study of Intrathecal Idursulfase-IT administered in conjunction with intravenous Elaprase in Pediatric Patients with Hunter Syndrome and Cognitive Impairment Treatment of Hunter syndrome and cognitive impairment
MedDRA version: 14.1;Level: PT;Classification code 10056889;Term: Mucopolysaccharidosis II;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Idursulfase (I2S)-IT
Product Code: I2S-IT
INN or Proposed INN: NA
Other descriptive name: Idursulfase-IT
Shire HGT, IncNULLNot Recruiting Female: no
Male: yes
20 Human pharmacology (Phase 1): yes Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noUnited States;United Kingdom
613EUCTR2009-015811-42-GR
(EUCTR)
25/01/201119/05/2011A Phase 3, Randomized, Multi-Center, Multi-National, Double-Blind Study to Evaluate the Efficacy, Safety, and Pharmacokinetics of Once Daily versus Twice Daily Dosing of Genz-112638 in Patients with Gaucher Disease Type 1 who have Demonstrated Clinical Stability on a Twice Daily Dose of Genz-112638 - EDGEA Phase 3, Randomized, Multi-Center, Multi-National, Double-Blind Study to Evaluate the Efficacy, Safety, and Pharmacokinetics of Once Daily versus Twice Daily Dosing of Genz-112638 in Patients with Gaucher Disease Type 1 who have Demonstrated Clinical Stability on a Twice Daily Dose of Genz-112638 - EDGE Gaucher Disease Type I
MedDRA version: 12.1;Level: PT;Classification code 10018048;Term: Gaucher's disease
Product Name: Genz-112638
Product Code: Genz-112638
INN or Proposed INN: Eliglustat
Other descriptive name: not available
Product Name: Genz-112638
Product Code: Genz-112638
INN or Proposed INN: Eliglustat
Other descriptive name: not available
Product Name: Genz-112638
Product Code: Genz-112638
INN or Proposed INN: Eliglustat
Other descriptive name: not available
Genzyme Europe B.V.NULLNot RecruitingFemale: yes
Male: yes
234Phase 3Portugal;Greece;Austria;Sweden
614EUCTR2010-022636-37-BE
(EUCTR)
18/01/201116/12/2010The ATTRACT Study is a phase 3 clinical study that will measure theeffectiveness and safety of a new investigational medication, when compared to Enzyme Replacement Therapy, for the treatment of patients with Fabry diseaseA RANDOMIZED, OPEN-LABEL STUDY TO COMPARE THE EFFICACY AND SAFETY OF AT1001 AND ENZYME REPLACEMENT THERAPY (ERT) IN PATIENTS WITH FABRY DISEASE AND AT1001-RESPONSIVE GLA MUTATIONS, WHO WERE PREVIOUSLY TREATED WITH ERT - ATTRACT Fabry disease
MedDRA version: 16.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: migalastat hydrochloride
Product Code: AT1001
INN or Proposed INN: migalastat hydrochloride
Other descriptive name: 1-deoxygalactonojirimycin hydrochloride
Product Name: Inactive Reminder Capsules
Product Code: Inactive Reminder Capsules
INN or Proposed INN: Not applicable
Trade Name: Replagal
INN or Proposed INN: AGALSIDASE ALFA
Trade Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Amicus Therapeutics, Inc.NULLNot RecruitingFemale: yes
Male: yes
68Phase 3United States;France;Greece;Brazil;Belgium;Denmark;Austria;Australia;Germany;United Kingdom;Japan;Italy
615EUCTR2009-015811-42-AT
(EUCTR)
05/01/201122/11/2010A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease to Evaluate Once Daily Versus Twice Daily Dosing (EDGE)A Phase 3, Randomized, Multi-Center, Multi-National, Double-Blind Study to Evaluate the Efficacy, Safety, and Pharmacokinetics of Once Daily versus Twice Daily Dosing of Genz-112638 in Patients with Gaucher Disease Type 1 who have Demonstrated Clinical Stability on a Twice Daily Dose of Genz-112638 - EDGE Gaucher Disease Type I
MedDRA version: 15.0;Level: PT;Classification code 10018048;Term: Gaucher's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Genz-112638
Product Code: Genz-112638
INN or Proposed INN: Eliglustat
Other descriptive name: not available
Product Name: Genz-112638
Product Code: Genz-112638
INN or Proposed INN: Eliglustat
Other descriptive name: not available
Product Name: Genz-112638
Product Code: Genz-112638
INN or Proposed INN: Eliglustat
Other descriptive name: not available
Genzyme Europe B.V.NULLNot RecruitingFemale: yes
Male: yes
170Phase 3Portugal;Serbia;United States;Greece;Austria;Russian Federation;India;France;Canada;Argentina;Brazil;Romania;Croatia;Australia;Netherlands;Japan;China;Sweden
616NCT01161914
(ClinicalTrials.gov)
January 201111/7/2010The Safety and Efficacy Study of ISU302 in Patient With Type I Gaucher DiseaseA Multi-national Randomized Double Blinded Phase III Study to Evaluate the Safety and Efficacy of ISU302(Imiglucerase for Injection) or Cerezyme in Patient With Type I Gaucher DiseaseGaucher DiseaseDrug: Cerezyme®;Drug: ISU302ISU Abxis Co., Ltd.NULLWithdrawn2 Years75 YearsBoth0Phase 3NULL
617NCT01285700
(ClinicalTrials.gov)
January 201125/1/2011Dose Finding Study of Recombinant Human Alpha-mannosidase for the Treatment of Patients With Alpha-mannosidosisA Single Center, Randomized, Open-label, Multiple-dose Study of the Efficacy and Long-term Safety of rhLAMAN (Recombinant Human Alpha-mannosidase or Lamazym) for the Treatment of Patients With Alpha-mannosidosis.Alpha MannosidosisDrug: LamazymZymenex A/SEuropean CommissionActive, not recruiting5 Years21 YearsBoth10Phase 2Denmark
618EUCTR2010-020198-18-GB
(EUCTR)
30/12/201015/11/2010A Double-Blind Study to Evaluate the Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVAA Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multinational Clinical Study to Evaluate the Efficacy and Safety of 2.0 mg/kg/week and 2.0 mg/kg/every other week BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome) Mucopolysaccharidosis Type IVA
MedDRA version: 14.0;Level: PT;Classification code 10028095;Term: Mucopolysaccharidosis IV;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: BMN 110
Product Code: N/A
INN or Proposed INN: N/A
Other descriptive name: recombinant human N-acetylgalactosamine-6-sulfatase, BMN 110 drug substance
BioMarin Pharmaceutical IncNULLNot RecruitingFemale: yes
Male: yes
162Phase 3United States;Portugal;Qatar;Taiwan;Saudi Arabia;Spain;Turkey;Colombia;Switzerland;United Kingdom;Italy;France;Canada;Argentina;Poland;Brazil;Australia;Denmark;Norway;Germany;Netherlands;Japan;Korea, Republic of
619EUCTR2009-015811-42-SE
(EUCTR)
20/12/201001/11/2010A study of Eliglustat Tartrate (Genz-112638) in Patients with Gaucher Disease to Evaluate Once Daily versus Twice Daily DosingA Phase 3, Randomized, Multi-Center, Multi-National, Double-Blind Study to Evaluate the Efficacy, Safety, and Pharmacokinetics of Once Daily versus Twice Daily Dosing of Genz-112638 in Patients with Gaucher Disease Type 1 who have Demonstrated Clinical Stability on a Twice Daily Dose of Genz-112638 - EDGE Gaucher Disease Type I
MedDRA version: 16.0;Level: PT;Classification code 10018048;Term: Gaucher's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Genz-112638
Product Code: Genz-112638
INN or Proposed INN: Eliglustat
Other descriptive name: not available
Product Name: Genz-112638
Product Code: Genz-112638
INN or Proposed INN: Eliglustat
Other descriptive name: not available
Product Name: Genz-112638
Product Code: Genz-112638
INN or Proposed INN: Eliglustat
Other descriptive name: not available
Genzyme Europe B.V.NULLNot RecruitingFemale: yes
Male: yes
170Phase 3Portugal;Serbia;United States;Greece;Austria;Russian Federation;India;France;Canada;Argentina;Brazil;Romania;Croatia;Australia;Netherlands;Japan;China;Sweden
620EUCTR2010-018365-34-NL
(EUCTR)
14/12/201006/07/2010A Long-Term, Open-Label, Safety and Efficacy Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Patients with Nephropathic CystinosisA Long-Term, Open-Label, Safety and Efficacy Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Patients with Nephropathic Cystinosis - RP103-04 Cystinosis
MedDRA version: 20.0;Level: PT;Classification code 10011777;Term: Cystinosis;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Trade Name: PROCYSBI
Product Name: Cysteamine bitartrate (INN: mercaptamine bitartrate )
Product Code: RP103
INN or Proposed INN: mercaptamine bitartrate
Trade Name: PROCYSBI
Product Name: Cysteamine bitartrate (INN: mercaptamine bitartrate )
Product Code: RP103
INN or Proposed INN: mercaptamine bitartrate
Horizon Pharma USA, Inc.NULLNot RecruitingFemale: yes
Male: yes
60Phase 3France;United States;Netherlands
621NCT01242111
(ClinicalTrials.gov)
November 201028/10/2010A Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome)A Multicenter, Multinational, Open-Label, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome)MPS IV A;Mucopolysaccharidosis IVA;Morquio A SyndromeDrug: BMN 110BioMarin PharmaceuticalNULLTerminatedN/AN/AAll20Phase 1/Phase 2United Kingdom
622NCT01238315
(ClinicalTrials.gov)
November 20105/11/2010Safety and Efficacy Study of HuCNS-SC in Subjects With Neuronal Ceroid LipofuscinosisA Phase Ib Study of the Safety and Preliminary Efficacy of Allogeneic Intracerebral Human Central Nervous System Stem Cell Transplantation in Subjects With Non-Refractory Infantile and Late Infantile Neuronal Ceroid LipofuscinosisNeuronal Ceroid LipofuscinosisBiological: HuCNS-SCStemCells, Inc.NULLWithdrawn6 Months6 YearsBoth0Phase 1United States
623NCT00418821
(ClinicalTrials.gov)
October 22, 20103/1/2007A Study of the Effect of Aldurazyme® (Laronidase) Treatment on Lactation in Female Patients With Mucopolysaccharidosis I (MPS I) and Their Breastfed InfantsA Multicenter, Multinational, Open-Label Study of the Effects of Aldurazyme (Laronidase) Treatment on Lactation in Women With Mucopolysaccharidosis I (MPS I) and Their Breastfed InfantsMucopolysaccharidosis I;Hurler's Syndrome;Hurler-Scheie Syndrome;ScheieBiological: Aldurazyme (laronidase)Genzyme, a Sanofi CompanyBioMarin/Genzyme LLCRecruitingN/AN/AFemale2Phase 4Italy;United States
624EUCTR2009-017882-42-NL
(EUCTR)
19/10/201025/06/2010A Randomized, Crossover, Pharmacokinetic and PharmacodynamicStudy to Determine the Safety and Efficacy of Cysteamine BitartrateDelayed-release Capsules (RP103), Compared to Cystagon® in Patientswith Nephropathic CystinosisA Randomized, Crossover, Pharmacokinetic and PharmacodynamicStudy to Determine the Safety and Efficacy of Cysteamine BitartrateDelayed-release Capsules (RP103), Compared to Cystagon® in Patientswith Nephropathic Cystinosis Cystinosis
MedDRA version: 12.1;Level: LLT;Classification code 10011777;Term: Cystinosis
Product Name: Cysteamine bitartrate (INN: mercaptamine bitartrate
Product Code: RP103
INN or Proposed INN: mercaptamine bitartrate
Trade Name: Cystagon
Raptor Therapeutics Inc.NULLNot RecruitingFemale: yes
Male: yes
20Netherlands;France
625EUCTR2010-021048-16-GB
(EUCTR)
07/10/201017/06/2010A Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome)A Multicenter, Multinational, Open-Label, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome) Mucopolysaccharidosis Type IVA
MedDRA version: 16.1;Level: PT;Classification code 10028095;Term: Mucopolysaccharidosis IV;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: BMN 110
Product Code: N/A
INN or Proposed INN: Not available
Other descriptive name: recombinant human N-acetylgalactosamine-6-sulfatase, BMN 110 drug substance
BioMarin Pharmaceutical Inc.NULLNot Recruiting Female: yes
Male: yes
20 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noUnited Kingdom
626EUCTR2010-022085-26-DK
(EUCTR)
05/10/201023/08/2010A single center, randomized, open-label, multiple-dose study of the efficacy and long-term safety of rhLAMAN (recombinant human alpha-mannosidase or Lamazym) for the treatment of patients with alpha-mannosidosisA single center, randomized, open-label, multiple-dose study of the efficacy and long-term safety of rhLAMAN (recombinant human alpha-mannosidase or Lamazym) for the treatment of patients with alpha-mannosidosis Treatment of alpha-MannosidosisProduct Name: Lamazym
Product Code: rhLAMAN
INN or Proposed INN: recombinant human alpha-mannosidase
Zymenex A/SNULLNot RecruitingFemale: yes
Male: yes
10Denmark
627EUCTR2010-022084-36-DK
(EUCTR)
05/10/201020/08/2010A single center, open-label, dose escalation study of the safety and pharmacokinetics of rhLAMAN (recombinant human alpha-mannosidase or Lamazym) for the treatment of patients with alpha-mannosidosis.A single center, open-label, dose escalation study of the safety and pharmacokinetics of rhLAMAN (recombinant human alpha-mannosidase or Lamazym) for the treatment of patients with alpha-mannosidosis. Treatment of alpha-MannosidosisProduct Name: Lamazym
Product Code: rhLAMAN
INN or Proposed INN: recombinant human alpha-mannosidase
Zymenex A/SNULLNot RecruitingFemale: yes
Male: yes
10Denmark
628NCT01268358
(ClinicalTrials.gov)
October 201029/12/2010Safety Study of Recombinant Human Alpha-mannosidase for the Treatment of Patients With Alpha-mannosidosisA Single Center, Open-label, Dose Escalation Study of the Safety and Pharmacokinetics of rhLAMAN (Recombinant Human Alpha-mannosidase or Lamazym) for the Treatment of Patients With Alpha-mannosidosis.Alpha MannosidosisDrug: LamazymZymenex A/SEuropean CommissionCompleted5 Years20 YearsAll10Phase 1NULL
629NCT01881633
(ClinicalTrials.gov)
October 201014/6/2013A Study of the Tolerability, Safety, and Pharmacokinetics of ISU302 in Healthy VolunteersA Dose Block-randomized, Double-blind, Placebo-controlled, Single Dosing, Dose-escalation Phase I Clinical Trial to Evaluate the Tolerability, Safety, and Pharmacokinetics of ISU302 in Healthy VolunteersGaucher DiseaseDrug: ISU302;Drug: PlaceboISU Abxis Co., Ltd.NULLCompleted20 Years45 YearsMale24Phase 1NULL
630EUCTR2007-007003-33-IT
(EUCTR)
16/09/201027/12/2010A Multicenter, Multinational, Open-Label Study of the Effects of Aldurazyme(laronidase) Treatment on Lactation in Women with Mucopolysaccharidosis I (MPS I) and Their Breastfed Infants - NDA Multicenter, Multinational, Open-Label Study of the Effects of Aldurazyme(laronidase) Treatment on Lactation in Women with Mucopolysaccharidosis I (MPS I) and Their Breastfed Infants - ND mucocopolysaccharidoses I
MedDRA version: 9.1;Level: LLT;Classification code 10056886
Trade Name: ALDURAZYME*INFUS 1FL 5ML 500U
INN or Proposed INN: Laronidase
Genzyme Europe BVNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: no
10Italy
631EUCTR2010-020098-18-FR
(EUCTR)
09/09/201012/07/2010CrYSTobs A cohort of patients with cystinosis : compliance to cysteamine and neurological complicationsAn auxiliary study to Raptor RP103 03 and RP103 04 - CrYSTobsCrYSTobs A cohort of patients with cystinosis : compliance to cysteamine and neurological complicationsAn auxiliary study to Raptor RP103 03 and RP103 04 - CrYSTobs nephropatic cystinosis
MedDRA version: 12.1;Level: LLT;Classification code 10011777;Term: Cystinosis
Trade Name: CYSTAGON
Product Name: CYSTAGON
INN or Proposed INN: MERCAPTAMINE BITARTRATE
Other descriptive name: CYSTEAMINE
Product Name: RP 103
INN or Proposed INN: MERCAPTAMINE BITARTRATE
Other descriptive name: CYSTEAMINE
Product Name: RP 103
INN or Proposed INN: MERCAPTAMINE BITARTRATE
Other descriptive name: CYSTEAMINE
HOSPICES CIVILS DE LYONNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
France
632NCT01178164
(ClinicalTrials.gov)
September 20104/8/2010Prevalence of Fabry's Disease in a Population of Patients With Chronic PainsPrevalence of Fabry's Disease in a Population of Patients With Chronic PainsPain;Fabry's DiseaseGenetic: Blood sampling for biological and genetic analysisUniversity Hospital, BordeauxNULLCompleted6 Years65 YearsBoth137N/AFrance
633NCT01197378
(ClinicalTrials.gov)
August 27, 20103/9/2010Long-Term Safety Follow-up Study of Cysteamine Bitartrate Delayed-release Capsules (RP103)A Long-Term, Open-Label, Safety and Efficacy Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Patients With CystinosisCystinosisDrug: Cysteamine Bitartrate Delayed-release CapsulesHorizon Pharma USA, Inc.NULLCompleted1 YearN/AAll60Phase 3United States;France;Netherlands
634NCT01161576
(ClinicalTrials.gov)
August 19, 201022/3/2010Safety Study of a Gene Transfer Vector (Rh.10) for Children With Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL)Direct CNS Administration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Serotype rh.10 Expressing the Human CLN2 cDNA to Children With Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL)Batten Disease;Late-Infantile Neuronal Ceroid LipofuscinosisBiological: AAVrh.10CUhCLN2 vector 9.0x10^11 genome copies;Biological: AAVrh.10CUhCLN2 vector 2.85x10^11 genome copiesWeill Medical College of Cornell UniversityNational Institutes of Health (NIH)Completed2 Years18 YearsAll12Phase 1United States
635EUCTR2009-017882-42-FR
(EUCTR)
12/08/201014/06/2010A Randomized, Crossover, Pharmacokinetic and PharmacodynamicStudy to Determine the Safety and Efficacy of Cysteamine BitartrateDelayed-release Capsules (RP103), Compared to Cystagon® in Patientswith Nephropathic CystinosisA Randomized, Crossover, Pharmacokinetic and PharmacodynamicStudy to Determine the Safety and Efficacy of Cysteamine BitartrateDelayed-release Capsules (RP103), Compared to Cystagon® in Patientswith Nephropathic Cystinosis Cystinosis
MedDRA version: 12.1;Level: LLT;Classification code 10011777;Term: Cystinosis
Product Name: Cysteamine bitartrate (INN: mercaptamine bitartrate )
Product Code: RP103
INN or Proposed INN: mercaptamine bitartrate
INN or Proposed INN: mercaptamine bitartrate
Trade Name: Cystagon
Raptor Therapeutics Inc.NULLNot RecruitingFemale: yes
Male: yes
Phase 3France;Netherlands
636NCT01506141
(ClinicalTrials.gov)
August 1, 201015/12/2011Extension Study of HGT-HIT-045 Evaluating Long-Term Safety and Clinical Outcomes of Idursulfase-IT in Conjunction With Elaprase in Pediatric Participants With Hunter Syndrome and Cognitive ImpairmentAn Open-Label Extension of Study HGT-HIT-045 Evaluating Long-Term Safety and Clinical Outcomes of Intrathecal Idursulfase-IT Administered in Conjunction With Intravenous Elaprase® in Pediatric Patients With Hunter Syndrome and Cognitive ImpairmentHunter SyndromeDrug: Idursulfase-IT;Drug: ElapraseShireNULLActive, not recruiting3 Years18 YearsMale25Phase 1/Phase 2United States;Canada;United Kingdom
637NCT01132690
(ClinicalTrials.gov)
August 201026/5/2010A Safety and Efficacy Study of Two Dose Levels of Taliglucerase Alfa in Pediatric Subjects With Gaucher DiseaseA Multicenter, Double-blind, Randomized Safety and Efficacy Study of Two Dose Levels of Taliglucerase Alfa in Pediatric Subjects With Gaucher DiseaseGaucher DiseaseDrug: Taliglucerase alfaPfizerNULLCompleted2 Years17 YearsAll11Phase 4Israel;Paraguay;South Africa;United States
638NCT01155778
(ClinicalTrials.gov)
June 1, 201024/6/2010Safety, Tolerability, Ascending Dose and Dose Frequency Study of rhHNS Via an IDDD in MPS IIIA PatientsA Phase I/II Safety, Tolerability, Ascending Dose and Dose Frequency Study of Recombinant Human Heparan N-Sulfatase (rhHNS) Intrathecal Administration Via an Intrathecal Drug Delivery Device in Patients With Sanfilippo Syndrome Type A (MPS IIIA)Mucopolysaccharidosis (MPS)Biological: Recombinant human heparan N-sulfatase (rhHNS)ShireNULLCompleted3 YearsN/AAll12Phase 1/Phase 2Netherlands;United Kingdom
639NCT01074944
(ClinicalTrials.gov)
June 201023/2/2010A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease to Evaluate Once Daily Versus Twice Daily Dosing (EDGE)A Phase 3, Randomized, Multi-Center, Multi-National, Double-Blind Study to Evaluate the Efficacy, Safety and Pharmacokinetics of Once Daily Versus Twice Daily Dosing of Genz-112638 in Patients With Gaucher Disease Type 1 Who Have Demonstrated Clinical Stability on a Twice Daily Dose of Genz-112638Gaucher DiseaseDrug: Eliglustat tartrateGenzyme, a Sanofi CompanyNULLCompleted18 YearsN/AAll170Phase 3United States;Australia;Austria;Brazil;Canada;China;Croatia;France;Greece;India;Japan;Netherlands;Portugal;Romania;Russian Federation;Serbia;Sweden
640NCT01000961
(ClinicalTrials.gov)
June 201022/10/2009Phase 3 Study of Cysteamine Bitartrate Delayed-release (RP103) Compared to Cystagon® in Patients With CystinosisA Randomized, Crossover Pharmacokinetic and Pharmacodynamic Study to Determine the Safety and Efficacy of Cysteamine Bitartrate Delayed-release Capsules (RP103), Compared to Cystagon® in Patients With Nephropathic CystinosisCystinosisDrug: Cystagon® (Cysteamine Bitartrate);Drug: Cysteamine Bitartrate Delayed-release Capsules (RP103)Horizon Pharma USA, Inc.NULLCompleted6 YearsN/AAll43Phase 3United States;France;Netherlands
641EUCTR2007-005543-22-FI
(EUCTR)
18/05/201023/03/2010An investigation of 3 dosages of Replagal in adult patients with Fabry diseaseA Multi-center, Open-Label, Randomized Study Evaluating the Safety andEfficacy of Three Dosing Regimens of Replagal Enzyme ReplacementTherapy in Adult Patients with Fabry Disease Fabry Disease
MedDRA version: 14.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Trade Name: Replagal
Product Name: Replagal
INN or Proposed INN: agalsidase alpha
Other descriptive name: Replagal
Shire Human Genetic Therapies, Inc. (Shire HGT)NULLNot RecruitingFemale: yes
Male: yes
43Phase 3;Phase 4United States;Czech Republic;Slovenia;Paraguay;Finland;Australia;United Kingdom
642EUCTR2007-005543-22-GB
(EUCTR)
06/05/201017/08/2009An investigation of 3 dosages of Replagal in adult patients with Fabry disease A Multi-center, Open-Label, Randomized Study Evaluating the Safety and Efficacy of Three Dosing Regimens of Replagal Enzyme Replacement Therapy in Adult Patients with Fabry Disease Fabry Disease
MedDRA version: 14.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Trade Name: Replagal
Product Name: Replagal
INN or Proposed INN: agalsidase alpha
Other descriptive name: Replagal
Shire Human Genetic Therapies, Inc. (Shire HGT)NULLNot Recruiting Female: yes
Male: yes
43 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): yesUnited States;Czech Republic;Slovenia;Paraguay;Finland;Australia;United Kingdom
643NCT01301898
(ClinicalTrials.gov)
May 201022/2/2011To Evaluate the Safety and Efficacy of GC1111 (Recombinant Human Iduronate-2-sulfatase) in Hunter Syndrome PatientsRandomized, Single-blind, Active-controlled, Phase 1/2 Study to Evaluate the Safety and Efficacy of GC1111 (Recombinant Human Iduronate-2-sulfatase) in Hunter Syndrome (Mucopolysaccharidosis II) PatientsMucopolysaccharidosis IIDrug: GC1111_0.5mg/kg;Drug: GC1111_1.0mg/kg;Drug: Elaprase_0.5mg/kgGreen Cross CorporationNULLCompleted6 Years35 YearsMale31Phase 1/Phase 2Korea, Republic of
644NCT01414985
(ClinicalTrials.gov)
April 15, 201013/12/2010AAVRh.10 Administered to Children With Late Infantile Neuronal Ceroid LipofuscinosisDirect CNS Administration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Serotype rh.10 Expressing the Human CLN2 cDNA to Children With LINCL With Uncommon Genotypes and/or Moderate to Severe ImpairmentLate Infantile Neuronal Ceroid Lipofuscinosis;Batten DiseaseBiological: AAVrh.10CUCLN2Weill Medical College of Cornell UniversityNULLCompleted3 Years18 YearsAll8Phase 1/Phase 2United States
645NCT01124643
(ClinicalTrials.gov)
April 13, 201023/4/2010Extension Study of TKT028 Evaluating Safety and Clinical Outcomes of Replagal® in Adult Patients With Fabry DiseaseAn Open-label Extension of Study TKT028 Evaluating Safety and Clinical Outcomes of Replagal® Enzyme Replacement Therapy Administered to Adult Patients With Fabry DiseaseFabry DiseaseBiological: ReplagalShireNULLCompleted18 YearsN/AAll35Phase 3United States;Australia;Czechia;Finland;Poland;Slovenia;United Kingdom;Czech Republic;Paraguay
646NCT01560182
(ClinicalTrials.gov)
April 9, 201016/3/2012Gene Therapy for Metachromatic Leukodystrophy (MLD)A Phase I/II Clinical Trial of Hematopoietic Stem Cell Gene Therapy for the Treatment of Metachromatic LeukodystrophyLysosomal Storage Disease;Metachromatic LeukodystrophyGenetic: OTL-200 Gene TherapyOrchard TherapeuticsOspedale San RaffaeleActive, not recruitingN/A7 YearsAll20Phase 1/Phase 2Italy
647NCT01136304
(ClinicalTrials.gov)
April 201031/5/2010Validating a New Severity Score System for Adults With Type 1 Gaucher Disease (GD1)Retrospective and Prospective Validation of a Disease Severity Score System (DS3) for Adults With Type 1 Gaucher Disease (GD1)Gaucher DiseaseDrug: ImigluceraseUniversity Research Foundation for Lysosomal Storage Diseases, Inc.University of PittsburghCompleted18 YearsN/ABoth173N/AUnited States
648EUCTR2009-013459-31-ES
(EUCTR)
30/03/201022/12/2009ESTUDIO DOBLE CIEGO, ALEATORIZADO Y CONTROLADO CON PLACEBO PARA EVALUAR LA EFICACIA, LA SEGURIDAD Y LA FARMACODINAMIA DE AT1001 EN PACIENTES CON ENFERMEDAD DE FABRY Y MUTACIONES EN GLA SENSIBLES A AT1001.A DOUBLE-BLIND, RANDOMIZED, PLACEBO-CONTROLLED STUDY TO EVALUATE THE EFFICACY, SAFETY AND PHARMACODYNAMICS OF AT1001 IN PATIENTS WITH FABRY DISEASE AND AT1001-RESPONSIVE GLA MUTATIONS.ESTUDIO DOBLE CIEGO, ALEATORIZADO Y CONTROLADO CON PLACEBO PARA EVALUAR LA EFICACIA, LA SEGURIDAD Y LA FARMACODINAMIA DE AT1001 EN PACIENTES CON ENFERMEDAD DE FABRY Y MUTACIONES EN GLA SENSIBLES A AT1001.A DOUBLE-BLIND, RANDOMIZED, PLACEBO-CONTROLLED STUDY TO EVALUATE THE EFFICACY, SAFETY AND PHARMACODYNAMICS OF AT1001 IN PATIENTS WITH FABRY DISEASE AND AT1001-RESPONSIVE GLA MUTATIONS. Enfermedad de Fabry.Fabry Disease.
MedDRA version: 12.0;Level: LLT;Classification code 10016016;Term: Fabry's disease
Product Name: migalastat hydrochloride
Product Code: AT1001
INN or Proposed INN: migalastat hydrochloride
Other descriptive name: 1-deoxygalactonojirimycin hydrochloride
Amicus Therapeutics, Inc.NULLNot RecruitingFemale: yes
Male: yes
60Phase 3France;Belgium;Spain;Denmark;Netherlands;Germany;Italy;United Kingdom
649EUCTR2009-015984-15-GB
(EUCTR)
25/03/201017/03/2010A Phase I/II Safety, Tolerability, Ascending Dose and Dose Frequency Study of Recombinant Human Heparan-N-sulfatase (rhHNS) Intrathecal Administration via an Intrathecal Drug Delivery Device in Patients With Sanfilippo Syndrome Type A (MPS IIIA)A Phase I/II Safety, Tolerability, Ascending Dose and Dose Frequency Study of Recombinant Human Heparan-N-sulfatase (rhHNS) Intrathecal Administration via an Intrathecal Drug Delivery Device in Patients With Sanfilippo Syndrome Type A (MPS IIIA) Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 14.0;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 14.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Recombinant human heparan N-sulfatase (rhHNS)
Product Code: HGT-1410
Other descriptive name: Recombinant human heparan N-sulfatase (rhHNS)
Shire Human Genetic Therapies, Inc. (Shire HGT)NULLNot Recruiting Female: yes
Male: yes
15 Human pharmacology (Phase 1): yes Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noUnited Kingdom
650JPRN-jRCTs061180090
16/03/201022/03/2019Chaperone therapy of Neuronopathic Gaucher Disease with AmbroxolAn Open-Label, Dose Escalation, Proof-of-Concept Clinical Trial of Chaperone therapy of Neuronopathic Gaucher Disease with Ambroxol - Chaperone therapy of Neuronopathic Gaucher Disease with Ambroxol Neuronopathic Gaucher disease
Gaucher disease, Pharmacological chaperone therapy, ambroxol;D005776
Ambroxol at a dose level of 25 mg/kg/day (upper limit: 1300mg/day) will be given by mouth for 6 months.Maegaki YoshihiroNULLCompleteNot applicableNot applicableBoth25Phase 2Japan
651EUCTR2009-017349-77-IT
(EUCTR)
15/03/201026/04/2010A Phase I/II clinical trial of hematopoietic stem cell gene therapy for the treatment of Metachromatic Leukodystrophy - TIGET-MLDA Phase I/II clinical trial of hematopoietic stem cell gene therapy for the treatment of Metachromatic Leukodystrophy - TIGET-MLD metachromatic leukodystrophy
MedDRA version: 9.1;Level: PT;Classification code 10024381
Product Name: autologous CD34+ cells transduced with a lentiviral vector encoding the ARSA cDNA
Trade Name: BUSILVEX
INN or Proposed INN: Busulfan
FONDAZIONE CENTRO S. RAFFAELE DEL MONTE TABORNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
Phase 1/2Italy
652EUCTR2009-013459-31-DK
(EUCTR)
11/03/201027/01/2010A CLINICAL STUDY THAT WILL MEASURE THE EFFECTIVENESS AND SAFETY OF A NEW INVESTIGATIONAL MEDICATION FOR THE TREATMENT OF PATIENTS WITH FABRY DISEASEA DOUBLE-BLIND, RANDOMIZED, PLACEBO-CONTROLLED STUDY TO EVALUATE THE EFFICACY, SAFETY AND PHARMACODYNAMICS OF AT1001 IN PATIENTS WITH FABRY DISEASE AND AT1001-RESPONSIVE GLA MUTATIONS - Study of the Effects of Oral AT1001 (Migalastat Hydrochloride) in Patients With Fabry Disease Fabry Disease
MedDRA version: 15.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: migalastat hydrochloride
Product Code: AT1001
INN or Proposed INN: migalastat hydrochloride
Other descriptive name: 1-deoxygalactonojirimycin hydrochloride
Product Name: Inactive Reminder Product
INN or Proposed INN: Not applicable
Amicus Therapeutics, Inc.NULLNot RecruitingFemale: yes
Male: yes
60United States;Spain;Turkey;Italy;United Kingdom;Egypt;France;Canada;Argentina;Belgium;Brazil;Denmark;Australia;South Africa;Germany;Netherlands
653EUCTR2009-013459-31-BE
(EUCTR)
08/03/201016/12/2009A DOUBLE-BLIND, RANDOMIZED, PLACEBO-CONTROLLED STUDY TO EVALUATE THE EFFICACY, SAFETY AND PHARMACODYNAMICS OF AT1001 IN PATIENTS WITH FABRY DISEASE AND AT1001-RESPONSIVE GLA MUTATIONS - Study of the Effects of Oral AT1001 in Patients with Fabry DiseaseA DOUBLE-BLIND, RANDOMIZED, PLACEBO-CONTROLLED STUDY TO EVALUATE THE EFFICACY, SAFETY AND PHARMACODYNAMICS OF AT1001 IN PATIENTS WITH FABRY DISEASE AND AT1001-RESPONSIVE GLA MUTATIONS - Study of the Effects of Oral AT1001 in Patients with Fabry Disease Fabry Disease
MedDRA version: 12.0;Level: LLT;Classification code 10016016;Term: Fabry's disease
Product Name: migalastat hydrochloride
Product Code: AT1001
INN or Proposed INN: migalastat hydrochloride
Other descriptive name: 1-deoxygalactonojirimycin hydrochloride
Product Name: Reminder Product
INN or Proposed INN: Not applicable
Amicus Therapeutics, Inc.NULLNot RecruitingFemale: yes
Male: yes
60Phase 3France;Spain;Belgium;Denmark;Netherlands;Germany;Italy;United Kingdom
654EUCTR2009-015985-75-CZ
(EUCTR)
08/03/201024/02/2010Follow on study in adult Fabry Disease patientsAn Open-label Extension of Study TKT028 Evaluating Safety and Clinical Outcomes of Replagal Enzyme Replacement Therapy Administered to Adult Patients with Fabry Disease Fabry disease
MedDRA version: 16.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Trade Name: Replagal
Product Name: Replagal
INN or Proposed INN: AGALSIDASE ALFA
Shire Human Genetic Therapies (HGT), Inc.NULLNot RecruitingFemale: yes
Male: yes
43United States;Czech Republic;Slovenia;Paraguay;Finland;Poland;Australia;United Kingdom
655EUCTR2008-000084-41-BE
(EUCTR)
03/03/201015/12/2009A multi-center open label extension study of HGT-1111 (Recombinant Human Arylsulfatase A or rhASA) treatment in patients with Late Infantile Metachromatic Leukodystrophy (MLD)A multi-center open label extension study of HGT-1111 (Recombinant Human Arylsulfatase A or rhASA) treatment in patients with Late Infantile Metachromatic Leukodystrophy (MLD) Metachromatic Leukodystrophy (MLD) in late infantile patients
MedDRA version: 9.1;Level: LLT;Classification code 10024381;Term: Leukodystrophy
Product Name: HGT-1111
Product Code: rhASA
Other descriptive name: recombinant human arylsulfatase A
Shire Human Genetic Therapies IncNULLNot RecruitingFemale: yes
Male: yes
18Phase 2France;Belgium;Denmark;Italy
656EUCTR2008-005223-28-ES
(EUCTR)
03/03/201017/08/2009A Phase 3, Randomized, Multi-Center, Multi-National, Open-Label, Active Comparator Study to Evaluate the Efficacy and Safety of Genz-112638 in Patients with Gaucher Disease Type 1 who have been Stabilized with CerezymeEstudio en fase 3, aleatorizado, multicéntrico, multinacional, abierto y con comparador activo para evaluar la eficacia y seguridad de Genz 112638 en pacientes con enfermedad de Gaucher de tipo 1 que se han estabilizado con Cerezyme - ENCOREA Phase 3, Randomized, Multi-Center, Multi-National, Open-Label, Active Comparator Study to Evaluate the Efficacy and Safety of Genz-112638 in Patients with Gaucher Disease Type 1 who have been Stabilized with CerezymeEstudio en fase 3, aleatorizado, multicéntrico, multinacional, abierto y con comparador activo para evaluar la eficacia y seguridad de Genz 112638 en pacientes con enfermedad de Gaucher de tipo 1 que se han estabilizado con Cerezyme - ENCORE Enfermedad de Gaucher tipo IGaucher Disease type I
MedDRA version: 9.1;Level: PT;Classification code 10018048;Term: Gaucher's disease
Product Name: Genz-112638
Product Code: Genz-112638
INN or Proposed INN: INN Not available
Other descriptive name: N/A
Genzyme Europe B.V.NULLNot RecruitingFemale: yes
Male: yes
96Phase 3France;Czech Republic;Spain;Germany;Netherlands;Italy;United Kingdom
657EUCTR2009-013459-31-NL
(EUCTR)
03/03/201020/11/2009A DOUBLE-BLIND, RANDOMIZED, PLACEBO-CONTROLLED STUDY TO EVALUATE THE EFFICACY, SAFETY AND PHARMACODYNAMICS OF AT1001 IN PATIENTS WITH FABRY DISEASE AND AT1001-RESPONSIVE GLA MUTATIONS - Study of the Effects of Oral AT1001 in Patients with Fabry DiseaseA DOUBLE-BLIND, RANDOMIZED, PLACEBO-CONTROLLED STUDY TO EVALUATE THE EFFICACY, SAFETY AND PHARMACODYNAMICS OF AT1001 IN PATIENTS WITH FABRY DISEASE AND AT1001-RESPONSIVE GLA MUTATIONS - Study of the Effects of Oral AT1001 in Patients with Fabry Disease Fabry Disease
MedDRA version: 12.0;Level: LLT;Classification code 10016016;Term: Fabry's disease
Product Name: migalastat hydrochloride
Product Code: AT1001
INN or Proposed INN: migalastat hydrochloride
Other descriptive name: 1-deoxygalactonojirimycin hydrochloride
Product Name: Reminder Product
INN or Proposed INN: Not applicable
Amicus Therapeutics, Inc.NULLNot RecruitingFemale: yes
Male: yes
60Phase 3France;Spain;Belgium;Denmark;Germany;Netherlands;Italy;United Kingdom
658EUCTR2006-001910-33-AT
(EUCTR)
02/03/201003/02/2010A Multicenter, Multinational Study of the Effects of Fabrazyme® (agalsidase beta) Treatment on Lactation and Infants - Effects of Fabrazyme Treatment on Lactation and InfantsA Multicenter, Multinational Study of the Effects of Fabrazyme® (agalsidase beta) Treatment on Lactation and Infants - Effects of Fabrazyme Treatment on Lactation and Infants Fabry disease
MedDRA version: 12.1;Level: PT;Classification code 10016016;Term: Fabry's disease
Trade Name: Fabrazyme
Product Name: Fabrazyme
Product Code: Agalsidase beta
INN or Proposed INN: agalsidase beta
Other descriptive name: agalsidase beta
Genzyme Europe BVNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: no
10United Kingdom;Austria
659NCT01031173
(ClinicalTrials.gov)
February 17, 20108/12/2009Treatment Protocol of Replagal for Patients With Fabry DiseaseAn Open-label Treatment Protocol to Evaluate the Safety of Replagal Treatment in Patients With Fabry Disease.Fabry DiseaseBiological: agalsidase alfaShireNULLNo longer availableN/AN/AAllUnited States
660EUCTR2008-005222-37-BG
(EUCTR)
10/02/201011/11/2009A study with Eliglustat Tartrate (Genz-112638) in Patients With GaucherDiseaseA Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study Confirming the Efficacy and Safety of Genz-112638 in Patients with Gaucher Disease Type 1 - ENGAGE Gaucher Disease type I
MedDRA version: 16.1;Level: PT;Classification code 10018048;Term: Gaucher's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Genz-112638
Product Code: Genz-112638
INN or Proposed INN: Eliglustat
Other descriptive name: not available
Genzyme Europe B.V.NULLNot RecruitingFemale: yes
Male: yes
36Phase 3United States;Serbia;Saudi Arabia;Lebanon;Israel;Russian Federation;Colombia;United Kingdom;India;Mexico;Canada;Jordan;Bulgaria;Netherlands;Tunisia
661EUCTR2009-015985-75-PL
(EUCTR)
03/02/201030/11/2009Follow on study in adault Fabry Disease patientsAn Open-label Extension of Study TKT028 Evaluating Safety and Clinical Outcomes of Replagal Enzyme Replacement Therapy Administered to Adult Patients with Fabry Disease Fabry disease
MedDRA version: 14.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Trade Name: Replagal
Product Name: Replagal
INN or Proposed INN: AGALSIDASE ALFA
Shire Human Genetic Therapies (HGT), Inc.NULLNot RecruitingFemale: yes
Male: yes
43United States;Czech Republic;Slovenia;Paraguay;Finland;Poland;Australia;United Kingdom
662EUCTR2009-013459-31-IT
(EUCTR)
02/02/201015/01/2010A DOUBLE-BLIND, RANDOMIZED, PLACEBO-CONTROLLED STUDY TO EVALUATE THE EFFICACY, SAFETY AND PHARMACODYNAMICS OF AT1001 IN PATIENTS WITH FABRY DISEASE AND AT1001-RESPONSIVE GLA MUTATIONS - NDA DOUBLE-BLIND, RANDOMIZED, PLACEBO-CONTROLLED STUDY TO EVALUATE THE EFFICACY, SAFETY AND PHARMACODYNAMICS OF AT1001 IN PATIENTS WITH FABRY DISEASE AND AT1001-RESPONSIVE GLA MUTATIONS - ND Fabry disease
MedDRA version: 9.1;Level: LLT;Classification code 10016016
INN or Proposed INN: migalastat hydrochlorideAMICUS THERAPEUTICS, INCNULLNot RecruitingFemale: yes
Male: yes
60France;Spain;Belgium;Denmark;Netherlands;Germany;United Kingdom;Italy
663EUCTR2008-005223-28-IT
(EUCTR)
29/01/201003/12/2009A Phase 3, Randomized, Multi-Center, Multi-National, Open-Label, Active Comparator Study to Evaluate the Efficacy and Safety of Genz-112638 in Patients with Gaucher Disease Type 1 who have been Stabilized with Cerezyme - ENCOREA Phase 3, Randomized, Multi-Center, Multi-National, Open-Label, Active Comparator Study to Evaluate the Efficacy and Safety of Genz-112638 in Patients with Gaucher Disease Type 1 who have been Stabilized with Cerezyme - ENCORE Gaucher Disease Type 1
MedDRA version: 12.1;Level: LLT;Classification code 10018048;Term: Gaucher's disease
Product Name: Genz-112638
Product Code: Genz-112638
Trade Name: CEREZYME
INN or Proposed INN: Imiglucerase
Genzyme Europe BVNULLNot RecruitingFemale: yes
Male: yes
96Phase 3France;Czech Republic;Spain;Germany;Netherlands;United Kingdom;Italy
664EUCTR2008-005223-28-DE
(EUCTR)
21/01/201011/08/2009A Study of Eliglustat Tartrate (Genz-112638) in Patients with Gaucher Disease Who Have Reached Thereapeutic Goals with Enzyme Replacement TherapyA Phase 3, Randomized, Multi-Center, Multi-National, Open-Label, Active Comparator Study to Evaluate the Efficacy and Safety of Genz-112638 in Patients with Gaucher Disease Type 1 who have reached therapeutic goals with enzyme replacement therapy - ENCORE Gaucher Disease type I
MedDRA version: 18.0;Level: PT;Classification code 10018048;Term: Gaucher's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Genz-112638
Product Code: Genz-112638
INN or Proposed INN: Eliglustat
Other descriptive name: not available
Product Name: Genz-112638
Product Code: Genz-112638
INN or Proposed INN: Eliglustat
Other descriptive name: not available
Trade Name: Cerezyme
Product Name: Cerezyme
Product Code: imiglucerase
INN or Proposed INN: IMIGLUCERASE
Other descriptive name: Recombinant human derived macrophage-targeted ß-Glucocerebrosidase
Product Name: Genz-112638
Product Code: Genz-112638
INN or Proposed INN: Eliglustat
Other descriptive name: not available
Genzyme Europe B.V.NULLNot RecruitingFemale: yes
Male: yes
150Phase 3United States;Spain;Turkey;Russian Federation;United Kingdom;Italy;Egypt;France;Czech Republic;Canada;Argentina;Brazil;Australia;Netherlands;Germany
665NCT02650219
(ClinicalTrials.gov)
January 20105/1/2016Auto-antibodies Prevalence and CD1 Role in Gaucher DiseasePrevalence of Autoantibodies in the Gaucher Disease and the Role of CD1 Molecules in Immune Manifestations of This DiseaseGaucher DiseaseGenetic: genetic analysesHospital St. Joseph, Marseille, FranceNULLCompleted18 YearsN/AAll60N/AFrance
666EUCTR2008-005825-12-GB
(EUCTR)
17/12/200928/04/2009A Phase 3 Multicenter, Open-label, Switchover Trial to Assess the Safety and Efficacy of Plant Cell Expressed Recombinant Human Glucocerebrosidase (prGCD) in Patients with Gaucher Disease Treated with Imiglucerase (Cerezyme®) Enzyme Replacement Therapy - NAA Phase 3 Multicenter, Open-label, Switchover Trial to Assess the Safety and Efficacy of Plant Cell Expressed Recombinant Human Glucocerebrosidase (prGCD) in Patients with Gaucher Disease Treated with Imiglucerase (Cerezyme®) Enzyme Replacement Therapy - NA Gaucher Disease
MedDRA version: 9.1;Level: PT;Classification code 10018048;Term: Gaucher's disease
Product Name: UPLYSO
Product Code: Taliglucerase alfa
Other descriptive name: recombinant human glucocerebrosidase (prGCD)
Protalix BiotherapeuticsNULLNot Recruiting Female: yes
Male: yes
30 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): noSpain;Germany;Italy;United Kingdom
667EUCTR2008-005825-12-DE
(EUCTR)
10/12/200916/09/2009A Phase 3 Multicenter, Open-label, Switchover Trial to Assess the Safety and Efficacy of Plant Cell Expressed Recombinant Human Glucocerebrosidase (prGCD) in Patients with Gaucher Disease Treated with Imiglucerase (Cerezyme®) Enzyme Replacement Therapy - NAA Phase 3 Multicenter, Open-label, Switchover Trial to Assess the Safety and Efficacy of Plant Cell Expressed Recombinant Human Glucocerebrosidase (prGCD) in Patients with Gaucher Disease Treated with Imiglucerase (Cerezyme®) Enzyme Replacement Therapy - NA Gaucher Disease
MedDRA version: 9.1;Level: PT;Classification code 10018048;Term: Gaucher's disease
Product Name: UPLYSO
Product Code: Taliglucerase alfa
INN or Proposed INN: Taliglucerase alfa
Other descriptive name: Recombinant Human Glucocerebrosidase (prGCD)
Protalix BiotherapeuticsNULLNot RecruitingFemale: yes
Male: yes
30Phase 3Spain;Germany;Italy;United Kingdom
668EUCTR2009-013459-31-GB
(EUCTR)
10/12/200911/09/2009A CLINICAL STUDY THAT WILL MEASURE THE EFFECTIVENESS AND SAFETY OF A NEW INVESTIGATIONAL MEDICATION FOR THE TREAMENT OF PATIENTS WITH FABRY DISEASEA DOUBLE-BLIND, RANDOMIZED, PLACEBO-CONTROLLED STUDY TO EVALUATE THE EFFICACY, SAFETY AND PHARMACODYNAMICS OF AT1001 IN PATIENTS WITH FABRY DISEASE AND AT1001-RESPONSIVE GLA MUTATIONS - Study of the Effects of Oral AT1001 (Migalastat Hydrochloride) in Patients With Fabry Disease Fabry Disease
MedDRA version: 14.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: migalastat hydrochloride
Product Code: AT1001
INN or Proposed INN: migalastat hydrochloride
Other descriptive name: 1-deoxygalactonojirimycin hydrochloride
Product Name: Inactive Reminder Product
Product Code: Inactive Reminder Product
INN or Proposed INN: Not applicable
Amicus Therapeutics, Inc.NULLNot Recruiting Female: yes
Male: yes
60 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): noUnited States;Spain;Turkey;Italy;United Kingdom;Egypt;France;Canada;Argentina;Brazil;Belgium;Denmark;Australia;South Africa;Germany;Netherlands
669EUCTR2008-000084-41-FR
(EUCTR)
01/12/200905/08/2009A multi-center open label extension study of HGT-1111 (Recombinant Human Arylsulfatase A or rhASA) treatment in patients with Late Infantile Metachromatic Leukodystrophy (MLD)A multi-center open label extension study of HGT-1111 (Recombinant Human Arylsulfatase A or rhASA) treatment in patients with Late Infantile Metachromatic Leukodystrophy (MLD) Metachromatic Leukodystrophy (MLD) in late infantile patients
MedDRA version: 9.1;Level: LLT;Classification code 10024381;Term: Leukodystrophy
Product Name: HGT-1111
Product Code: rhASA
Other descriptive name: recombinant human arylsulfatase A
Shire Human Genetic Therapies IncNULLNot RecruitingFemale: yes
Male: yes
18Phase 2France;Belgium;Denmark;Italy
670NCT01043640
(ClinicalTrials.gov)
December 20095/1/2010Allogeneic Bone Marrow Transplant for Inherited Metabolic DisordersAllogeneic Hematopoietic Stem Cell Transplantation for Standard Risk Inherited Metabolic DisordersMucopolysaccharidosis;Hurler Syndrome;Hunter Syndrome;Maroteaux-Lamy Syndrome;Sly Syndrome;Alpha Mannosidosis;Fucosidosis;Aspartylglucosaminuria;Adrenoleukodystrophy (ALD);Krabbe Disease;Metachromatic Leukodystrophy (MLD);Sphingolipidoses;Peroxisomal DisordersDrug: Campath-1H;Drug: Cyclophosphamide;Drug: Busulfan;Procedure: Allogeneic stem cell transplantation;Drug: Cyclosporine A;Drug: Mycophenolate MofetilMasonic Cancer Center, University of MinnesotaNULLCompletedN/A21 YearsAll46Phase 2United States
671NCT00920647
(ClinicalTrials.gov)
November 18, 200912/6/2009A Safety and Dose Ranging Study of Idursulfase (Intrathecal) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Hunter Syndrome Who Have Central Nervous System Involvement and Are Receiving Treatment With Elaprase®A Phase I/II, Randomized, Safety and Ascending Dose Ranging Study of Intrathecal Idursulfase-IT Administered in Conjunction With Intravenous Elaprase in Pediatric Patients With Hunter Syndrome and Cognitive ImpairmentHunter SyndromeOther: Control;Drug: Idursulfase IT (1 mg);Drug: Idursulfase IT (10 mg);Drug: Idursulfase IT (30 mg)ShireNULLCompleted3 Years18 YearsMale16Phase 1/Phase 2United States;United Kingdom
672EUCTR2008-005223-28-GB
(EUCTR)
16/11/200906/07/2009A Study of Eliglustat Tartrate (Genz-112638) in Patients with Gaucher Disease Who Have Reached Thereapeutic Goals with Enzyme Replacement TherapyA Phase 3, Randomized, Multi-Center, Multi-National, Open-Label, Active Comparator Study to Evaluate the Efficacy and Safety of Genz-112638 in Patients with Gaucher Disease Type 1 who have Reached Therapeutic Goals with Enzyme Replacement Therapy - ENCORE Gaucher Disease type I
MedDRA version: 14.1;Level: PT;Classification code 10018048;Term: Gaucher's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Genz-112638
Product Code: Genz-112638
INN or Proposed INN: Eliglustat
Other descriptive name: not available
Trade Name: Cerezyme
Product Name: Cerezyme
Product Code: imiglucerase
INN or Proposed INN: IMIGLUCERASE
Other descriptive name: Recombinant human derived macrophage-targeted ß-Glucocerebrosidase
Genzyme Europe B.V.NULLNot Recruiting Female: yes
Male: yes
150 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): noUnited States;Spain;Turkey;Russian Federation;Italy;United Kingdom;Egypt;France;Czech Republic;Canada;Argentina;Brazil;Australia;Netherlands;Germany
673EUCTR2009-013459-31-FR
(EUCTR)
13/11/200901/10/2009A DOUBLE-BLIND, RANDOMIZED, PLACEBO-CONTROLLED STUDY TO EVALUATE THE EFFICACY, SAFETY AND PHARMACODYNAMICS OF AT1001 IN PATIENTS WITH FABRY DISEASE AND AT1001-RESPONSIVE GLA MUTATIONS - Study of the Effects of Oral AT1001 in Patients with Fabry DiseaseA DOUBLE-BLIND, RANDOMIZED, PLACEBO-CONTROLLED STUDY TO EVALUATE THE EFFICACY, SAFETY AND PHARMACODYNAMICS OF AT1001 IN PATIENTS WITH FABRY DISEASE AND AT1001-RESPONSIVE GLA MUTATIONS - Study of the Effects of Oral AT1001 in Patients with Fabry Disease Fabry Disease
MedDRA version: 12.0;Level: LLT;Classification code 10016016;Term: Fabry's disease
Product Name: migalastat hydrochloride
Product Code: AT1001
INN or Proposed INN: migalastat hydrochloride
Other descriptive name: 1-deoxygalactonojirimycin hydrochloride
Amicus Therapeutics, Inc.NULLNot RecruitingFemale: yes
Male: yes
60Phase 3France;Spain;Belgium;Denmark;Netherlands;Germany;Italy;United Kingdom
674EUCTR2007-007482-21-GB
(EUCTR)
09/11/200917/08/2009Multi-center, Open-label Study of the Safety and Efficacy of Control of Proteinuria with ACE Inhibitors and ARBS in Patients with Fabry Diseaswe Who Are receiving Farazyme : Tha Farazyme + Arbs + ACE inhibitors Treatments (FAACET) Study: The FAACET Study - The FAACET StudyMulti-center, Open-label Study of the Safety and Efficacy of Control of Proteinuria with ACE Inhibitors and ARBS in Patients with Fabry Diseaswe Who Are receiving Farazyme : Tha Farazyme + Arbs + ACE inhibitors Treatments (FAACET) Study: The FAACET Study - The FAACET Study Fabry disease with proteinuria.
MedDRA version: 9.1;Level: LLT;Classification code 10018058;Term: Gene genetic abnormality
MedDRA version: 9.1;Classification code 10037032;Term: Proteinuria
Trade Name: perdix
Product Name: perdix
Trade Name: Zestoretic 10,20
Product Name: ZESTORIC
Trade Name: INNOZIDE
Product Name: innozide
Trade Name: lisinopril
Product Name: lisinopril
Trade Name: zestril
Product Name: zestril
Trade Name: coversyl
Product Name: coversyl
Trade Name: coversyl PLUS
Product Name: coversyl PLUS
Trade Name: Accupro
Product Name: Accupro
Trade Name: Accuretic
Product Name: Accuretic
Trade Name: lopace
Product Name: lopace
Trade Name: lopace
Product Name: lopace
Trade Name: triapin
Product Name: triapin& triapin Mite
Salford Royal NHS Foundation TrustNULLNot Recruiting Female: yes
Male: yes
Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): yesUnited Kingdom
675EUCTR2008-005222-37-GB
(EUCTR)
06/11/200918/06/2009A study with Eliglustat Tartrate (Genz-112638) in Patients With Gaucher DiseaseA Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study Confirming the Efficacy and Safety of Genz-112638 in Patients with Gaucher Disease Type 1 - ENGAGE Gaucher Disease type I
MedDRA version: 14.1;Level: PT;Classification code 10018048;Term: Gaucher's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Genz-112638
Product Code: Genz-112638
INN or Proposed INN: eliglustat
Other descriptive name: not applicable
Product Name: Genz-112638
Product Code: Genz-112638
INN or Proposed INN: eliglustat
Other descriptive name: not applicable
Product Name: Genz-112638
Product Code: Genz-112638
INN or Proposed INN: eliglustat
Other descriptive name: not applicable
Genzyme Europe B.V.NULLNot Recruiting Female: yes
Male: yes
36 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): noSerbia;United States;Saudi Arabia;Lebanon;Russian Federation;Israel;Colombia;United Kingdom;India;Mexico;Canada;Jordan;Bulgaria;Netherlands;Tunisia
676EUCTR2008-005222-37-NL
(EUCTR)
04/11/200910/06/2009A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study Confirming the Efficacy and Safety of Genz-112638 in Patients with Gaucher Disease Type 1 - ENGAGEA Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study Confirming the Efficacy and Safety of Genz-112638 in Patients with Gaucher Disease Type 1 - ENGAGE Gaucher Disease type I
MedDRA version: 13.1;Level: PT;Classification code 10018048;Term: Gaucher's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders
Product Name: Genz-112638
Product Code: Genz-112638
INN or Proposed INN: Eliglustat
Other descriptive name: not available
Product Name: Genz-112638
Product Code: Genz-112638
INN or Proposed INN: Eliglustat
Other descriptive name: not available
Product Name: Genz-112638
Product Code: Genz-112638
INN or Proposed INN: Eliglustat
Other descriptive name: not available
Genzyme Europe B.V.NULLNot RecruitingFemale: yes
Male: yes
28Phase 3Bulgaria;Netherlands;United Kingdom
677EUCTR2008-005223-28-NL
(EUCTR)
04/11/200901/07/2009A Phase 3, Randomized, Multi-Center, Multi-National, Open-Label, Active Comparator Study to Evaluate the Efficacy and Safety of Genz-112638 in Patients with Gaucher Disease Type 1 who have Reached Therapeutic Goals with Enzyme Replacement Therapy - ENCOREA Phase 3, Randomized, Multi-Center, Multi-National, Open-Label, Active Comparator Study to Evaluate the Efficacy and Safety of Genz-112638 in Patients with Gaucher Disease Type 1 who have Reached Therapeutic Goals with Enzyme Replacement Therapy - ENCORE Gaucher Disease type I
MedDRA version: 9.1;Level: PT;Classification code 10018048;Term: Gaucher's disease
Product Name: Genz-112638
Product Code: Genz-112638
INN or Proposed INN: Eliglustat
Other descriptive name: not available
Trade Name: Cerezyme
Product Name: Cerezyme
Product Code: Imiglucerase
INN or Proposed INN: IMIGLUCERASE
Other descriptive name: Recombinant human derived macrophage-targeted ß-Glucocerebrosidase
Genzyme Europe B.V.NULLNot RecruitingFemale: yes
Male: yes
186Phase 3France;Czech Republic;Spain;Germany;Netherlands;Italy;United Kingdom
678NCT00891202
(ClinicalTrials.gov)
November 200930/4/2009A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease (ENGAGE)A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study Confirming the Efficacy and Safety of Genz-112638 in Patients With Gaucher Disease Type 1 (ENGAGE)Gaucher Disease, Type 1Drug: Eliglustat tartrate;Drug: PlaceboGenzyme, a Sanofi CompanyNULLCompleted16 YearsN/AAll40Phase 3United States;Bulgaria;Canada;Colombia;India;Israel;Lebanon;Mexico;Russian Federation;Serbia;Tunisia;United Kingdom;Chile;Georgia;Jordan;Netherlands;Saudi Arabia
679NCT00925301
(ClinicalTrials.gov)
October 23, 200919/6/2009Study of the Effects of Oral AT1001 (Migalastat Hydrochloride) in Patients With Fabry DiseaseA Double-Blind, Randomized, Placebo-Controlled Study to Evaluate the Efficacy, Safety and Pharmacodynamics of AT1001 in Patients With Fabry Disease and AT1001-Responsive GLA MutationsFabry DiseaseDrug: migalastat hydrochloride;Drug: PlaceboAmicus TherapeuticsNULLCompleted16 Years74 YearsAll67Phase 3United States;Argentina;Australia;Brazil;Canada;Denmark;Egypt;France;Italy;Poland;Spain;Turkey;United Kingdom;Belgium;Chile;Germany;Israel;Netherlands;South Africa
680EUCTR2008-005223-28-FR
(EUCTR)
22/10/200905/08/2009A Phase 3, Randomized, Multi-Center, Multi-National, Open-Label, Active Comparator Study to Evaluate the Efficacy and Safety of Genz-112638 in Patients with Gaucher Disease Type 1 who have been Stabilized with Cerezyme - ENCOREA Phase 3, Randomized, Multi-Center, Multi-National, Open-Label, Active Comparator Study to Evaluate the Efficacy and Safety of Genz-112638 in Patients with Gaucher Disease Type 1 who have been Stabilized with Cerezyme - ENCORE Gaucher Disease type I
MedDRA version: 9.1;Level: PT;Classification code 10018048;Term: Gaucher's disease
Product Name: Genz-112638
Product Code: Genz-112638
Trade Name: Cerezyme
Product Name: Cerezyme
Product Code: imiglucerase
INN or Proposed INN: IMIGLUCERASE
Other descriptive name: Recombinant human derived macrophage-targeted ß-Glucocerebrosidase
Genzyme Europe B.V.NULLNot RecruitingFemale: yes
Male: yes
96Phase 3France;Czech Republic;Spain;Germany;Netherlands;Italy;United Kingdom
681EUCTR2007-005668-28-FR
(EUCTR)
12/10/200916/03/2009A Randomized, Multicenter, Multinational, Phase 3B, Open-Label, Parallel-Group Study of Fabrazyme (agalsidase beta) in Treatment-Naive Male Pediatric Patients with Fabry Disease Without Severe Symptoms - FIELD (Fabrazyme: Intervening Early at a Lower Dose)A Randomized, Multicenter, Multinational, Phase 3B, Open-Label, Parallel-Group Study of Fabrazyme (agalsidase beta) in Treatment-Naive Male Pediatric Patients with Fabry Disease Without Severe Symptoms - FIELD (Fabrazyme: Intervening Early at a Lower Dose) Fabry disease
MedDRA version: 9.1;Level: LLT;Classification code 10016016;Term: Fabry's disease
Trade Name: Fabrazyme
Product Name: Fabrazyme
Product Code: Agalsidase beta
INN or Proposed INN: agalsidase beta
Other descriptive name: recombinant human alpha-galactosidase abbreviated as r-h-alpha-GAL
Genzyme Europe BVNULLNot RecruitingFemale: no
Male: yes
45Phase 3Portugal;France;Czech Republic;Germany;Netherlands;United Kingdom
682NCT00954460
(ClinicalTrials.gov)
October 20095/8/2009Treatment Protocol of Velaglucerase Alfa for Patients With Type 1 Gaucher DiseaseMulticenter Open-Label Treatment Protocol to Observe the Safety of Gene-Activated™ Human Glucocerebrosidase (GA-GCB, Velaglucerase Alfa) ERT in Newly Diagnosed or Previously Treated (With Imiglucerase) Patients With Type 1 Gaucher DiseaseGaucher Disease, Type 1Drug: velaglucerase alfaShireNULLApproved for marketing3 YearsN/AAllUnited States
683EUCTR2008-005223-28-CZ
(EUCTR)
23/09/200921/08/2009A Phase 3, Randomized, Multi-Center, Multi-National, Open-Label, Active Comparator Study to Evaluate the Efficacy and Safety of Genz-112638 in Patients with Gaucher Disease Type 1 who have Reached Therapeutic goals with Enzyme Replacement Therapy - ENCOREA Phase 3, Randomized, Multi-Center, Multi-National, Open-Label, Active Comparator Study to Evaluate the Efficacy and Safety of Genz-112638 in Patients with Gaucher Disease Type 1 who have Reached Therapeutic goals with Enzyme Replacement Therapy - ENCORE Gaucher Disease type I
MedDRA version: 9.1;Level: PT;Classification code 10018048;Term: Gaucher's disease
Product Name: Genz-112638
Product Code: Genz-112638
INN or Proposed INN: Eliglustat tartrate
Other descriptive name: not available
Trade Name: Cerezyme
Product Name: Cerezyme
Product Code: Imiglucerase
INN or Proposed INN: IMIGLUCERASE
Other descriptive name: recombinant human derived macrophage-targeted ß-glucocerebrosidase
Genzyme Europe B.V.NULLNot RecruitingFemale: yes
Male: yes
186Phase 3Germany;United Kingdom;Czech Republic;Netherlands;France;Spain;Italy
684NCT00943111
(ClinicalTrials.gov)
September 200920/7/2009A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ENCORE)A Phase 3, Randomized, Multi-Center, Multi-National, Open-Label, Active Comparator Study to Evaluate the Efficacy and Safety of Genz-112638 in Patients With Gaucher Disease Type 1 Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ENCORE)Gaucher Disease, Type 1Drug: Eliglustat tartrate;Drug: ImigluceraseGenzyme, a Sanofi CompanyNULLCompleted18 YearsN/AAll160Phase 3United States;Argentina;Australia;Brazil;Canada;Egypt;France;Germany;Italy;Russian Federation;Spain;United Kingdom;Czech Republic;Netherlands;Turkey
685EUCTR2008-000084-41-IT
(EUCTR)
25/08/200911/08/2009A Multi-center, Open-Label Extension Study of HGT-1111 (Recombinant Human Arylsulfatase A or rhASA) Treatment in Patients with Late Infantile Metachromatic Leukodystrophy (MLD) - NDA Multi-center, Open-Label Extension Study of HGT-1111 (Recombinant Human Arylsulfatase A or rhASA) Treatment in Patients with Late Infantile Metachromatic Leukodystrophy (MLD) - ND metachromatic leukodystrophy (MLD) in late infantile patients
MedDRA version: 9.1;Level: PT;Classification code 10024381
Product Name: HGT-1111Shire Human Genetic Therapies IncNULLNot RecruitingFemale: yes
Male: yes
18Phase 2France;Belgium;Denmark;Italy
686NCT01102686
(ClinicalTrials.gov)
August 200916/10/2009Pyrimethamine as a Treatment for Late-Onset GM2-gangliosidosis (Tay-Sachs and Sandhoff Disease)Proposed Investigator-Initiated Clinical Trial of Pyrimethamine as a Treatment for Late-Onset GM2-gangliosidosis (Tay-Sachs and Sandhoff Disease)Gangliosidoses, GM2;Sandhoff Disease;Tay-Sachs DiseaseDrug: Pyrimethamine;Drug: LeucovorinThe Hospital for Sick ChildrenNULLCompleted17 YearsN/ABoth20Phase 1/Phase 2Canada
687EUCTR2008-005825-12-IT
(EUCTR)
28/07/200916/09/2009: A Phase 3 Multicenter, Open-label, Switchover Trial to Assess the Safety and Efficacy of Plant Cell Expressed Recombinant Human Glucocerebrosidase (prGCD) in Patients with Gaucher Disease Treated with Imiglucerase (Cerezyme) Enzyme Replacement Therapy - PB-06-002: A Phase 3 Multicenter, Open-label, Switchover Trial to Assess the Safety and Efficacy of Plant Cell Expressed Recombinant Human Glucocerebrosidase (prGCD) in Patients with Gaucher Disease Treated with Imiglucerase (Cerezyme) Enzyme Replacement Therapy - PB-06-002 Gaucher disease
MedDRA version: 9.1;Level: SOC;Classification code 10029205
Product Name: Plant Cell Recombinant Glucocerebrosidase
Product Code: prGCD
PROTALIX BIOTHERAPEUTICSNULLNot RecruitingFemale: yes
Male: yes
15Phase 3Germany;United Kingdom;Spain;Italy
688EUCTR2008-005826-35-GB
(EUCTR)
24/06/200914/04/2009A Multicenter, Double-Blind, Extension Trial of Two Parallel Dose Groups of Plant Cell Expressed Recombinant Human Glucocerebrosidase (prGCD) in Patients with Gaucher DiseaseA Multicenter, Double-Blind, Extension Trial of Two Parallel Dose Groups of Plant Cell Expressed Recombinant Human Glucocerebrosidase (prGCD) in Patients with Gaucher Disease Gaucher Disease
MedDRA version: 9.1;Level: PT;Classification code 10018048;Term: Gaucher's disease
Product Name: UPLYSO
Product Code: Taliglucerase alfa
Other descriptive name: recombinant human glucocerebrosidase (prGCD)
Product Name: UPLYSO
Product Code: Taliglucerase alfa
Other descriptive name: recombinant human glucocerebrosidase (prGCD)
Protalix BiotherapeuticsNULLNot Recruiting Female: yes
Male: yes
30 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): noSpain;Italy;United Kingdom
689EUCTR2008-005826-35-IT
(EUCTR)
19/06/200930/06/2009A multicenter, double-blind, extension trial of two parallel dose groups of Plant cell expressed recombinant human glucocerebrosidase (prGCD) in patients with Gaucher disiease. - PB-06-003A multicenter, double-blind, extension trial of two parallel dose groups of Plant cell expressed recombinant human glucocerebrosidase (prGCD) in patients with Gaucher disiease. - PB-06-003 Gaucher DiseaseProduct Name: Plant Cell Recombinant Glucocerebrosidase
Product Code: prGCD
Product Name: Plant Cell Recombinant Glucocerebrosidase
Product Code: prGCD
PROTALIX BIOTHERAPEUTICSNULLNot RecruitingFemale: yes
Male: yes
30United Kingdom;Spain;Italy
690EUCTR2008-005826-35-ES
(EUCTR)
04/06/200907/04/2009Ensayo clínico de extensión, multicéntrico, doble ciego con dos grupos paralelos de dosis de glucocerebrosidasa humana recombinante expresada en células vegetales (prGCD) en pacientes con enfermedad de Gaucher A Multicenter, Double-Blind, Extension Trial of Two Parallel Dose Groups of Plant Cell Expressed Recombinant Human Glucocerebrosidase (prGCD) in Patients with Gaucher DiseaseEnsayo clínico de extensión, multicéntrico, doble ciego con dos grupos paralelos de dosis de glucocerebrosidasa humana recombinante expresada en células vegetales (prGCD) en pacientes con enfermedad de Gaucher A Multicenter, Double-Blind, Extension Trial of Two Parallel Dose Groups of Plant Cell Expressed Recombinant Human Glucocerebrosidase (prGCD) in Patients with Gaucher Disease Enfermedad de GaucherGaucher Disease
MedDRA version: 9.1;Level: PT;Classification code 10018048;Term: Gaucher's disease
Product Name: recombinant human glucocerebrosidase
Product Code: prGCD
Other descriptive name: recombinant human glucocerebrosidase
Product Name: recombinant human glucocerebrosidase
Product Code: prGCD
Other descriptive name: recombinant human glucocerebrosidase
Protalix BiotherapeuticsNULLNot RecruitingFemale: yes
Male: yes
30Phase 3Spain;Italy;United Kingdom
691EUCTR2008-005825-12-ES
(EUCTR)
04/06/200906/03/2009Ensayo clinico de fase 3, multicéntrico, en abierto y con cambio de tratamiento para evaluar la seguridad y eficacia de Glucocerebrosidasa Humana Recombinante expresada en células vegetales (prGCD) en pacientes con enfermedad de Gaucher tratados con Imiglucerasa (Cerezyme®) como terapia de reemplazo enzimatico. A Phase 3 Multicenter, Open-label, Switchover Trial to Assess the Safety and Efficacy of Plant Cell Expressed Recombinant Human Glucocerebrosidase (prGCD) in Patients with Gaucher Disease Treated with Imiglucerase (Cerezyme®) Enzyme Replacement Therapy - NAEnsayo clinico de fase 3, multicéntrico, en abierto y con cambio de tratamiento para evaluar la seguridad y eficacia de Glucocerebrosidasa Humana Recombinante expresada en células vegetales (prGCD) en pacientes con enfermedad de Gaucher tratados con Imiglucerasa (Cerezyme®) como terapia de reemplazo enzimatico. A Phase 3 Multicenter, Open-label, Switchover Trial to Assess the Safety and Efficacy of Plant Cell Expressed Recombinant Human Glucocerebrosidase (prGCD) in Patients with Gaucher Disease Treated with Imiglucerase (Cerezyme®) Enzyme Replacement Therapy - NA Enfermedad de GaucherGaucher Disease
MedDRA version: 9.1;Level: PT;Classification code 10018048;Term: Gaucher's disease
Product Name: recombinant human glucocerebrosidase
Product Code: prGCD
Other descriptive name: recombinant human glucocerebrosidase
Protalix BiotherapeuticsNULLNot RecruitingFemale: yes
Male: yes
15Phase 3Germany;United Kingdom;Spain;Italy
692NCT00852358
(ClinicalTrials.gov)
June 200925/2/2009A Study of Intrathecal Enzyme Therapy for Cognitive Decline in MPS IA Study of Intrathecal Enzyme Replacement for Cognitive Decline in Mucopolysaccharidosis ICognitive Decline;Mucopolysaccharidosis I;Hurler-Scheie Syndrome;Scheie Syndrome;Lysosomal Storage DiseaseDrug: laronidasePatricia I. Dickson, M.D.The Ryan Foundation;BioMarin Pharmaceutical;Rare Diseases Clinical Research Network;National Center for Advancing Translational Science (NCATS);National Institute of Neurological Disorders and Stroke (NINDS);National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK);University of Minnesota - Clinical and Translational Science Institute;University of California, Los AngelesCompleted6 YearsN/ABoth9N/AUnited States
693NCT00813865
(ClinicalTrials.gov)
May 11, 200922/12/2008A Long-Term Extension Study of AT2101 (Afegostat Tartrate) in Type 1 Gaucher PatientsAn Open-Label, Multicenter, Long-Term Extension Study To Assess The Safety, Efficacy, And Pharmacodynamics Of AT2101 In Adult Patients With Type 1 Gaucher DiseaseGaucher Disease;Type 1 Gaucher Disease;Gaucher Disease, Type 1Drug: afegostat tartrateAmicus TherapeuticsNULLCompleted18 YearsN/AAll8Phase 2United States;United Kingdom;Paraguay
694EUCTR2007-001838-13-GB
(EUCTR)
05/05/200916/05/2007Long-term safety study of AT1001 in people with Fabry diseaseOpen Label Extension Study to Evaluate the Long-term Safety Tolerability and Pharmacodynamics of AT1001 in Patients with Fabry Disease - Extension Study of AT1001 in Fabry Disease Fabry Disease
MedDRA version: 14.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: migalastat hydrochloride
Product Code: AT1001
INN or Proposed INN: migalastat hydrochloride
Other descriptive name: 1-deoxygalactonojirimycin hydrochloride
Product Name: Reminder capsules
INN or Proposed INN: Not applicable
Amicus Therapeutics, Inc.NULLNot Recruiting Female: yes
Male: yes
30 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): Therapeutic use (Phase 4):United States;Brazil;Australia;United Kingdom
695NCT00872729
(ClinicalTrials.gov)
May 200927/3/2009Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon® in Patients With CystinosisA Pilot Study to Assess the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Cysteamine Bitartrate Delayed-release Capsules (RP103), Compared to Cysteamine Bitartrate (Cystagon®) in Patients With Nephropathic CystinosisCystinosisDrug: Cystagon®;Drug: RP103Horizon Pharma USA, Inc.NULLCompletedN/AN/AAll9Phase 1/Phase 2United States
696NCT00875160
(ClinicalTrials.gov)
April 20092/4/2009A Study in Type 1 Gaucher Patients to Evaluate the Pharmacokinetics, Safety and Pharmacodynamics of AT2101An Open-Label Study to Assess the Pharmacokinetics, Safety, and Pharmacodynamics of Repeated Doses of Orally Administered AT2101 in Adult Patients With Type 1 Gaucher DiseaseType 1 Gaucher DiseaseDrug: AT2101Amicus TherapeuticsNULLTerminated18 Years65 YearsBoth1Phase 1United States;United Kingdom
697NCT00884949
(ClinicalTrials.gov)
April 200910/4/2009A Study to Evaluate the Safety, Tolerability and Efficacy of BMN 110 in Subjects With Mucopolysaccharidosis IVAA Phase 1/2, Multicenter, Open-label, Dose-Escalation Study to Evaluate the Safety, Tolerability, and Efficacy of BMN 110 in Subjects With Mucopolysaccharidosis IVA (Morquio Syndrome)MPS IV ADrug: BMN 110BioMarin PharmaceuticalNULLCompleted5 Years18 YearsAll20Phase 1/Phase 2United Kingdom
698EUCTR2008-007365-23-GB
(EUCTR)
12/03/200914/04/2009A Phase 1/2, Multicenter, Open-Label, Dose-Escalation Study to Evaluate the Safety, Tolerability, and Efficacy of BMN 110 in Subjects with Mucopolysaccharidosis IVA (Morquio Syndrome)A Phase 1/2, Multicenter, Open-Label, Dose-Escalation Study to Evaluate the Safety, Tolerability, and Efficacy of BMN 110 in Subjects with Mucopolysaccharidosis IVA (Morquio Syndrome) Mucopolysaccharidosis Type IV A
MedDRA version: 9.1;Level: LLT;Classification code 10028095;Term: Mucopolysaccharidosis IV
Product Name: BMN 110
INN or Proposed INN: N/A
Other descriptive name: recombinant human N-acetylgalactosamine 6-sulfatase, BMN 110 drug substance
BioMarin Pharmaceutical Inc.NULLNot RecruitingFemale: yes
Male: yes
Phase 1/2United Kingdom
699EUCTR2008-007158-36-GB
(EUCTR)
25/02/200929/04/2009An open-label, multicentre, long-term extension study to assess the safety, efficacy and pharmacodynamics of AT2101 in adult patients with Type I Gaucher disease.An open-label, multicentre, long-term extension study to assess the safety, efficacy and pharmacodynamics of AT2101 in adult patients with Type I Gaucher disease. Type I Gaucher Disease
MedDRA version: 9.1;Level: LLT;Classification code 10018048;Term: Gaucher's disease
Product Name: afegostat tartrate
Product Code: AT2101
INN or Proposed INN: afegostat tartrate
Amicus Therapeutics, Inc.NULLNot RecruitingFemale: yes
Male: yes
16United Kingdom
700EUCTR2007-005516-61-IT
(EUCTR)
06/02/200923/03/2009Multicenter randomized study to assess the efficacy and the safety of two therapeutic regimens(high dose of imiglucerase versus co-administration of imiglucerase and miglustat) in type I Gaucher disease patients who have not responded to previous treatment with low dose imiglucerase - NDMulticenter randomized study to assess the efficacy and the safety of two therapeutic regimens(high dose of imiglucerase versus co-administration of imiglucerase and miglustat) in type I Gaucher disease patients who have not responded to previous treatment with low dose imiglucerase - ND GAUCHER disease
MedDRA version: 9.1;Level: LLT;Classification code 10018048;Term: Gaucher's disease
Trade Name: CEREZYME
INN or Proposed INN: Imiglucerase
Trade Name: ZAVESCA
INN or Proposed INN: Miglustat
ISTITUTO GIANNINA GASLININULLNot RecruitingFemale: yes
Male: yes
Italy
701NCT01858103
(ClinicalTrials.gov)
January 200915/5/2013BMN 110 US Expanded Access ProgramA Multicenter, Open-label BMN 110 US Expanded Access Program (BMN 110 US EAP) to Provide BMN 110 to Patients Diagnosed With MPS IVAMucopolysaccharidosis IVA;Morquio A Syndrome;MPS IVADrug: BMN 110BioMarin PharmaceuticalNULLApproved for marketingN/AN/ABothN/AUnited States;Puerto Rico
702NCT00864851
(ClinicalTrials.gov)
December 29, 200818/3/2009Safety and Efficacy Study of Several Replagal Dosing Regimens on Cardiac Function in Adults With Fabry DiseaseA Multi-Center, Open-Label, Randomized Study Evaluating the Safety and Efficacy of Three Dosing Regimens of Replagal Enzyme Replacement Therapy in Adult Patients With Fabry DiseaseFabry DiseaseBiological: ReplagalShireNULLCompleted18 YearsN/AAll44Phase 3United States;Australia;Czechia;Finland;Paraguay;Poland;Slovenia;United Kingdom;Czech Republic
703EUCTR2008-001965-27-ES
(EUCTR)
23/12/200817/09/2008Estudio de extensión abierto de terapia de sustitución enzimática con glucocerebrosidasa humana activada genéticamente® (GA-GCB) en pacientes con enfermedad de Gaucher de tipo IAn Open-Label Extension Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Patients with Type 1 Gaucher DiseaseEstudio de extensión abierto de terapia de sustitución enzimática con glucocerebrosidasa humana activada genéticamente® (GA-GCB) en pacientes con enfermedad de Gaucher de tipo IAn Open-Label Extension Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Patients with Type 1 Gaucher Disease Enfermedad de Gaucher de tipo IType I Gaucher disease
MedDRA version: 9.1;Level: LLT;Classification code 10018048;Term: Gaucher's disease
Product Name: Gene-Activated Human Glucocerebrosidase
Product Code: GA-GCB
INN or Proposed INN: velaglucerase alfa
Other descriptive name: Gene activated human glucocerebrosidase
Shire Human Genetic Therapies, Inc.NULLNot RecruitingFemale: yes
Male: yes
102Spain;United Kingdom
704NCT00712348
(ClinicalTrials.gov)
December 20087/7/2008Switchover Trial From Imiglucerase to Plant Cell Expressed Recombinant Human GlucocerebrosidaseA Phase 3 Multicenter, Open-label, Switchover Trial to Assess the Safety and Efficacy of Plant Cell Expressed Recombinant Human Glucocerebrosidase in Patients With Gaucher Disease Treated With ImigluceraseGaucher DiseaseDrug: Taliglucerase alfaPfizerNULLCompleted2 YearsN/AAll31Phase 3United States;Australia;Canada;Israel;Spain;United Kingdom;Serbia
705EUCTR2007-005668-28-CZ
(EUCTR)
27/11/200810/12/2008A Randomized, Multicenter, Multinational, Phase 3B, Open-Label, Parallel-Group Study of Fabrazyme (agalsidase beta) in Treatment-Naive Male Pediatric Patients with Fabry Disease Without Severe Symptoms - FIELD (Fabrazyme: Intervening Early at a Lower Dose)A Randomized, Multicenter, Multinational, Phase 3B, Open-Label, Parallel-Group Study of Fabrazyme (agalsidase beta) in Treatment-Naive Male Pediatric Patients with Fabry Disease Without Severe Symptoms - FIELD (Fabrazyme: Intervening Early at a Lower Dose) Fabry disease
MedDRA version: 9.1;Level: LLT;Classification code 10016016;Term: Fabry's disease
Trade Name: Fabrazyme
Product Name: Fabrazyme
Product Code: Agalsidase beta
INN or Proposed INN: agalsidase beta
Other descriptive name: recombinant human alpha-galactosidase abbreviated as r-h-alpha-GAL
Genzyme Europe BVNULLNot RecruitingFemale: no
Male: yes
45Phase 3France;Portugal;Czech Republic;Germany;Netherlands;United Kingdom
706EUCTR2007-005668-28-DE
(EUCTR)
19/11/200804/08/2008A Randomized, Multicenter, Multinational, Phase 3B, Open-Label, Parallel-Group Study of Fabrazyme (agalsidase beta) in Treatment-Naive Male Pediatric Patients with Fabry Disease Without Severe Symptoms - FIELD (Fabrazyme: Intervening Early at a Lower Dose)A Randomized, Multicenter, Multinational, Phase 3B, Open-Label, Parallel-Group Study of Fabrazyme (agalsidase beta) in Treatment-Naive Male Pediatric Patients with Fabry Disease Without Severe Symptoms - FIELD (Fabrazyme: Intervening Early at a Lower Dose) Fabry disease
MedDRA version: 9.1;Level: LLT;Classification code 10016016;Term: Fabry's disease
Trade Name: Fabrazyme 35 mg
Product Name: Fabrazyme
Product Code: Agalsidase beta
INN or Proposed INN: agalsidase beta
Other descriptive name: recombinant human alpha-galactosidase abbreviated as r-h-alpha-GAL
Trade Name: Fabrazyme 5 mg
Product Name: Fabrazyme
Product Code: Agalsidase beta
INN or Proposed INN: agalsidase beta
Other descriptive name: recombinant human alpha-galactosidase abbreviated as r-h-alpha-GAL
Genzyme Europe BVNULLNot RecruitingFemale: no
Male: yes
45Phase 3Portugal;Czech Republic;United Kingdom;Germany;Netherlands;France
707EUCTR2007-000498-42-IT
(EUCTR)
13/11/200819/03/2009A phase III Multicenter, Randomized, Double-Blind Trial to Assess the Safety and Efficacy of Two parallel Dose Groups of Plant CElle Expressed Recombinant Human Glucocerebrosidase (prGCD) in Patients with Gaucher Disease - NDA phase III Multicenter, Randomized, Double-Blind Trial to Assess the Safety and Efficacy of Two parallel Dose Groups of Plant CElle Expressed Recombinant Human Glucocerebrosidase (prGCD) in Patients with Gaucher Disease - ND Gaucher Disease
MedDRA version: 9.1;Level: LLT;Classification code 10018048;Term: Gaucher's disease
Product Name: Plant Cell Recombinant Glucocerebrosidase
Product Code: prGCD
INN or Proposed INN: GLUCOCEREBROSIDASE
Product Name: Plant Cell Recombinant Glucocerebrosidase
Product Code: prGCD
INN or Proposed INN: GLUCOCEREBROSIDASE
PROTALIX BIOTHERAPEUTICSNULLNot RecruitingFemale: yes
Male: yes
30Phase 3United Kingdom;Spain;Italy
708NCT00748969
(ClinicalTrials.gov)
November 20088/9/2008Clinical Trial of Growth Hormone in MPS I, II, and VIPhase II/III, Randomized, Clinical Trial of the Effects of Nutropin AQ® on Growth and Bone Metabolism in Children With MPS I, II, and VI and Short StatureMucopolysaccharidosis I;Mucopolysaccharidosis II;Mucopolysaccharidosis VIDrug: Somatropin (DNA origin)Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical CenterNULLTerminated5 Years17 YearsAll2Phase 2/Phase 3United States
709EUCTR2008-001965-27-GB
(EUCTR)
29/10/200815/07/2008An Open-Label Extension Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Patients with Type 1 Gaucher DiseaseAn Open-Label Extension Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Patients with Type 1 Gaucher Disease Type I Gaucher disease
MedDRA version: 9.1;Level: LLT;Classification code 10018048;Term: Gaucher's disease
Product Name: Gene-Activated Human Glucocerebrosidase 400U/vial
Product Code: GA-GCB
INN or Proposed INN: velaglucerase alfa
Other descriptive name: Gene activated human glucocerebrosidase, velaglucerase alfa
Product Name: Gene-Activated Human Glucocerebrosidase 200U/vial
Product Code: GA-GCB
INN or Proposed INN: velaglucerase alfa
Other descriptive name: Gene activated human glucocerebrosidase, velaglucerase alfa
Shire Human Genetic Therapies, Inc.NULLNot Recruiting Female: yes
Male: yes
102 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): noSpain;United Kingdom
710NCT00882921
(ClinicalTrials.gov)
October 14, 200816/4/2009An Observational Study Evaluating Anti-Idursulfase Serum Antibody Response in Hunter Syndrome PatientsA Multi-Center Observational Study Evaluating Anti-Idursulfase Serum Antibody Response in Hunter Syndrome Patients Enrolled in the Hunter Outcome Survey (HOS) Receiving Idursulfase Enzyme Replacement TherapyHunter SyndromeBiological: IdursulfaseShireNULLCompleted5 YearsN/AMale26United States;Brazil;United Kingdom
711EUCTR2007-000498-42-ES
(EUCTR)
08/10/200810/07/2008Ensayo clinico de fase III, multicéntrico, aleatorizado, doble ciego; para evaluar la seguridad y eficacia de dos grupos paralelos de dosis de glucocerebrosidasa humana recombinante expresada en células vegetales (prGCD) en pacientes con enfermedad de Gaucher.A phase III Multicenter, Randomized, Double-Blind Trial to Assess the Safety and Efficacy of Two Parallel Dose Groups of Plant Cell Expressed Recombinant Human Glucocerebrosidase (prGCD) in Patients with Gaucher Disease. - NAEnsayo clinico de fase III, multicéntrico, aleatorizado, doble ciego; para evaluar la seguridad y eficacia de dos grupos paralelos de dosis de glucocerebrosidasa humana recombinante expresada en células vegetales (prGCD) en pacientes con enfermedad de Gaucher.A phase III Multicenter, Randomized, Double-Blind Trial to Assess the Safety and Efficacy of Two Parallel Dose Groups of Plant Cell Expressed Recombinant Human Glucocerebrosidase (prGCD) in Patients with Gaucher Disease. - NA Enfermedad de Gaucher.Gaucher disease.
MedDRA version: 9.1;Level: PT;Classification code 10018048;Term: Gaucher's disease
Product Name: recombinant human glucocerebrosidase
Product Code: prGCD
Other descriptive name: recombinant human glucocerebrosidase
Product Name: recombinant human glucocerebrosidase
Product Code: prGCD
Other descriptive name: recombinant human glucocerebrosidase
Protalix BiotherapeuticsNULLNot RecruitingFemale: yes
Male: yes
30Phase 3Spain;Italy;United Kingdom
712EUCTR2007-005668-28-PT
(EUCTR)
03/10/200815/07/2008A Randomized, Multicenter, Multinational, Phase 3B, Open-Label, Parallel-Group Study of Fabrazyme (agalsidase beta) in Treatment-Naive Male Pediatric Patients with Fabry Disease Without Severe Symptoms - FIELD (Fabrazyme: Intervening Early at a Lower Dose)A Randomized, Multicenter, Multinational, Phase 3B, Open-Label, Parallel-Group Study of Fabrazyme (agalsidase beta) in Treatment-Naive Male Pediatric Patients with Fabry Disease Without Severe Symptoms - FIELD (Fabrazyme: Intervening Early at a Lower Dose) Fabry disease
MedDRA version: 9.1;Level: LLT;Classification code 10016016;Term: Fabry's disease
Trade Name: Fabrazyme
Product Name: Fabrazyme
Product Code: Agalsidase beta
INN or Proposed INN: agalsidase beta
Other descriptive name: recombinant human alpha-galactosidase abbreviated as r-h-alpha-GAL
Genzyme Europe BVNULLNot RecruitingFemale: no
Male: yes
45Phase 3Portugal;Czech Republic;Germany;United Kingdom;Netherlands;France
713NCT01303146
(ClinicalTrials.gov)
October 200823/2/2011Efficacy METAZYM for the Treatment Metachromatic Leukodystrophy Treated With Hematopoietic Stem Cell Transplantationand Safety of METAZYM (Recombinant Human Arylsulfatase A or rhASA) for the Treatment of Patients With Late Infantile MLD Who Had Previously Hematopoietic Stem Cell TransplantationMetachromatic LeukodystrophyDrug: rhARSAAssistance Publique - Hôpitaux de ParisEuropean Leukodystrophy Association;Zymenex A/S;ShireCompleted6 MonthsN/ABoth1Phase 2France
714NCT00744692
(ClinicalTrials.gov)
October 200828/8/2008Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant DisordersA Pilot Study of Reduced Intensity Conditioning in Pediatric Patients <21 Years of Age With Non-Malignant Disorders Undergoing Umbilical Cord Blood TransplantationNon Malignant Disorders;Immunodeficiencies;Congenital Marrow Failures;Hemoglobinopathies;Inborn Errors of Metabolism;Sickle Cell;Thalassemia;Lysosomal Storage DiseaseBiological: Unrelated Umbilical Cord Blood Transplant;Drug: Reduced Intensity ConditioningDuke UniversityNULLCompletedN/A21 YearsAll22Phase 1United States
715EUCTR2007-005668-28-NL
(EUCTR)
04/09/200802/06/2008A Randomized, Multicenter, Multinational, Phase 3B, Open-Label, Parallel-Group Study of Fabrazyme (agalsidase beta) in Treatment-Naive Male Pediatric Patients with Fabry Disease Without Severe Symptoms - FIELD (Fabrazyme: Intervening Early at a Lower Dose)A Randomized, Multicenter, Multinational, Phase 3B, Open-Label, Parallel-Group Study of Fabrazyme (agalsidase beta) in Treatment-Naive Male Pediatric Patients with Fabry Disease Without Severe Symptoms - FIELD (Fabrazyme: Intervening Early at a Lower Dose) Fabry disease
MedDRA version: 9.1;Level: LLT;Classification code 10016016;Term: Fabry's disease
Trade Name: Fabrazyme
Product Name: Fabrazyme
Product Code: Agalsidase beta
INN or Proposed INN: agalsidase beta
Other descriptive name: recombinant human alpha-galactosidase abbreviated as r-h-alpha-GAL
Genzyme Europe BVNULLNot RecruitingFemale: no
Male: yes
24Phase 3France;Portugal;Czech Republic;Germany;Netherlands;United Kingdom
716NCT00701415
(ClinicalTrials.gov)
September 200817/6/2008A Study of Two Fabrazyme (Agalsidase Beta) Dosing Regimens in Treatment-naïve, Male Pediatric Patients Without Severe SymptomsA Randomized, Multicenter, Multinational, Phase 3B, Open-Label, Parallel-Group Study of Fabrazyme (Agalsidase Beta) in Treatment-Naïve Male Pediatric Patients With Fabry Disease Without Severe SymptomsFabry DiseaseBiological: Agalsidase betaGenzyme, a Sanofi CompanyNULLCompleted5 Years18 YearsMale31Phase 3United States;Argentina;Brazil;Canada;Czech Republic;Netherlands;Norway;Poland;United Kingdom;Chile;Portugal
717NCT00741338
(ClinicalTrials.gov)
September 200813/8/2008Immune Tolerance Study With Aldurazyme® (Laronidase)A Trial of Antigen-specific Immune Tolerance Induction in Mucopolysaccharidosis I (MPS I) Patients Initiating Enzyme Replacement Therapy With Aldurazyme® (Laronidase)Mucopolysaccharidosis IBiological: Laronidase;Drug: Cyclosporine A (CsA);Drug: Azathioprine (Aza)Genzyme, a Sanofi CompanyBioMarin/Genzyme LLCCompletedN/A5 YearsAll7Phase 1/Phase 2Brazil;Russian Federation;Ukraine
718EUCTR2007-006345-40-DK
(EUCTR)
26/08/200814/01/2008A single center, open-label, non-randomized, uncontrolled, multiple-dose study of the efficacy and long-term safety of Metazym (recombinant human arylsulfatase A or rhASA) for the treatment of patients with late infantile metachromatic leukodystrophyA single center, open-label, non-randomized, uncontrolled, multiple-dose study of the efficacy and long-term safety of Metazym (recombinant human arylsulfatase A or rhASA) for the treatment of patients with late infantile metachromatic leukodystrophy Metachromatic Leukodystrophy (MLD) in late infantile patients
MedDRA version: 9.1;Level: LLT;Classification code 10024381;Term: Leukodystrophy
Product Name: Metazym
Product Code: rhASA
Other descriptive name: recombinant human arylsulfatase A
Shire Pharmaceutical Ireland LimitedNULLNot RecruitingFemale: yes
Male: yes
Denmark
719EUCTR2007-005668-28-GB
(EUCTR)
29/07/200804/04/2008A study to assess two alternative dosing regimens of Fabrazyme (agalsidase beta) in boys with Fabry disease who have never received any specific treatment for this disease and who do not have severe symptoms of the disease.A Randomized, Multicenter, Multinational, Phase 3B, Open-Label, Parallel-Group Study of Fabrazyme (agalsidase beta) in Treatment-Naive Male Pediatric Patients with Fabry Disease Without Severe Symptoms - FIELD (Fabrazyme: Intervening Early at a Lower Dose) Fabry disease
MedDRA version: 14.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Trade Name: Fabrazyme
Product Name: Fabrazyme
Product Code: Agalsidase beta
INN or Proposed INN: agalsidase beta
Other descriptive name: recombinant human alpha-galactosidase
Genzyme Europe BVNULLNot RecruitingFemale: no
Male: yes
35Phase 3France;Portugal;United States;Czech Republic;Canada;Argentina;Brazil;Poland;Germany;Netherlands;Norway;United Kingdom
720EUCTR2007-005543-22-CZ
(EUCTR)
19/06/200802/01/2008An investigation of 3 dosages of Replagal in adult patients with Fabry diseaseA Multi-center, Open-Label, Randomized Study Evaluating the Safety andEfficacy of Three Dosing Regimens of Replagal Enzyme ReplacementTherapy in Adult Patients with Fabry Disease Fabry Disease
MedDRA version: 14.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Trade Name: Replagal
Product Name: Replagal
INN or Proposed INN: agalsidase alpha
Other descriptive name: Replagal
Shire Human Genetic Therapies, Inc. (Shire HGT)NULLNot RecruitingFemale: yes
Male: yes
43United States;Czech Republic;Slovenia;Paraguay;Finland;Australia;United Kingdom
721NCT00446550
(ClinicalTrials.gov)
June 11, 20089/3/2007A Study of Oral AT2101 (Afegostat Tartrate) in Treatment-naive Patients With Gaucher DiseaseA Randomized, Open-label Study To Assess the Safety and Tolerability of AT2101 in Treatment-naive Adult Patients With Type 1 Gaucher DiseaseGaucher Disease;Type 1 Gaucher Disease;Gaucher Disease, Type 1Drug: afegostat tartrateAmicus TherapeuticsNULLCompleted18 Years74 YearsAll19Phase 2United States;Israel;South Africa;United Kingdom;Germany
722NCT00705939
(ClinicalTrials.gov)
June 200825/6/2008Plant Cell Expressed Recombinant Human Glucocerebrosidase Extension TrialA Multicenter, Double-Blind, Extension Trial of Two Parallel Dose Groups of Plant Cell Expressed Recombinant Human Glucocerebrosidase (prGCD) in Patients With Gaucher DiseaseGaucher DiseaseDrug: Taliglucerase alfaPfizerNULLCompleted18 YearsN/AAll45Phase 3United States;Australia;Canada;Chile;Israel;South Africa;Spain;United Kingdom
723EUCTR2007-007164-20-ES
(EUCTR)
20/05/200821/02/2008Uso racional de los tratamientos por inhibición de sustrato y enzimático sustitutivo en pacientes con Enfermedad de Gaucher tipo 1Uso racional de los tratamientos por inhibición de sustrato y enzimático sustitutivo en pacientes con Enfermedad de Gaucher tipo 1 Tratamiento de la enfermedad de Gaucher
MedDRA version: 9.1;Level: LLT;Classification code 10018048;Term: Gaucher's disease
Trade Name: CEREZYME
INN or Proposed INN: IMIGLUCERASA
Trade Name: MIGLUSTAT (ZAVESCA)
INN or Proposed INN: MIGLUSTAT
INSTITUTO ARAGONÉS DE CIENCIAS DE LA SALUDNULLNot RecruitingFemale: yes
Male: yes
Spain
724EUCTR2008-000084-41-DK
(EUCTR)
15/05/200815/01/2008A multi-center open label extension study of HGT-1111 (Recombinant Human Arylsulfatase A or rhASA) treatment in patients with Late Infantile Metachromatic Leukodystrophy (MLD)A multi-center open label extension study of HGT-1111 (Recombinant Human Arylsulfatase A or rhASA) treatment in patients with Late Infantile Metachromatic Leukodystrophy (MLD) Metachromatic Leukodystrophy (MLD) in late infantile patients
MedDRA version: 9.1;Level: LLT;Classification code 10024381;Term: Leukodystrophy
Product Name: HGT-1111
Product Code: rhASA
INN or Proposed INN: Not available
Other descriptive name: recombinant human arylsulfatase A
Shire Human Genetic Therapies IncNULLNot RecruitingFemale: yes
Male: yes
0Phase 2France;Belgium;Denmark;Italy
725EUCTR2007-000498-42-GB
(EUCTR)
08/05/200807/01/2008A Phase III Multicenter, Randomized, Double-Blind Trial to Assess the Safety and Efficacy of Two Parallel Dose Groups of Plant Cell Expressed Recombinant Human Glucocerebrosidase (prGCD) in Patients with Gaucher Disease - NAA Phase III Multicenter, Randomized, Double-Blind Trial to Assess the Safety and Efficacy of Two Parallel Dose Groups of Plant Cell Expressed Recombinant Human Glucocerebrosidase (prGCD) in Patients with Gaucher Disease - NA Gaucher disease
MedDRA version: 9.1;Level: PT;Classification code 10018048;Term: Gaucher's disease
Product Name: recombinant human glucocerebrosidase
Product Code: prGCD
Other descriptive name: recombinant human glucocerebrosidase
Product Name: recombinant human glucocerebrosidase
Product Code: prGCD
Other descriptive name: recombinant human glucocerebrosidase
Protalix BiotherapeuticsNULLNot Recruiting Female: yes
Male: yes
30 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): noSpain;Italy;United Kingdom
726NCT00679744
(ClinicalTrials.gov)
May 200815/5/2008A Phase I Study of Pyrimethamine in Patients With GM2 GangliosidosisA Dose-Escalated, Double-Blind, Placebo-Controlled, Randomized Phase I Clinical Trial of Pyrimethamine in Patients Affected With Chronic GM2 Gangliosidosis (Tay-Sachs or Sandhoff Variants)G(M2) Ganglioside;Tay-Sachs Disease Ganglioside;Sandhoff Disease GangliosideDrug: PyrimethamineExsar CorporationUniversity Hospital Case Medical Center;New York University School of Medicine;The Hospital for Sick ChildrenWithdrawn18 YearsN/ABoth0Phase 1United States;Canada
727NCT00635427
(ClinicalTrials.gov)
May 20086/3/2008An Open-Label Extension Study of GA-GCB ERT in Patients With Type 1 Gaucher DiseaseAn Open-Label Extension Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Patients With Type 1 Gaucher DiseaseGaucher Disease, Type 1Biological: VPRIV®ShireNULLCompleted2 YearsN/AAll95Phase 3United States;Argentina;India;Israel;Korea, Republic of;Paraguay;Poland;Russian Federation;Spain;Tunisia;United Kingdom
728EUCTR2006-006304-11-IT
(EUCTR)
14/04/200804/08/2008A Multicenter Open-Label Study of Gene-Activated Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Patients with Type 1 Gaucher Disease Previously Treated with Imiglucerase - NDA Multicenter Open-Label Study of Gene-Activated Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Patients with Type 1 Gaucher Disease Previously Treated with Imiglucerase - ND Patients with type 1 Gaucher disease who previously received imiglucerase
MedDRA version: 9.1;Level: LLT;Classification code 10018048;Term: Gaucher's disease
Product Name: Gene-Activated Human Glucocerebrosidase
Product Code: GA-GCB
SHIRE HUMAN GENETIC THERAPIES, INC.NULLNot RecruitingFemale: yes
Male: yes
40United Kingdom;Spain;Italy
729NCT00668564
(ClinicalTrials.gov)
March 200825/4/2008Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of MetabolismTreatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell TransplantationHurler's Syndrome;Maroteaux-Lamy Syndrome;Sly Syndrome;Alpha Mannosidosis;Fucosidosis;Aspartylglucosaminuria;Sphingolipidoses;Krabbe Disease;Wolman's Disease;Niemann-Pick Disease Type B;Niemann-Pick Disease, Type CProcedure: Stem Cell Transplantation;Drug: Cyclophosphamide;Drug: Campath-1H;Drug: BusulfanMasonic Cancer Center, University of MinnesotaNULLTerminatedN/A21 YearsAll18Phase 2United States
730EUCTR2007-007165-20-DK
(EUCTR)
26/02/200814/01/2008A single center, open-label, non-randomized, uncontrolled, multiple-dose study of the efficacy and safety of Metazym (recombinant human arylsulfatase A or rhASA) for the treatment of MLD patients with high residual level of voluntary functionA single center, open-label, non-randomized, uncontrolled, multiple-dose study of the efficacy and safety of Metazym (recombinant human arylsulfatase A or rhASA) for the treatment of MLD patients with high residual level of voluntary function Metachromatic Leukodystrophy (MLD) in late infantile patients
MedDRA version: 9.1;Level: LLT;Classification code 10024381;Term: Leukodystrophy
Product Name: Metazym
Product Code: rhASA
Other descriptive name: recombinant human arylsulfatase A
Shire Pharmaceuticals Ireland LimitedNULLNot RecruitingFemale: yes
Male: yes
6Phase 2Denmark
731EUCTR2007-002840-21-IT
(EUCTR)
25/02/200815/04/2008A Multicenter, Randomized, Double-Blind, Parallel-Group Study of Gene-Activated Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy Compared with Imiglucerase in Patients with Type I Gaucher Disease - GCB039A Multicenter, Randomized, Double-Blind, Parallel-Group Study of Gene-Activated Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy Compared with Imiglucerase in Patients with Type I Gaucher Disease - GCB039 Patients with Gaucher disease of type 1
MedDRA version: 9.1;Level: LLT;Classification code 10018048;Term: Gaucher's disease
Product Name: Gene Activated Human Glucocerebrosidase
Product Code: GA-GCB
Product Name: imiglucerasi
INN or Proposed INN: Imiglucerase
SHIRE HUMAN GENETIC THERAPIES, INC.NULLNot RecruitingFemale: yes
Male: yes
32United Kingdom;Spain;Italy
732EUCTR2007-006024-35-FR
(EUCTR)
04/02/200812/12/2007Adaptive dose regimen of Cystadrops for cOrneal Crystal deposiTs and ocular manifestations in nephropathic cystinosis : an open label, dose-response pilot study - CYSTADROPS OCT-1 pilot studyAdaptive dose regimen of Cystadrops for cOrneal Crystal deposiTs and ocular manifestations in nephropathic cystinosis : an open label, dose-response pilot study - CYSTADROPS OCT-1 pilot study Nephropathic cystinotic patients with cystine crystals corneal deposits
MedDRA version: 9.1;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders
Product Name: CYSTADROPS
INN or Proposed INN: cysteamine hydrochloride
Other descriptive name: mercaptamine, mercamine, 2-aminoethanethiol
Orphan Europe SARLNULLNot RecruitingFemale: yes
Male: yes
France
733NCT00681811
(ClinicalTrials.gov)
February 200819/5/2008Open-Label Extension Study of Recombinant Human Arylsulfatase A (HGT-1111) in Late Infantile MLDA Multi-center, Open-Label Extension Study of HGT-1111 (Recombinant Human Arylsulfatase A or rhASA) Treatment in Patients With Late Infantile Metachromatic Leukodystrophy (MLD)Late Infantile Metachromatic LeukodystrophyDrug: HGT-1111ShireNULLTerminated3 Years6 YearsAll11Phase 2Denmark
734NCT00638547
(ClinicalTrials.gov)
January 2, 200811/3/2008Intrathecal Enzyme Replacement for Hurler SyndromeIntrathecal Enzyme Replacement Therapy For Patients With Mucopolysaccharidosis Type I (Hurler Syndrome)Hurler SyndromeDrug: IRT LaronidaseMasonic Cancer Center, University of MinnesotaNULLCompleted6 Months3 YearsAll26Phase 1United States
735NCT00786968
(ClinicalTrials.gov)
January 200817/6/2008Extension Study of Intrathecal Enzyme Replacement Therapy for MPS IAn Extension Study of Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis ISpinal Cord Compression;Mucopolysaccharidosis I;Hurler-Scheie Syndrome;Scheie Syndrome;Lysosomal Storage DiseaseDrug: laronidasePatricia I. Dickson, M.D.The Ryan Foundation for MPS ChildrenTerminated8 YearsN/ABoth3Phase 1United States;Finland
736NCT01760564
(ClinicalTrials.gov)
January 20082/1/2013Application of Miglustat in Patients With Niemann-Pick Type CApplication of Miglustat in Patients With Niemann-Pick Type CNiemann-Pick Disease Type CDrug: MiglustatNational Taiwan University HospitalNULLCompletedN/AN/ABoth5Phase 3Taiwan
737NCT00553631
(ClinicalTrials.gov)
January 20081/11/2007Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher DiseaseA Multicenter, Randomized, Double-Blind, Parallel-Group Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy Compared With Imiglucerase in Patients With Type I Gaucher DiseaseGaucher Disease, Type 1Biological: velaglucerase alfa;Biological: imigluceraseShireNULLCompleted2 YearsN/AAll34Phase 3United States;Argentina;India;Israel;Paraguay;Russian Federation;Spain;Tunisia;United Kingdom
738EUCTR2007-003359-35-DE
(EUCTR)
28/12/200722/12/2008A RANDOMIZED, OPEN-LABEL STUDY TO ASSESS THE SAFETY AND TOLERABILITY OF AT2101 IN TREATMENT-NAIVE ADULT PATIENTS WITH TYPE 1 GAUCHER DISEASEA RANDOMIZED, OPEN-LABEL STUDY TO ASSESS THE SAFETY AND TOLERABILITY OF AT2101 IN TREATMENT-NAIVE ADULT PATIENTS WITH TYPE 1 GAUCHER DISEASE Type 1 Gaucher DiseaseProduct Name: Isofagamine tartrate
Product Code: AT2101
Amicus Therapeutics, Inc.NULLNot RecruitingFemale: yes
Male: yes
16United Kingdom;Germany
739EUCTR2007-003359-35-GB
(EUCTR)
19/12/200714/09/2007A RANDOMIZED, OPEN-LABEL STUDY TO ASSESS THE SAFETY AND TOLERABILITY OF AT2101 IN TREATMENT-NAIVE ADULT PATIENTS WITH TYPE 1 GAUCHER DISEASEA RANDOMIZED, OPEN-LABEL STUDY TO ASSESS THE SAFETY AND TOLERABILITY OF AT2101 IN TREATMENT-NAIVE ADULT PATIENTS WITH TYPE 1 GAUCHER DISEASE Type 1 Gaucher DiseaseProduct Name: Isofagamine tartrate
Product Code: AT2101
Amicus Therapeutics, Inc.NULLNot RecruitingFemale: yes
Male: yes
16Germany;United Kingdom
740EUCTR2005-001651-37-HU
(EUCTR)
10/12/200704/10/2007Open-label, non-comparative, multi-center study to evaluate the long-term efficacy, safety and tolerability of oral miglustat as a maintenance therapy after a switch from enzyme replacement therapy in adult patients with stable type 1 Gaucher disease.Open-label, non-comparative, multi-center study to evaluate the long-term efficacy, safety and tolerability of oral miglustat as a maintenance therapy after a switch from enzyme replacement therapy in adult patients with stable type 1 Gaucher disease. Gaucher disease is the most common of the glycosphingolipid storage diseases and has autosomal recessive inheritance. For a more precise description, please refer to page 18 of the protocol:1BACKGROUND AND RATIONALE1.1Disease
MedDRA version: 9.1;Level: LLT;Classification code 10018048;Term: Gaucher's disease
Trade Name: Zavesca
Product Name: Miglustat
Product Code: OGT918
INN or Proposed INN: miglustat
Actelion Pharmaceuticals LtdNULLNot RecruitingFemale: yes
Male: yes
50Hungary;Czech Republic;Germany;United Kingdom;Spain;Italy
741EUCTR2006-001910-33-GB
(EUCTR)
05/12/200702/05/2006A Multicenter, Multinational Study of the Effects of Fabrazyme® (agalsidase beta) Treatment on Lactation and Infants - Effects of Fabrazyme Treatment on Lactation and InfantsA Multicenter, Multinational Study of the Effects of Fabrazyme® (agalsidase beta) Treatment on Lactation and Infants - Effects of Fabrazyme Treatment on Lactation and Infants Fabry disease
MedDRA version: 9.1;Level: PT;Classification code 10016016;Term: Fabry's disease
Trade Name: Fabrazyme
Product Name: Fabrazyme
Product Code: Agalsidase beta
INN or Proposed INN: agalsidase beta
Other descriptive name: agalsidase beta
Genzyme Europe BVNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
10United Kingdom;Austria
742NCT00607386
(ClinicalTrials.gov)
December 200722/1/2008Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase TherapyA Multi-Center, Open-Label Study Evaluating Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase Enzyme Replacement TherapyHunter Syndrome;Mucopolysaccharidosis II;MPS IIBiological: IdursulfaseShireCovance;PharmaNet;PRA Health SciencesCompletedN/A5 YearsMale28Phase 4Brazil;Poland;Taiwan
743EUCTR2007-002840-21-GB
(EUCTR)
29/11/200711/10/2007A Multicenter, Randomized, Double-Blind, Parallel-Group Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy Compared with Imiglucerase in Patients with Type I Gaucher Disease - HGT-GCB-039A Multicenter, Randomized, Double-Blind, Parallel-Group Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy Compared with Imiglucerase in Patients with Type I Gaucher Disease - HGT-GCB-039 Type I Gaucher disease
MedDRA version: 9.1;Level: LLT;Classification code 10018048;Term: Gaucher's disease
Product Name: Gene Activated Human glucocerebrosidase
Product Code: GA-GCB
INN or Proposed INN: velaglucerase alfa
Other descriptive name: Gene activated human glucocerebrosidase
Trade Name: Cerezyme
Product Name: Cerezyme
INN or Proposed INN: IMIGLUCERASE
Trade Name: Cerezyme
Product Name: Cerezyme
INN or Proposed INN: IMIGLUCERASE
Shire Human Genetic Therapies, Inc.NULLNot RecruitingFemale: yes
Male: yes
32United Kingdom;Spain;Italy
744EUCTR2007-002840-21-ES
(EUCTR)
30/10/200718/07/2007A Multicenter, Randomized, Double-Blind, Parallel-Group Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy Compared with Imiglucerase in Patients with Type I Gaucher DiseaseEstudio multicéntrico, aleatorizado, a doble ciego, en grupos paralelos sobre la terapia de reemplazo enzimático con Gene-Activated® glucocerebrosidasa humana (GA-GCB) en comparación con imiglucerasa en pacientes con enfermedad de Gaucher de tipo 1 - GCB039A Multicenter, Randomized, Double-Blind, Parallel-Group Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy Compared with Imiglucerase in Patients with Type I Gaucher DiseaseEstudio multicéntrico, aleatorizado, a doble ciego, en grupos paralelos sobre la terapia de reemplazo enzimático con Gene-Activated® glucocerebrosidasa humana (GA-GCB) en comparación con imiglucerasa en pacientes con enfermedad de Gaucher de tipo 1 - GCB039 Type I Gaucher diseaseEnfermedad de Gaucher tipo 1
MedDRA version: 9.1;Level: LLT;Classification code 10018048;Term: Gaucher's disease
Product Name: Gene Activated Human glucocerebrosidase
Product Code: GA-GCB
Other descriptive name: Gene activated human glucocerebrosidase
Trade Name: Cerezyme
INN or Proposed INN: IMIGLUCERASE
Shire Human Genetic Therapies IncNULLNot RecruitingFemale: yes
Male: yes
32Phase 3Spain;Italy;United Kingdom
745NCT00526071
(ClinicalTrials.gov)
September 17, 20075/9/2007Open-label Long-term Safety Study of AT1001 (Migalastat Hydrochloride) in Participants With Fabry Disease Who Have Completed a Previous AT1001 StudyOpen-label Extension Study to Evaluate the Long-term Safety, Tolerability and Pharmacodynamics of AT1001 in Patients With Fabry DiseaseFabry DiseaseDrug: migalastat HClAmicus TherapeuticsNULLTerminated18 YearsN/AAll23Phase 2United States;Australia;Brazil;France;United Kingdom
746EUCTR2006-006304-11-ES
(EUCTR)
27/08/200704/03/2010A multicenter open-label study of Gene-Activated Human Glucocerebrosidase (GA-GCB) enzyme replacement therapy in patients with type 1 Gaucher disease previously treated wiht imiglucerase.Estudio abierto multicéntrico sobre la terapia de sustitución enzimática con glucocerebrosidasa humana genéticamente activada (Gene-Activated®, GA-GCB) en pacientes con enfermedad de Gaucher de tipo 1 previamente tratados con imiglucerasa - TKT034A multicenter open-label study of Gene-Activated Human Glucocerebrosidase (GA-GCB) enzyme replacement therapy in patients with type 1 Gaucher disease previously treated wiht imiglucerase.Estudio abierto multicéntrico sobre la terapia de sustitución enzimática con glucocerebrosidasa humana genéticamente activada (Gene-Activated®, GA-GCB) en pacientes con enfermedad de Gaucher de tipo 1 previamente tratados con imiglucerasa - TKT034 Type I Gaucher DiseaseEnfermedad de Gaucher de Tipo I
MedDRA version: 9.1;Level: LLT;Classification code 10018048;Term: Gaucher's disease
Product Name: Gene-Activated Human Glucocerebrosidase
Product Code: GA-GCB
Other descriptive name: Gene activated human glucocerebrosidase
Shire Human Genetic Therapies IncNULLNot RecruitingFemale: yes
Male: yes
40Phase 2;Phase 3Spain;Germany;Italy;United Kingdom
747EUCTR2005-003512-30-PT
(EUCTR)
13/08/200724/07/2007A Phase 4 Multi-center, Multi-national, Open-label, Randomized, Two Dose Level Study of Naglazyme (galsulfase) in Infants with Maroteaux-Lamy Syndrome (MPS VI) - N/AA Phase 4 Multi-center, Multi-national, Open-label, Randomized, Two Dose Level Study of Naglazyme (galsulfase) in Infants with Maroteaux-Lamy Syndrome (MPS VI) - N/A Mucopolysaccharidosis Type VI (MPS VI; Maroteaux-Lamy Syndrome)
MedDRA version: 9.1;Level: LLT;Classification code 10056892;Term: Mucopolysaccharidosis VI
Trade Name: Naglazyme (galsulfase)BioMarin Pharmaceutical IncNULLNot RecruitingFemale: yes
Male: yes
4Phase 4Portugal;France
748NCT00376168
(ClinicalTrials.gov)
August 200712/9/2006A Phase III Trial to Assess the Safety and Efficacy of Plant Cell Expressed GCD in Patients With Gaucher DiseaseA Phase III, Multicenter, Randomized, Double-Blind Trial to Assess the Safety and Efficacy of Two Parallel Dose Groups of Plant Cell Expressed Recombinant Human Glucocerebrosidase (prGCD) in Patients With Gaucher DiseaseGaucher DiseaseDrug: Plant cell expressed recombinant glucocerebrosidase (prGCD)PfizerNULLCompleted18 YearsN/AAll32Phase 3United States;Canada;Chile;Israel;Italy;South Africa;Spain;United Kingdom
749NCT00633139
(ClinicalTrials.gov)
August 200729/2/2008Long-term Metazym Treatment of Patients With Late Infantile Metachromatic Leukodystrophy (MLD)A Single Center, Open-Label, Non-Randomized, Uncontrolled, Multiple-Dose, Dose Escalation Study of the Safety, Pharmacokinetics, Efficacy and Long Term Safety of HGT-1111 (Recombinant Human Arylsulfatase A [rhASA, Metazym]) for the Treatment of Patients With Late Infantile Metachromatic Leukodystrophy (MLD)Late Infantile Metachromatic LeukodystrophyBiological: Recombinant human Arylsulfatase A (rhASA)ShireNULLCompleted1 Year5 YearsAll13Phase 1/Phase 2Denmark
750NCT00478647
(ClinicalTrials.gov)
July 25, 200723/5/2007Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With ImigluceraseA Multicenter Open-Label Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Patients With Type 1 Gaucher Disease Previously Treated With ImigluceraseGaucher DiseaseBiological: GA-GCB (velaglucerase alfa)ShireNULLCompleted2 YearsN/AAll40Phase 2/Phase 3United States;Israel;Poland;Spain;United Kingdom
751EUCTR2006-006304-11-GB
(EUCTR)
03/07/200712/02/2007A multicenter open-label study of Gene-Activated Human Glucocerebrosidase (GA-GCB) enzyme replacement therapy in patients with type 1 Gaucher disease previously treated wiht imiglucerase - TKT034A multicenter open-label study of Gene-Activated Human Glucocerebrosidase (GA-GCB) enzyme replacement therapy in patients with type 1 Gaucher disease previously treated wiht imiglucerase - TKT034 Type I Gaucher Disease
MedDRA version: 9.1;Level: LLT;Classification code 10018048;Term: Gaucher's disease
Product Name: Gene-Activated Human Glucocerebrosidase
Product Code: GA-GCB
Other descriptive name: Gene activated human glucocerebrosidase
Shire Human Genetic Therapies IncNULLNot Recruiting Female: yes
Male: yes
40 Human pharmacology (Phase 1): Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4):Spain;Germany;Italy;United Kingdom
752EUCTR2007-001453-26-NL
(EUCTR)
02/07/200713/11/2009Natural course, effects of enzyme therapy and health economic aspects in patients with mucopolysaccharidosis type I, II and VI. Long-term folloe-up of untreated patients and patients receiving commercially available Aldurazyme, Elaprase and Naglazyme.Natural course, effects of enzyme therapy and health economic aspects in patients with mucopolysaccharidosis type I, II and VI. Long-term folloe-up of untreated patients and patients receiving commercially available Aldurazyme, Elaprase and Naglazyme. Mucopolysaccharidosis type I, II and VI.
MedDRA version: 12.0;Level: LLT;Classification code 10028095;Term: Mucopolysaccharidosis IV
MedDRA version: 12.0;Classification code 10056886;Term: Mucopolysaccharidosis I
MedDRA version: 12.0;Level: PT;Classification code 10056889;Term: Mucopolysaccharidosis II
Trade Name: Elaprase
Product Name: idursulfase
INN or Proposed INN: IDURSULFASE
Other descriptive name: Elaprase
Trade Name: Naglazyme
Product Name: Naglazyme
INN or Proposed INN: GALSULFASE
Trade Name: Aldurazyme
Product Name: Aldurazyme
INN or Proposed INN: LARONIDASE
Other descriptive name: Aldurazyme
NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
50Netherlands
753NCT00683189
(ClinicalTrials.gov)
June 200721/5/2008Effect of Warfarin in the Treatment of Metachromatic LeukodystrophyEffect of Warfarin in the Treatment of Metachromatic LeukodystrophyMetachromatic LeukodystrophyDrug: WarfarinThe Cooper Health SystemNULLCompleted1 Year10 YearsBoth10N/AUnited States
754EUCTR2005-003512-30-FR
(EUCTR)
05/04/200726/03/2007A Phase 4 Multi-center, Multi-national, Open-label, Randomized, Two Dose Level Study of Naglazyme (galsulfase) in Infants with Maroteaux-Lamy Syndrome (MPS VI) - N/AA Phase 4 Multi-center, Multi-national, Open-label, Randomized, Two Dose Level Study of Naglazyme (galsulfase) in Infants with Maroteaux-Lamy Syndrome (MPS VI) - N/A Mucopolysaccharidosis Type VI (MPS VI; Maroteaux-Lamy Syndrome)
MedDRA version: 6.0;Level: PT;Classification code 10056892
Trade Name: Naglazyme
Product Name: Naglazyme
INN or Proposed INN: galsulfase
Other descriptive name: recombinant human Arysulfatase B, recombinant human N-acetylgalactosamine 4-sulfatase
BioMarin Pharmaceutical Inc.NULLNot RecruitingFemale: yes
Male: yes
4Phase 4Portugal;France
755EUCTR2006-005216-27-FI
(EUCTR)
26/03/200714/03/2007Selkäytimeen annettu entsyymikorvaus mukopolysakkaridoosi I:n selkäytimen puristuman hoidossa. Kansainvälinen monikeskustutkimus. A study of intrathecal enzyme replacement therapy for spinal cord compression in mucopolysaccharidosis I, MIRC-001. - Intrathecal enzyme replacement in MPS ISelkäytimeen annettu entsyymikorvaus mukopolysakkaridoosi I:n selkäytimen puristuman hoidossa. Kansainvälinen monikeskustutkimus. A study of intrathecal enzyme replacement therapy for spinal cord compression in mucopolysaccharidosis I, MIRC-001. - Intrathecal enzyme replacement in MPS I Mucopolysaccharidosis I H/S, lysosomal storage disease with clinical manifestations such as progressive joint stiffness, growth retardation, corneal clouding, hepatosplenomegaly, cardiac and respiratory dysfunction, and in severe fore, mental retardation
MedDRA version: 9.1;Level: LLT;Classification code 10056887;Term: Mucopolysaccharidosis IH/S
Trade Name: Aldurazyme
Other descriptive name: LARONIDASE
HUS, Hospital for Children and AdolescentsNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
10Finland
756NCT00433147
(ClinicalTrials.gov)
March 23, 20077/2/2007A Study of AT2101 (Afegostat Tartrate) in Adult Patients With Type 1 Gaucher Disease Currently Receiving Enzyme Replacement TherapyA Randomized, Open-label Study to Assess the Safety and Tolerability of Multiple Dose Levels and Multiple Dosing Regimens of AT2101 in Adult Patients With Type 1 Gaucher Disease Currently Receiving Enzyme Replacement TherapyGaucher Disease, Type 1;Type 1 Gaucher Disease;Gaucher DiseaseDrug: Afegostat tartrateAmicus TherapeuticsNULLCompleted18 Years74 YearsAll30Phase 2United States
757NCT00446862
(ClinicalTrials.gov)
March 200711/3/2007The Fabrazyme® and Arbs and ACE Inhibitor Treatment (FAACET) StudyMulti-center, Open-label Study of the Safety and Efficacy of Control of Proteinuria With ACE Inhibitors and ARBS in Patients With Fabry Disease Who Are Receiving Fabrazyme®: The FAACET StudyFabry Disease;ProteinuriaDrug: enalapril and other angiotensin converting enzyme inhibitors; losartan and other angiotensin receptor blockersUniversity of Alabama at BirminghamNULLCompleted19 Years85 YearsBoth36N/AUnited States;Slovenia;Germany
758NCT00430625
(ClinicalTrials.gov)
February 15, 20071/2/2007A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher DiseaseA Multicenter, Randomized, Double-Blind, Parallel Group, Two-Dose Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Patients With Type 1 Gaucher DiseaseGaucher Disease, Type 1Biological: VPRIV ®,ShireNULLCompleted2 YearsN/AAll25Phase 3Argentina;Israel;Paraguay;Russian Federation;Tunisia;United States
759NCT00418561
(ClinicalTrials.gov)
January 22, 20074/1/2007Metazym for the Treatment of Patients With Late Infantile Metachromatic Leukodystrophy (MLD)A Single Center, Open-label, Non-randomized, Uncontrolled, Multiple-dose, Dose Escalation Study of the Safety, Pharmacokinetics and Efficacy of Metazym for the Treatment of Patients With Late Infantile Metachromatic Leukodystrophy (MLD)Metachromatic Leukodystrophy (MLD)Biological: rhASA - Dose Level 1;Biological: rhASA - Dose Level 2;Biological: rhASA - Dose Level 3ShireNULLCompleted1 Year5 YearsAll13Phase 1Denmark
760EUCTR2006-005341-11-DK
(EUCTR)
28/12/200608/11/2006A single center, open-label, non-randomized, uncontrolled, multiple-dose, dose escalation study of the safety, pharmacokinetics and efficacy of Metazym (recombinant human arylsulfatase A or rhASA) for the treatment of patients with late infantile metachromatic leukodystrophy (MLD)A single center, open-label, non-randomized, uncontrolled, multiple-dose, dose escalation study of the safety, pharmacokinetics and efficacy of Metazym (recombinant human arylsulfatase A or rhASA) for the treatment of patients with late infantile metachromatic leukodystrophy (MLD) Late infantile metachromatic leukodystrophy (MLD)
MedDRA version: 9.1;Level: LLT;Classification code 10024381;Term: Leukodystrophy
Product Name: Metazym
Product Code: rhASA
INN or Proposed INN: Arylsulfatase A
Other descriptive name: Metazym
Shire Pharmaceuticals Ireland LimitedNULLNot RecruitingFemale: yes
Male: yes
12Denmark
761EUCTR2006-004661-34-FR
(EUCTR)
08/12/200618/10/2006Evaluation d’un traitement par miglustat (Zavesca®) chez les patients atteints de mucopolysaccharidose de type III (maladie de Sanfilippo).Essai thérapeutique de phase IIb randomisé en aveugle contre placebo. - ZAV-MPSIII 2006Evaluation d’un traitement par miglustat (Zavesca®) chez les patients atteints de mucopolysaccharidose de type III (maladie de Sanfilippo).Essai thérapeutique de phase IIb randomisé en aveugle contre placebo. - ZAV-MPSIII 2006 Mucopolysaccharidose de type III
MedDRA version: 8.1;Level: LLT;Classification code 10056890;Term: Mucopolysaccharidosis III
Trade Name: ZAVESCA
Product Name: ZAVESCA
INN or Proposed INN: miglustat
Other descriptive name: MIGLUSTAT
HOSPICES CIVILS DE LYONNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
24Phase 2France
762NCT00410566
(ClinicalTrials.gov)
December 200611/12/2006Safety Study of rhASM Enzyme Replacement Therapy in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease)A Phase I, Single-Center, Single Dose, Dose Escalation Study of Recombinant Human Acid Sphingomyelinase (rhASM) in Adults With Acid Sphingomyelinase Deficiency (ASMD)Acid Sphingomyelinase Deficiency;Niemann-Pick DiseaseDrug: rhASMGenzyme, a Sanofi CompanyNULLTerminated18 Years65 YearsBoth11Phase 1United States
763EUCTR2006-005842-35-IT
(EUCTR)
22/11/200628/10/2009Efficacy and safety of treatment with N-butyl-deoxynojirimycin (NB-DNJ-miglustat) in patients with Niemann-Pick disease type C. - NDEfficacy and safety of treatment with N-butyl-deoxynojirimycin (NB-DNJ-miglustat) in patients with Niemann-Pick disease type C. - ND NIEMANN-PICK DISEASE TYPE C
MedDRA version: 9.1;Level: LLT;Classification code 10029403
Trade Name: ZAVESCA
INN or Proposed INN: Miglustat
Dipartimento di Pediatria Universita` di Napoli Federico IINULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
Italy
764EUCTR2005-004732-42-IT
(EUCTR)
12/10/200610/07/2007A Phase 2, Open-Label, Multi-Center Study Evaluating the Efficacy, Safety and Pharmacokinetics of Genz-112638 in Gaucher Type 1 Patients - NDA Phase 2, Open-Label, Multi-Center Study Evaluating the Efficacy, Safety and Pharmacokinetics of Genz-112638 in Gaucher Type 1 Patients - ND patients with diagnosis of Gaucher Type I disease
MedDRA version: 9.1;Level: LLT;Classification code 10018048;Term: Gaucher's disease
Product Name: Genz-112638Genzyme Europe BVNULLNot RecruitingFemale: yes
Male: yes
20Phase 2Italy
765EUCTR2005-001651-37-CZ
(EUCTR)
02/10/200617/08/2006Open-label, non-comparative, multi-center study to evaluate the long-term efficacy, safety and tolerability of oral miglustat as a maintenance therapy after a switch from enzyme replacement therapy in adult patients with stable type 1 Gaucher disease. - MAINTENANCEOpen-label, non-comparative, multi-center study to evaluate the long-term efficacy, safety and tolerability of oral miglustat as a maintenance therapy after a switch from enzyme replacement therapy in adult patients with stable type 1 Gaucher disease. - MAINTENANCE Gaucher disease is the most common of the glycosphingolipid storage diseases and has autosomal recessive inheritance. For a more precise description, please refer to page 16 of the protocol:1BACKGROUND AND RATIONALE1.1Disease
MedDRA version: 8.1;Level: LLT;Classification code 10018048;Term: Gaucher's disease
Trade Name: Zavesca
Product Name: Miglustat
Product Code: OGT918
INN or Proposed INN: miglustat
Actelion Pharmaceuticals LtdNULLNot RecruitingFemale: yes
Male: yes
50Hungary;Germany;United Kingdom;Czech Republic;Spain;Italy
766NCT00304512
(ClinicalTrials.gov)
September 7, 200617/3/2006A 12-Week Safety and Pharmacodynamic Study of AT1001 (Migalastat Hydrochloride) in Female Participants With Fabry DiseaseA Phase 2, Open-Label, Multiple Dose Level, 12-Week Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of AT1001 in Female Patients With Fabry DiseaseFabry DiseaseDrug: migalastat HClAmicus TherapeuticsNULLCompleted18 Years65 YearsFemale9Phase 2United States;Australia;Brazil;Canada;France;United Kingdom
767NCT00383448
(ClinicalTrials.gov)
September 200629/9/2006HSCT for High Risk Inherited Inborn ErrorsTreatment of High Risk, Inherited Lysosomal And Peroxisomal Disorders by Reduced Intensity Hematopoietic Stem Cell TransplantationAdrenoleukodystrophy;Metachromatic Leukodystrophy;Globoid Cell Leukodystrophy;Tay Sachs Disease;Sandhoffs Disease;Wolman Disease;I-Cell Disease;Sanfilippo Syndrome;GM1 GangliosidosisDrug: Clofarabine;Procedure: Total body Irradiation;Drug: Melphalan;Biological: Hematopoietic Stem Cell Transplantation;Drug: Alemtuzumab;Drug: mycophenylate mofetil;Device: Cyclosporine A;Drug: HydroxyureaMasonic Cancer Center, University of MinnesotaNULLCompletedN/A70 YearsAll38Phase 2United States
768NCT00230607
(ClinicalTrials.gov)
August 30, 200629/9/2005Study of the Effects of Fabrazyme Treatment on Lactation and InfantsA Multicenter, Multinational Study of the Effects of Fabrazyme (Agalsidase Beta) Treatment on Lactation and InfantsFabry Disease;Alpha Galactosidase A DeficiencyDrug: agalsidase betaGenzyme, a Sanofi CompanyNULLRecruitingN/AN/AAll20Phase 4United States;Austria;United Kingdom
769NCT00962260
(ClinicalTrials.gov)
July 200618/8/2009Expanded Access Trial of Plant Expressed Recombinant Glucocerebrosidase (prGCD) in Patients With Gaucher DiseaseAn Open-label Expanded Access Trial of Plant Cell Expressed Recombinant Human Glucocerebrosidase (prGCD) in Patients With Gaucher Disease Who Require Enzyme Replacement TherapyGaucher DiseaseDrug: Plant cell expressed recombinant glucocerebrosidase (prGCD)PfizerNULLNo longer available18 YearsN/AAllUnited States;Israel
770NCT00283959
(ClinicalTrials.gov)
June 27, 200627/1/2006A 12-Week Safety and Pharmacodynamic Study of AT1001 (Migalastat Hydrochloride) in Participants With Fabry DiseaseA Phase 2, Open-Label, Single Dose Level, 12-Week Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of AT1001 in Patients With Fabry DiseaseFabry DiseaseDrug: migalastat HClAmicus TherapeuticsNULLCompleted18 Years65 YearsMale4Phase 2Australia;Brazil
771NCT00358150
(ClinicalTrials.gov)
June 200627/7/2006A Study of the Efficacy and Safety of Eliglustat Tartrate (Genz-112638) in Type 1 Gaucher PatientsA Phase 2, Open-Label, Multi-Center Study Evaluating the Efficacy, Safety and Pharmacokinetics of Genz-112638 in Gaucher Type 1 PatientsGaucher Disease, Type 1;Cerebroside Lipidosis Syndrome;Glucocerebrosidase Deficiency Disease;Glucosylceramide Beta-Glucosidase Deficiency Disease;Gaucher Disease, Non-Neuronopathic FormDrug: Eliglustat tartrateGenzyme, a Sanofi CompanyNULLCompleted18 Years65 YearsAll26Phase 2United States;Argentina;Israel;Italy;Mexico;Russian Federation
772NCT00302146
(ClinicalTrials.gov)
May 23, 200611/3/2006Positron Emission Tomography (PET) Imaging in People With Gaucher MutationsFunctional Imaging in Subjects With Glucocerebrosidase MutationsParkinson Disease;Gaucher DiseaseDrug: 15-0 H20National Human Genome Research Institute (NHGRI)NULLCompleted18 YearsN/AAll64United States
773NCT00283933
(ClinicalTrials.gov)
May 9, 200627/1/2006A 24-Week Safety and Pharmacodynamic Study of AT1001 (Migalastat Hydrochloride) in Participants With Fabry DiseaseA Phase 2, Open-Label, Single Dose Level, 24-Week Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of AT1001 in Patients With Fabry DiseaseFabry DiseaseDrug: migalastat HClAmicus TherapeuticsNULLCompleted18 Years65 YearsMale5Phase 2France;United Kingdom;Canada
774NCT00337636
(ClinicalTrials.gov)
May 200613/6/2006Study of HuCNS-SC Cells in Patients With Infantile or Late Infantile Neuronal Ceroid Lipofuscinosis (NCL)A Phase I Study of the Safety and Preliminary Effectiveness of Human CNS Stem Cells (HuCNS-SC) in Patients With Neuronal Ceroid Lipofuscinosis Caused by Palmitoyl Protein Thioesterase 1 (PPT1) or Tripeptidyl Peptidase 1 (TPP-I) DeficiencyNeuronal Ceroid LipofuscinosisProcedure: Surgery to implant human CNS stem cells (HuCNS-SC);Drug: Medication to suppress the immune systemStemCells, Inc.NULLCompleted18 Months12 YearsBoth6Phase 1United States
775NCT00299000
(ClinicalTrials.gov)
May 20062/3/2006A Phase 4 Two Dose Level Study of Naglazyme(TM) (Galsulfase) in Infants With MPS VIA Phase 4 Multi-center, Multi-national, Open-label, Randomized, Two Dose Level Study of Naglazyme(TM) (Galsulfase) in Infants With Maroteaux-Lamy Syndrome (MPS VI)Mucopolysaccharidosis VI;Maroteaux-Lamy SyndromeDrug: NaglazymeBioMarin PharmaceuticalNULLCompletedN/A1 YearAll4Phase 4United States;France;Portugal
776EUCTR2005-001651-37-ES
(EUCTR)
12/04/200625/01/2006A phase IV, open-label, non comparative, multi-center study to evaluate the long term efficacy and safety and tolerability of oral miglustat as a maintenance after a switch from Enzyme Replacement Therapy (ERT) in adult patients with stable Type 1 Gaucher DiseaseA phase IV, open-label, non comparative, multi-center study to evaluate the long term efficacy and safety and tolerability of oral miglustat as a maintenance after a switch from Enzyme Replacement Therapy (ERT) in adult patients with stable Type 1 Gaucher Disease Gaucher disease is the most common of the glycosphingolipid storage diseases and has autosomal recessive inheritance. For a more precise description, please refer to page 16 of the protocol:1BACKGROUND AND RATIONALE1.1Disease Trade Name: Zavesca
Product Name: Miglustat
Product Code: OGT918
INN or Proposed INN: miglustat
Actelion Pharmaceuticals LtdNULLNot RecruitingFemale: yes
Male: yes
50Phase 4Hungary;Czech Republic;Germany;United Kingdom;Spain;Italy
777NCT00312767
(ClinicalTrials.gov)
April 20067/4/2006A Study in Patients With Fabry Disease Who Are on Chronic Hemodialysis Therapy for Treatment of End-stage Renal Insufficiency.A Multicenter, Open-Label, Cross-Over Trial to Evaluate the Pharmacokinetics of Fabrazyme During Simultaneous Fabrazyme Infusion and Chronic Hemodialysis in Patients With Fabry Disease.Fabry DiseaseDrug: Fabrazyme (agalsidase beta)Genzyme, a Sanofi CompanyNULLWithdrawn18 Years65 YearsBoth0Phase 4United States
778EUCTR2006-000181-36-GB
(EUCTR)
17/03/200613/02/2006A Phase 2, Open-Label, Multiple Dose Level, 12-Week Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of AT1001 in Female Patients with Fabry Disease - Phase 2 Study of AT1001 in Female Patients with Fabry DiseaseA Phase 2, Open-Label, Multiple Dose Level, 12-Week Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of AT1001 in Female Patients with Fabry Disease - Phase 2 Study of AT1001 in Female Patients with Fabry Disease Fabry disease
MedDRA version: 8.1;Level: LLT;Classification code 10016016
Product Name: 1-deoxygalactonojirimycin hydrochloride
Product Code: AT1001
INN or Proposed INN: migalastat hydrochloride
Amicus Therapeutics, Inc.NULLNot Recruiting Female: yes
Male: no
12 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noUnited Kingdom
779EUCTR2005-001651-37-DE
(EUCTR)
28/02/200616/05/2006Open-label, non comparative, multi-center study to evaluate the long term efficacy and safety and tolerability of oral miglustat as a maintenance therapy after a switch from Enzyme Replacement Therapy in adult patients with stable Type 1 Gaucher disease - MAINTENANCEOpen-label, non comparative, multi-center study to evaluate the long term efficacy and safety and tolerability of oral miglustat as a maintenance therapy after a switch from Enzyme Replacement Therapy in adult patients with stable Type 1 Gaucher disease - MAINTENANCE Gaucher disease is the most common of the glycosphingolipid storage diseases and has autosomal recessive inheritance. For a more precise description, please refer to page 18 of the protocol:1BACKGROUND AND RATIONALE1.1Disease
MedDRA version: 9.1;Level: LLT;Classification code 10018048;Term: Gaucher's disease
Trade Name: ZAVESCA
Product Name: Miglustat
Product Code: OGT918
INN or Proposed INN: miglustat
Actelion Pharmaceuticals LtdNULLNot RecruitingFemale: yes
Male: yes
50Hungary;Czech Republic;Spain;Germany;Italy;United Kingdom
780EUCTR2005-001651-37-IT
(EUCTR)
06/02/200614/03/2006A phase IV, open label, non comparative, multicenter study to evaluate the long term efficacy and safety and tolerability of oral miglustat as a maintenance after a switch form enzyme replacement therapy ERT in adult patients with stable type 1 Gaucher disease - NDA phase IV, open label, non comparative, multicenter study to evaluate the long term efficacy and safety and tolerability of oral miglustat as a maintenance after a switch form enzyme replacement therapy ERT in adult patients with stable type 1 Gaucher disease - ND Gaucher disease is the most common of the glycosphingolipids storage disease and has autosomal recessive inheritance.
MedDRA version: 6.1;Level: PT;Classification code 10018048
Trade Name: ZAVESCA 84CPS 100MG
INN or Proposed INN: Miglustat
Actelion Registration LtdNULLNot RecruitingFemale: yes
Male: yes
50Phase 4Hungary;Czech Republic;Germany;United Kingdom;Spain;Italy
781NCT00286689
(ClinicalTrials.gov)
February 3, 20061/2/2006Effects of Growth Hormone in Chronically Ill ChildrenHurler Syndrome;Cerebral Palsy;Juvenile Rheumatoid Arthritis;Crohn Disease;HIV InfectionsDrug: Growth Hormone;Procedure: Whole body Protein turnover;Procedure: DEXA scanUniversity of Texas Southwestern Medical CenterNULLWithdrawn3 Years17 YearsAll0N/AUnited States
782NCT00319046
(ClinicalTrials.gov)
February 1, 200626/4/2006Clinical Study to Evaluate the Long Term Efficacy, Safety and Tolerability of Miglustat in Patients With Stable Type 1 Gaucher DiseaseOpen-label, Non Comparative, Multi-center Study to Evaluate the Long Term Efficacy, Safety and Tolerability of Oral Miglustat as a Maintenance Therapy After a Switch From Enzyme Replacement Therapy in Adult Patients With Stable Type 1 Gaucher DiseaseGaucher Disease Type 1Drug: MiglustatActelionNULLCompleted18 YearsN/AAll42Phase 3United States;Australia;Brazil;Canada;Czechia;France;Germany;Hungary;Italy;Netherlands;Spain;Taiwan;United Kingdom;Czech Republic
783NCT00214500
(ClinicalTrials.gov)
January 2, 200613/9/2005A Study of AT1001 (Migalastat Hydrochloride) in Participants With Fabry DiseaseA Phase 2, Open-Label, Multicenter, 12-Week Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AT1001 in Patients With Fabry DiseaseFabry DiseaseDrug: migalastat HClAmicus TherapeuticsNULLCompleted18 Years55 YearsMale9Phase 2United States
784EUCTR2005-004384-33-GB
(EUCTR)
19/12/200517/10/2005A Phase 2, Open-Label, Single Dose Level, 24-Week Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of AT1001 in Patients with Fabry Disease - Phase 2 study of AT1001 in Fabry DiseaseA Phase 2, Open-Label, Single Dose Level, 24-Week Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of AT1001 in Patients with Fabry Disease - Phase 2 study of AT1001 in Fabry Disease Fabry Disease
MedDRA version: 8.1;Level: LLT;Classification code 10016016
Product Name: 1- Deoxygalactonojirimycin
Product Code: AT1001
INN or Proposed INN: N/A
Other descriptive name: Migalastat hydrochloride
Amicus TherapeuticsNULLNot Recruiting Female: no
Male: yes
8 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noUnited Kingdom
785NCT00258011
(ClinicalTrials.gov)
December 200522/11/2005Study of Aldurazyme® Replacement Therapy in Patients With Mucopolysaccharidosis I (MPS I) DiseaseA Safety Confirmatory Study of JC0498 (Laronidase) in Mucopolysaccharidosis I (MPS I) PatientsMucopolysaccharidosis I;Hurler Syndrome;Hurler-Scheie Syndrome;Scheie SyndromeBiological: Aldurazyme (Recombinant Human Alpha-L-Iduronidase)Genzyme, a Sanofi CompanyBioMarin/Genzyme LLCCompletedN/AN/AAll3Phase 3Japan
786NCT00215527
(ClinicalTrials.gov)
November 200519/9/2005Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis (MPS) IA Study of Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis IMucopolysaccharidosis I;Lysosomal Storage Diseases;Spinal Cord CompressionDrug: laronidasePatricia I. Dickson, M.D.Ryan Foundation for MPS Children;University of California, Los Angeles;FDA Office of Orphan Products DevelopmentTerminated8 YearsN/ABoth4Phase 1United States;Finland
787NCT00258778
(ClinicalTrials.gov)
November 200523/11/2005Phase I Single Dose-Escalation Safety Study of Human Glucocerebrosidase (prGCD)A Phase I, Non-Randomized, Open Label, Single Dose-Escalation Safety Study of Recombinant Human Glucocerebrosidase (prGCD) in Healthy VolunteersGaucher DiseaseDrug: Human Glucocerebrosidase (prGCD)ProtalixNULLCompleted18 Years45 YearsBoth6Phase 1Israel
788EUCTR2005-001651-37-GB
(EUCTR)
27/10/200503/10/2005A phase IV, open-label, non comparative, multi-center study to evaluate the long term efficacy and safety and tolerability of oral miglustat as a maintenance after a switch from Enzyme Replacement Therapy (ERT) in adult patients with stable Type 1 Gaucher DiseaseA phase IV, open-label, non comparative, multi-center study to evaluate the long term efficacy and safety and tolerability of oral miglustat as a maintenance after a switch from Enzyme Replacement Therapy (ERT) in adult patients with stable Type 1 Gaucher Disease Gaucher disease is the most common of the glycosphingolipid storage diseases and has autosomal recessive inheritance. For a more precise description, please refer to page 16 of the protocol: 1BACKGROUND AND RATIONALE 1.1DiseaseTrade Name: Zavesca
Product Name: Miglustat
Product Code: OGT918
INN or Proposed INN: miglustat
Actelion Pharmaceuticals LtdNULLNot Recruiting Female: yes
Male: yes
50 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): yesHungary;Czech Republic;Spain;Germany;Italy;United Kingdom
789EUCTR2004-002743-27-IT
(EUCTR)
26/07/200510/08/2005An open-label extension of study TKT024 evaluating long-term safety and clinical outcomes in MPS II patients receiving iduronate-2-sulfatase enzyme replacement therapy.An open-label extension of study TKT024 evaluating long-term safety and clinical outcomes in MPS II patients receiving iduronate-2-sulfatase enzyme replacement therapy. Mucopolysaccharidosis Type II (MPS II or Hunter Syndrome)
MedDRA version: 6.1;Level: PT;Classification code 10056889
Product Name: Idursulfase
Product Code: I2S
TKT INCNULLNot RecruitingFemale: no
Male: yes
94United Kingdom;Germany;Spain;Italy;Sweden
790NCT00140621
(ClinicalTrials.gov)
July 200530/8/2005A Safety and Efficacy Study of Fabrazyme® Replacement Therapy in Patients With Cardiac Fabry DiseaseA Multicenter Open-label Study of the Safety and Efficacy of a-galactosidase A (R-h a-GAL) Replacement Therapy in Patients With Cardiac Fabry DiseaseFabry DiseaseDrug: Agalsidase betaGenzyme, a Sanofi CompanyNULLCompleted20 Years64 YearsAll6Phase 4Japan
791NCT00487630
(ClinicalTrials.gov)
June 200515/6/2007Evaluation of Efficacy and Safety of Agalsidase Beta in Heterozygous Females for Fabry DiseaseA Multicenter, Phase 4, Randomized, Controlled Study to Evaluate the Efficacy and Safety of Recombinant Alpha-Galactosidase A (Agalsidase Beta, FABRAZYME) in Heterozygous Females for Fabry DiseaseFabry DiseaseDrug: recombinant alpha-galactosidase AAssistance Publique - Hôpitaux de ParisNULLRecruiting15 YearsN/AFemale34Phase 4France
792EUCTR2004-002743-27-SE
(EUCTR)
11/05/200517/03/2005An Open-Label Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Iduronate-2-Sulfatase Enzyme Replacement TherapyAn Open-Label Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Iduronate-2-Sulfatase Enzyme Replacement Therapy Mucopolysaccharidosis Type II (MPS II or Hunter Syndrome)
MedDRA version: 6.1;Level: PT;Classification code 10056889
Product Name: Idursulfase (I2S)
Other descriptive name: Idursulfase
Shire Human Genetic Therapies INC.NULLNot RecruitingFemale: no
Male: yes
96United Kingdom;Germany;Spain;Italy;Sweden
793EUCTR2004-002743-27-ES
(EUCTR)
21/04/200504/04/2006An Open-Label Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Iduronate-2-Sulfatase Enzyme Replacement TherapyAn Open-Label Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Iduronate-2-Sulfatase Enzyme Replacement Therapy Mucopolysaccharidosis Type II (MPS II or Hunter Syndrome)
MedDRA version: 6.1;Level: PT;Classification code 10056889
Product Name: Idursulfase (I2S)
Other descriptive name: Idursulfase
TKT Inc.NULLNot RecruitingFemale: no
Male: yes
94Phase 3Spain;Germany;Italy;United Kingdom;Sweden
794NCT00391625
(ClinicalTrials.gov)
February 200520/10/2006Open-Label Extension Study Evaluating Long Term Safety in Patients With Type 1 Gaucher Disease Receiving DRX008A (ERT)An Open-Label Extension of Study TKT025 Evaluating Long Term Safety in Patients With Type 1 Gaucher Disease Receiving DRX008A Enzyme Replacement TherapyGaucher DiseaseDrug: GA-GCBShireNULLCompleted18 YearsN/AAll10Phase 1/Phase 2Israel;Romania;Serbia;Former Serbia and Montenegro
795EUCTR2004-002743-27-GB
(EUCTR)
31/01/200523/02/2005An Open-Label Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Iduronate-2-Sulfatase Enzyme Replacement TherapyAn Open-Label Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Iduronate-2-Sulfatase Enzyme Replacement Therapy Mucopolysaccharidosis Type II (MPS II or Hunter Syndrome)
MedDRA version: 6.1;Level: PT;Classification code 10056889
Product Name: Idursulfase (I2S)
Other descriptive name: Idursulfase
TKT Inc.NULLNot RecruitingFemale: no
Male: yes
94Phase 3Spain;Germany;Italy;United Kingdom;Sweden
796EUCTR2004-002743-27-DE
(EUCTR)
23/12/200430/11/2004An Open-Label Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Iduronate-2-Sulfatase Enzyme Replacement TherapyAn Open-Label Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Iduronate-2-Sulfatase Enzyme Replacement Therapy Mucopolysaccharidosis Type II (MPS II or Hunter Syndrome)
MedDRA version: 6.1;Level: PT;Classification code 10056889
Product Name: Idursulfase (I2S)
Other descriptive name: Idursulfase
Shire Human Genetic Therapies INC.NULLNot RecruitingFemale: no
Male: yes
96United Kingdom;Germany;Spain;Italy;Sweden
797NCT00144781
(ClinicalTrials.gov)
December 20042/9/2005A Dose-optimization Study of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I (MPS I) DiseaseA Multicenter, Multinational, Randomized, Dose-Optimization Study of the Safety and Pharmacodynamic Response of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis IMucopolysaccharidosis I;Hurler's Syndrome;Hurler-Scheie Syndrome;Scheie SyndromeBiological: Aldurazyme (Recombinant Human Alpha-L-Iduronidase)Genzyme, a Sanofi CompanyBioMarin/Genzyme LLCCompletedN/AN/AAll34Phase 4Brazil;Canada
798NCT00097890
(ClinicalTrials.gov)
November 200430/11/2004Replagal Enzyme Replacement Therapy for Adults With Fabry DiseaseAn Open Label Six-Month Maintenance Clinical Trial of Replagal Enzyme Replacement Therapy in Patients With Fabry Disease Who Have Completed TKT027Fabry DiseaseDrug: Replagal (Agalsidase Alfa);Drug: ReplagalNational Institute of Neurological Disorders and Stroke (NINDS)NULLCompletedN/AN/AMale25Phase 4United States
799NCT00630747
(ClinicalTrials.gov)
September 200428/2/2008Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving IdursulfaseAn Open-Label Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Iduronate-2-Sulfatase Enzyme Replacement TherapyHunter Syndrome;Mucopolysaccharidosis II (MPS II)Biological: IdursulfaseShireNULLCompleted5 YearsN/AMale94Phase 2/Phase 3United States;Brazil;Canada;France;Germany;Italy;Romania;Spain;Sweden;United Kingdom
800EUCTR2004-000772-14-CZ
(EUCTR)
23/07/200428/06/2004A Phase I-II Pharmacokinetic/Pharmacodynamic Study of Replagal to Assess the Effects of Alternative Dose and Regimen in Patients with Fabry Disease (TKT027) - TKT027A Phase I-II Pharmacokinetic/Pharmacodynamic Study of Replagal to Assess the Effects of Alternative Dose and Regimen in Patients with Fabry Disease (TKT027) - TKT027 Fabry Disease
MedDRA version: 6.1;Level: PT;Classification code 10016016
Trade Name: Replagal
Product Name: Replagal
INN or Proposed INN: agalsidase alfa
TKT IncNULLNot RecruitingFemale: no
Male: yes
20Phase 1Czech Republic
801NCT00144768
(ClinicalTrials.gov)
July 20042/9/2005A Study Investigating the Relationship Between the Development of Laronidase Antibody and Urinary GAG (Glycosaminoglycan) Levels in Aldurazyme® Treated PatientsA Multicenter, Multinational, Open-Label Study of Anti-Laronidase Antibody Formation and Urinary GAG Levels in Patients With Mucopolysaccharidosis I (MPS I) Being Treated With Aldurazyme® (Laronidase).Mucopolysaccharidosis I;Hurler's Syndrome;Hurler-Scheie Syndrome;Scheie's SyndromeDrug: laronidaseGenzyme, a Sanofi CompanyBioMarin/Genzyme LLCCompletedN/AN/ABoth25Phase 4United States
802NCT00672022
(ClinicalTrials.gov)
July 20042/5/2008Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset Gangliosidosis: Single and Steady State Oral DosesPharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset GM2 Gangliosidosis: Single and Steady State Oral DosesGM2 Gangliosidoses;Tay-Sachs;Sandhoff DiseaseDrug: Zavesca (Miglustat)Children's Research InstituteActelionCompleted6 Months5 YearsBoth10Phase 3United States
803NCT00418847
(ClinicalTrials.gov)
July 20044/1/2007Pharmacokinetics and Tolerability of Zavesca® (Miglustat) In Patients With Juvenile GM2 GangliosidosisPharmacokinetics and Tolerability of Zavesca® (Miglustat) In Patients With Juvenile GM2 Gangliosidosis: Single and Multiple Oral DosesGangliosidoses GM2Drug: miglustatThe Hospital for Sick ChildrenActelionCompleted6 Years20 YearsBoth5Phase 2Canada
804NCT00151216
(ClinicalTrials.gov)
June 20046/9/2005Safety Study of a Gene Transfer Vector for Children With Late Infantile Neuronal Ceroid LipofuscinosisAdministration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Expressing the Human CLN2 cDNA to the Brain of Children With Late Infantile Neuronal Ceroid LipofuscinosisBatten Disease;Late Infantile Neuronal Ceroid LipofuscinosisBiological: AAV2CUhCLN2 (3x10^12 particle units)Weill Medical College of Cornell UniversityNathan's Battle FoundationCompleted3 Years18 YearsAll10Phase 1United States
805NCT00233870
(ClinicalTrials.gov)
June 20045/10/2005A Long Term Safety and Efficacy Study of Fabrazyme Replacement Therapy in Japanese Patients With Fabry Disease.Special Survey in Long-Term Use of FabrazymeFabry DiseaseDrug: Agalsidase beta (recombinant form)Genzyme, a Sanofi CompanyNULLCompletedN/AN/ABoth405Japan
806NCT00084084
(ClinicalTrials.gov)
June 20045/6/2004Replagal Enzyme Replacement Therapy for Children With Fabry DiseaseAn Open Label Clinical Trial of Replagal Enzyme Replacement Therapy In Children With Fabry Disease Who Have Completed Study TKT023 or Who Are Naive to Enzyme Replacement TherapyFabry DiseaseDrug: Agalsidase alfaShireNULLCompleted7 Years17 YearsAll17Phase 2United States;Canada
807NCT00176891
(ClinicalTrials.gov)
March 200412/9/2005Stem Cell Transplant w/Laronidase for HurlerPhase II Study of Combined Laronidase (AldurazymeTM) Enzyme Replacement Therapy (ERT) With Hematopoietic Stem Cell Transplantation (HSCT) for Hurler Syndrome (MPS IH)Mucopolysaccharidosis I;Hurler SyndromeProcedure: Stem Cell Transplant;Drug: Laronidase ERTMasonic Cancer Center, University of MinnesotaNULLCompletedN/A7 YearsAll25Phase 2United States
808NCT00104234
(ClinicalTrials.gov)
February 200424/2/2005Study of rhASB in Patients With Mucopolysaccharidosis VIA Multicenter, Multinational Open-Label Extension Study of Recombinant Human N-acetylgalactosamine 4-sulfatase (rhASB) in Patients With Mucopolysaccharidosis VIMucopolysaccharidosis VIDrug: N-acetylgalactosamine 4-sulfatase;Drug: Placebo/rhASBBioMarin PharmaceuticalNULLCompleted7 YearsN/AAll39Phase 3United States
809NCT00075244
(ClinicalTrials.gov)
January 20046/1/2004Alternative Dosing and Regimen of Replagal to Treat Fabry DiseaseA Phase I-II Pharmacokinetic/Pharmacodynamic Study of Replagal to Assess the Effects of Alternative Dose and Regimen in Patients With Fabry DiseaseFabry DiseaseDrug: ReplagalNational Institute of Neurological Disorders and Stroke (NINDS)NULLCompletedN/AN/AMale25Phase 2United States
810NCT00081497
(ClinicalTrials.gov)
January 200414/4/2004A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry DiseaseMulti-Center, Open-Label Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease That Previously Participated in the AGAL-008-00 StudyFabry DiseaseBiological: agalsidase betaGenzyme, a Sanofi CompanyNULLCompleted16 YearsN/AAll67Phase 4United States;Canada;Czech Republic;Hungary;Poland;United Kingdom
811NCT00071877
(ClinicalTrials.gov)
October 20033/11/2003An Open-Label Clinical Trial of Replagal Enzyme Therapy in Children Ages 7-17 Years With Fabry DiseaseA Clinical Trial of Replagal Enzyme Replacement Therapy in Children Ages 7 - 17 Years With Fabry DiseaseFabry DiseaseDrug: ReplagalNational Institute of Neurological Disorders and Stroke (NINDS)NULLCompletedN/AN/ABoth25Phase 2United States
812NCT00357786
(ClinicalTrials.gov)
October 200326/7/2006An Open-Label Maintenance Study of the Enzyme Replacement Therapy Replagal in Patients With Fabry DiseaseAn Open-Label Maintenance Study of the Enzyme Replacement Therapy Replagal® (Registered Trademark) in Patients With Fabry DiseaseFabry DiseaseDrug: Replagal agalsidase alfa;Drug: ReplagalNational Institute of Neurological Disorders and Stroke (NINDS)NULLCompleted39 Years45 YearsMale3Phase 1United States
813NCT00067470
(ClinicalTrials.gov)
September 200320/8/2003Study of Recombinant Human N-acetylgalactosamine 4-sulfatase (rhASB) in Patients With MPS VIMucopolysaccharidosis VIDrug: Placebo;Drug: N-acetylgalactosamine 4-sulfataseBioMarin PharmaceuticalNULLCompleted7 YearsN/AAll39Phase 3United States
814NCT00068107
(ClinicalTrials.gov)
September 20036/9/2003Dosing Study of Replagal in Patients With Fabry DiseaseStudy of Weekly Dosing Regimens of Replagal in Patients With Fabry Disease With Incomplete Clinical Response to Long-Term TherapyFabry DiseaseDrug: ReplagalBaylor Research InstituteNational Institute of Neurological Disorders and Stroke (NINDS)CompletedN/AN/AMale13Phase 2United States
815NCT00069641
(ClinicalTrials.gov)
September 200329/9/2003Iduronate-2-sulfatase Enzyme Replacement Therapy in Mucopolysaccharidosis II (MPS II)A Phase II/III, Randomized, Double-Blind, Placebo-Controlled Study Evaluating the Safety and Efficacy of Weekly and Every Other Week Dosing Regimens of Iduronate-2-Sulfatase Enzyme Replacement Therapy in Patients With MPS IIMucopolysaccharidosis IIBiological: Iduronate-2-sulfatase enzyme replacement therapy;Biological: iduronate-2-sulfatase enzyme replacement therapy;Biological: PlaceboShireNULLCompleted5 Years25 YearsMale96Phase 2/Phase 3United Kingdom;Brazil;Germany;United States
816NCT00196716
(ClinicalTrials.gov)
June 200312/9/2005A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry DiseaseA Multicenter, Open-label Study of Low Dose Maintenance Treatment of Fabrazyme (Recombinant Human Alpha-Galactosidase A (R-h Alpha-GAL)) Replacement Therapy in Patients With Fabry DiseaseFabry DiseaseBiological: Fabrazyme (agalsidase beta)Genzyme, a Sanofi CompanyNULLCompleted16 YearsN/AMale21Phase 2Czech Republic;Estonia;Poland;Slovakia
817NCT00837824
(ClinicalTrials.gov)
December 200223/10/2008Severe Renal Disease Study in Fabry Patients Treated With FabrazymeA Phase 2, Randomized, Open Label, Dose-Ranging, Multiple Dose Study of Fabrazyme® In Patients With Fabry Disease and With Severe Renal DiseaseFabry Disease;Chronic Kidney Disease, Stage IV (Severe)Biological: Fabrazyme (agalsidase beta)Genzyme, a Sanofi CompanyCRL/MedinetTerminated16 YearsN/AAll20Phase 2United States
818NCT00048906
(ClinicalTrials.gov)
November 20028/11/2002Alpha-Galactosidase A Replacement Therapy for Fabry DiseaseA Safety and Pharmacokinetic Study of Replagal Enzyme Replacement Therapy in Patients With Fabry DiseaseFabry DiseaseDrug: DRX005BNational Institute of Neurological Disorders and Stroke (NINDS)NULLCompletedN/AN/ABoth3Phase 2United States
819NCT00316498
(ClinicalTrials.gov)
October 17, 200219/4/2006Saccadic Eye Movements in Patients With Niemann-Pick Type C DiseaseA Phase I/II Randomized, Controlled Study of OGT 918 in Adult and Juvenile Patients With Niemann Pick C DiseaseNiemann Pick DiseasesDrug: OGT918National Eye Institute (NEI)NULLCompleted12 YearsN/AAll30Phase 1United States;United Kingdom
820NCT00146757
(ClinicalTrials.gov)
October 20022/9/2005A Study Evaluating the Safety and Pharmacokinetics of Aldurazyme® (Laronidase) in MPS I Patients Less Than 5 Years OldA Phase II Open-Label Clinical Trial of Recombinant Human Alpha-L-iduronidase (Aldurazyme®) to Evaluate the Safety and Pharmacokinetics in Mucopolysaccharidosis I (MPS I) Patients Less Than 5 Years OldMucopolysaccharidosis I;Hurler Syndrome;Hurler-Scheie Syndrome;Scheie SyndromeBiological: Aldurazyme (Recombinant Human Alpha-L-Iduronidase)Genzyme, a Sanofi CompanyBioMarin/Genzyme LLCCompletedN/A5 YearsAll20Phase 2France;Germany;Netherlands;United Kingdom
821NCT00074958
(ClinicalTrials.gov)
October 200224/12/2003A Study of Fabrazyme in Pediatric Patients With Fabry DiseaseA Multi-center, Phase 2, Open-Label Study of Fabrazyme (Recombinant Human a-Galactosidase A) Replacement Therapy in Pediatric Patients With Fabry DiseaseFabry DiseaseBiological: Fabrazyme (agalsidase beta)Genzyme, a Sanofi CompanyNULLCompleted7 Years15 YearsAll16Phase 2United States;France;Poland;United Kingdom;Italy
822NCT00041535
(ClinicalTrials.gov)
July 5, 20029/7/2002OGT 918-006: A Phase I/II Randomized, Controlled Study of OGT 918 in Patients With Neuronopathic Gaucher DiseaseA Phase I/II Randomized, Controlled Study of OGT 918 in Patients With Neuronopathic Gaucher DiseaseGaucher DiseaseDrug: OGT 918National Institute of Neurological Disorders and Stroke (NINDS)NULLCompleted4 YearsN/AAll30Phase 2United States;United Kingdom
823NCT00048711
(ClinicalTrials.gov)
March 20026/11/2002Open-Label Study of Efficacy and Safety of Recombinant Human N-acetylgalactosamine 4-sulfatase in Patients With MPS VIOpen-Label Study of Efficacy and Safety of Recombinant Human N-acetylgalactosamine 4-sulfatase in Patients With MPS VIMucopolysaccharidosis VIDrug: N-acetylgalactosamine 4-sulfataseBioMarin PharmaceuticalNULLCompleted5 YearsN/ABothPhase 2United States
824NCT00517153
(ClinicalTrials.gov)
January 200215/8/2007Miglustat in Niemann-Pick Type C DiseaseA Phase II Randomized Controlled Study of Miglustat in Adult and Juvenile Patients With Niemann-Pick Type C DiseaseNiemann-Pick Type C DiseaseDrug: miglustatActelionNULLCompleted4 YearsN/ABoth29Phase 2United States
825NCT00364858
(ClinicalTrials.gov)
December 200115/8/2006Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher DiseaseA Phase IV, Multicenter, Randomized, Dose Frequency Study of the Safety and Efficacy of Cerezyme® Infusions Every Four Weeks Versus Every Two Weeks in the Maintenance Therapy of Patients With Type 1 Gaucher DiseaseGaucher Disease, Type 1;Cerebroside Lipidosis Syndrome;Glucocerebrosidase Deficiency Disease;Glucosylceramide Beta-Glucosidase Deficiency Disease;Gaucher Disease, Non-Neuronopathic FormDrug: CerezymeGenzyme, a Sanofi CompanyNULLCompleted18 YearsN/AAll95Phase 4United States;Brazil;Canada;Italy;Poland;Spain;United Kingdom
826NCT01997489
(ClinicalTrials.gov)
September 200118/11/2013Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients.Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry PatientsFabry DiseaseDrug: Enzyme replacementRigshospitalet, DenmarkNULLCompleted15 YearsN/ABoth39Phase 4Denmark
827NCT00146770
(ClinicalTrials.gov)
May 20012/9/2005Phase 3 Extension Study of the Safety and Efficacy of Aldurazyme® (Laronidase) in Mucopolysaccharidosis I (MPS I) PatientsA Multicenter, Multinational, Open-Label Extension Study of the Safety and Efficacy of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis IMucopolysaccharidosis I;Hurler's Syndrome;Hurler-Scheie Syndrome;Scheie SyndromeBiological: Aldurazyme;Biological: placeboGenzyme, a Sanofi CompanyBioMarin/Genzyme LLCCompletedN/AN/AAll45Phase 3United States;Brazil;Canada;Germany;Italy;Netherlands;United Kingdom
828NCT00074984
(ClinicalTrials.gov)
February 200124/12/2003A Study of the Safety and Efficacy of Fabrazyme (Agalsidase Beta) as Compared to Placebo in Patients With Advanced Fabry DiseaseMulti-Center, Randomized, Double-Blind, Placebo-Controlled Study of the Safety and Efficacy of Fabrazyme on Progression of Renal Disease and Significant Clinical Events in Patients With Fabry DiseaseFabry DiseaseBiological: Fabrazyme (agalsidase beta);Biological: PlaceboGenzyme, a Sanofi CompanyNULLCompleted16 YearsN/AAll82Phase 4United States;Canada;Czech Republic;Hungary;Poland;United Kingdom
829NCT00028262
(ClinicalTrials.gov)
February 200117/12/2001Cystagon to Treat Infantile Neuronal Ceroid LipofuscinosisA Combination Therapy With Cystagon and N-Acetylcysteine for INCL PatientsInfantile Neronal Ceroid LipofuscinosisDrug: CystagonEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)NULLCompleted6 Months3 YearsAll10Phase 4United States
830NCT00912925
(ClinicalTrials.gov)
December 20002/6/2009Clinical Study of Aldurazyme in Patients With Mucopolysaccharidosis (MPS) IA Randomized, Double-Blind, Placebo-Controlled, Multicenter, Multinational, Clinical Study of Recombinant Human Alpha L-Iduronidase In Patients With Mucopolysaccharidosis IMucopolysaccharidosis I;Hurlers Syndrome;Hurler-Scheie SyndromeBiological: rhIDU (recombinant human-Alpha-L-Iduronidase);Biological: PlaceboGenzyme, a Sanofi CompanyBioMarin/Genzyme LLCCompleted5 YearsN/AAll45Phase 3United States;Canada;Germany
831NCT00048620
(ClinicalTrials.gov)
September 20004/11/2002Study of Recombinant Human N-Acetylgalactosamine 4-Sulfatase in Patients With MPS VIDouble-Blind,2 Dose Group Study of Recombinant Human N-Acetylgalactosamine 4-Sulfatase in Patients With MPS VIMucopolysaccharidosis VIDrug: N-acetylgalactosamine 4-sulfataseBioMarin PharmaceuticalNULLCompletedN/AN/ABothPhase 1United States
832NCT00010426
(ClinicalTrials.gov)
December 19992/2/2001Randomized Study of New Formulation Ophthalmic Cysteamine Hydrochloride for Corneal Cystine Accumulation in Patients With CystinosisCystinosisDrug: cysteamine hydrochlorideFDA Office of Orphan Products DevelopmentSigma Tau Pharmaceuticals, Inc.Completed1 Year50 YearsBoth30N/ANULL
833NCT00004294
(ClinicalTrials.gov)
November 199918/10/1999Phase I Study of Retrovirally Mediated Transfer of the Human Glucocerebrosidase Gene Into Peripheral Blood Stem Cells for Autologous Transplantation in Patients With Type I Gaucher DiseaseGaucher's DiseaseGenetic: human glucocerebrosidase gene into autologous peripheral blood stem cellsNational Center for Research Resources (NCRR)National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK);University of PittsburghCompleted18 Years65 YearsBoth15Phase 1United States
834NCT00004293
(ClinicalTrials.gov)
November 199918/10/1999Phase II Study of Glucocerebrosidase in Patients With Gaucher DiseaseGaucher's DiseaseDrug: glucocerebrosidaseNational Center for Research Resources (NCRR)University of PittsburghRecruiting18 Years65 YearsBoth24Phase 2United States
835NCT00074971
(ClinicalTrials.gov)
October 199924/12/2003A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry DiseaseA Multi-center, Open-Label Extension Study of the Safety and Efficacy of Recombinant Human a-Galactosidase A (r-haGAL) Replacement in Patients With Fabry DiseaseFabry DiseaseDrug: Fabrazyme (agalsidase beta)Genzyme, a Sanofi CompanyNULLCompleted16 YearsN/ABoth58Phase 3United States;France;Netherlands;Puerto Rico;United Kingdom
836NCT00176917
(ClinicalTrials.gov)
May 199912/9/2005Stem Cell Transplantation for HurlerHematopoietic Stem Cell Transplantation for Hurler Syndrome, Maroteaux Lamy Syndrome (MPS VI), and Alpha Mannosidase Deficiency (Mannosidosis)Mucopolysaccharidosis I;Mucopolysaccharidosis VI;Mannosidosis;Mucolipidosis Type II (I-cell Disease)Procedure: Stem Cell Transplant;Drug: Busulfan, Cyclophosphamide, ATGMasonic Cancer Center, University of MinnesotaNULLCompletedN/AN/AAll41Phase 2United States
837NCT00004488
(ClinicalTrials.gov)
October 199818/10/1999Phase II Randomized Study of Alendronate Sodium for Osteopenia in Patients With Gaucher's DiseaseGaucher's Disease;OsteopeniaDrug: alendronate sodium;Drug: calcium carbonate;Drug: cholecalciferolChildren's Hospital Medical Center, CincinnatiNULLCompleted18 Years50 YearsBoth82Phase 2United States;Israel
838NCT00001736
(ClinicalTrials.gov)
May 19983/11/1999New Cysteamine Eye Drops Formulation to Treat Corneal Crystals in CystinosisSafety and Efficacy Trial of a Proposed NDA Formulation of Topical Cysteamine in the Treatment of Corneal Cystine Crystal Accumulation in CystinosisCystinosisDrug: CysteamineNational Eye Institute (NEI)NULLCompletedN/AN/ABoth51Phase 1United States
839NCT00365131
(ClinicalTrials.gov)
December 199715/8/2006A Multicenter Study of the Efficacy of Cerezyme in Testing Skeletal Disease in Patients With Type I Gaucher Disease.Gaucher Disease Type I;Cerebroside Lipidosis Syndrome;Clucocerebrosidase Deficiency Disease;Glucosylceramide Beta-Glucosidase Deficiency Disease;Gaucher Disease, Non-Neuronopathic FormDrug: Cerezyme (imiglucerase for injection)Genzyme, a Sanofi CompanyNULLCompleted10 Years65 YearsBoth40Phase 4United States
840NCT00004454
(ClinicalTrials.gov)
October 199618/10/1999Phase I/II Study of Retroviral-Mediated Transfer of Iduronate-2-Sulfatase Gene Into Lymphocytes of Patients With Mucopolysaccharidosis II (Mild Hunter Syndrome)Mucopolysaccharidosis IIGenetic: lymphocyte gene therapyEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)University of Minnesota - Clinical and Translational Science InstituteCompleted18 YearsN/ABoth2Phase 1/Phase 2United States
841NCT00176904
(ClinicalTrials.gov)
January 199512/9/2005Stem Cell Transplant for Inborn Errors of MetabolismTreatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow TransplantationAdrenoleukodystrophy;Metachromatic Leukodystrophy;Globoid Cell Leukodystrophy;Gaucher's Disease;Fucosidosis;Wolman Disease;Niemann-Pick Disease;Batten Disease;GM1 Gangliosidosis;Tay Sachs Disease;Sandhoff DiseaseProcedure: Stem Cell Transplant;Drug: Busulfan, Cyclophosphamide, Antithymocyte GlobulinMasonic Cancer Center, University of MinnesotaNULLCompletedN/AN/AAll135Phase 2/Phase 3United States
842NCT00001416
(ClinicalTrials.gov)
December 19933/11/1999Bone Response to Enzyme Replacement in Gaucher's DiseaseSkeletal Responses to Macrophage-Targeted Glucocerebrosidase in Patients With Type 1 Gaucher's DiseaseGaucher's DiseaseDrug: CEREDASENational Institute of Neurological Disorders and Stroke (NINDS)NULLCompletedN/AN/ABoth100Phase 2United States
843NCT00001410
(ClinicalTrials.gov)
October 19933/11/1999PEG-Glucocerebrosidase for the Treatment of Gaucher DiseaseA Phase I and II Study of PEG-Glucocerebrosidase in Patients With Type 1 or Type 3 Gaucher DiseaseGaucher's DiseaseDrug: LysodaseNational Institute of Mental Health (NIMH)NULLCompletedN/AN/ABoth18Phase 1United States
844NCT00001234
(ClinicalTrials.gov)
January 19883/11/1999Gene Therapy for Gaucher's and Fabry Disease Using Viruses and Blood-Forming CellsRetroviral-Mediated Transfer and Expression of Glucocerebrosidase and Ceramidtrihexosidase (a-Galactosidase A) cDNA's in Human Hematopoietic Progenitor CellsGaucher's DiseaseGenetic: human glucocerebrosidase cDNANational Institute of Neurological Disorders and Stroke (NINDS)NULLCompletedN/AN/ABoth120Phase 1United States
845NCT00001213
(ClinicalTrials.gov)
April 19863/11/1999Cysteamine Eye Drops to Treat Corneal Crystals in CystinosisTrial of Topical Cysteamine in the Treatment of Corneal Cystine Crystal Accumulation in CystinosisCystinosisDrug: CysteamineNational Eye Institute (NEI)NULLCompleted2 YearsN/AAll328Phase 2United States
846NCT00359684
(ClinicalTrials.gov)
January 4, 19791/8/2006Use of Cysteamine in the Treatment of CystinosisUse of Cysteamine in the Treatment of CystinosisCystinosisDrug: CysteamineNational Human Genome Research Institute (NHGRI)NULLRecruiting1 WeekN/AAll330United States
847EUCTR2007-001163-30-Outside-EU/EEA
(EUCTR)
11/05/2015A trial of antigen-specific immune tolerance induction in mucopolysaccharidosis I (MPS I) patients initiating enzyme replacement therapy with Aldurazyme® (laronidase)A trial of antigen-specific immune tolerance induction in mucopolysaccharidosis I (MPS I) patients initiating enzyme replacement therapy with Aldurazyme® (laronidase) Mucopolysaccharidosis I
MedDRA version: 18.0;Level: PT;Classification code 10056886;Term: Mucopolysaccharidosis I;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Laronidase
INN or Proposed INN: LARONIDASE
Genzyme, a Sanofi CompanyNULLNAFemale: yes
Male: yes
12Brazil;Russian Federation
848EUCTR2021-005200-35-FR
(EUCTR)
20/05/2022Study to determine effectiveness and safety of DNL310 vs Idursulfase in Pediatric Participants With Neuronopathic or Non-Neuronopathic Hunter SyndromeA Phase 2/3, Multicenter, Double-Blind, Randomized Study to Determine the Efficacy and Safety of DNL310 vs Idursulfase in Pediatric Participants With Neuronopathic or Non-Neuronopathic Mucopolysaccharidosis Type II Mucopolysaccharidosis Type II [MPS II];Therapeutic area: Diseases [C] - Nervous System Diseases [C10]Product Name: DNL310
Product Code: DNL310
INN or Proposed INN: DNL310
Other descriptive name: IDURONATE-2-SULFATASE FUSED TO A FC POLYPEPTIDE THAT BINDS TO THE HUMAN TRANSFERRIN RECEPTOR
Trade Name: Idursulfase (Elaprase)
Product Name: idursulfase (ELAPRASE)
INN or Proposed INN: Idursulfase
Other descriptive name: Purified form of the lysosomal enzyme iduronate-2-sulfatase
Denali Therapeutics Inc.NULLNAFemale: yes
Male: yes
54Phase 2;Phase 3United States;Czechia;Spain;Turkey;Colombia;United Kingdom;Italy;France;Czech Republic;Mexico;Canada;Argentina;Belgium;Brazil;Australia;Netherlands;Germany;Sweden
849EUCTR2021-005356-10-CZ
(EUCTR)
15/07/2022A pivotal study of N-Acetyl-L-Leucine on Niemann-Pick disease type CEffects of N-Acetyl-L-Leucine on Niemann-Pick disease type C (NPC): A Phase III, randomized, placebo-controlled, double-blind, crossover study Niemann-Pick Disease type C (NPC)
MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: N-acetyl-L-leucine
Product Code: IB1001
INN or Proposed INN: N-Acetyl-L Leucine
Other descriptive name: 2(S)-(ACETYLAMINO)-4-METHYLPENTANOIC ACID
IntraBio LtdNULLNAFemale: yes
Male: yes
53Phase 3United States;Czechia;Czech Republic;Slovakia;Australia;Germany;Netherlands;United Kingdom;Switzerland
850EUCTR2014-003198-40-FR
(EUCTR)
25/06/2015Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of rhASM in Pediatric Patients <18 Years of Age with Acid Sphingomyelinase DeficiencyA Phase 1/2, Multi-Center, Open-Label, Ascending Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Exploratory Efficacy of Recombinant Human Acid Sphingomyelinase in Pediatric Patients Aged <18 Years With Acid Sphingomyelinase Deficiency Patients with acid sphingomyelinase deficiency (Niemann-Pick disease)
MedDRA version: 18.0;Level: LLT;Classification code 10041515;Term: Sphingomyelin lipidosis;System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: rhASM
Product Code: GZ402665
Other descriptive name: RECOMBINANT HUMAN ACID SPHINGOMYELINASE (rhASM)
Genzyme CorporationNULLNot Recruiting Female: yes
Male: yes
12 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noUnited States;France;Brazil;Chile;Germany;Italy;United Kingdom
851EUCTR2008-005826-35-Outside-EU/EEA
(EUCTR)
10/04/2012A Multicenter, Double-Blind, Extension Trial of Two Parallel Dose Groups of Plant Cell Expressed Recombinant Human Glucocerebrosidase (prGCD) in Patients With Gaucher DiseaseA Multicenter, Double-Blind, Extension Trial of Two Parallel Dose Groups of Plant Cell Expressed Recombinant Human Glucocerebrosidase (prGCD) in Patients With Gaucher Disease Gaucher disease
MedDRA version: 14.1;Level: PT;Classification code 10018048;Term: Gaucher's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Taliglucerase alfa - Recombinant human glucocerebrosidase
Product Code: prGCD
Other descriptive name: TALIGLUCERASE ALFA
Protalix BiotherapeuticsNULLNAFemale: yes
Male: yes
30Australia;Canada;Chile;Israel;South Africa;Spain;United Kingdom;United States
852EUCTR2019-004949-32-FR
(EUCTR)
09/03/2020LYS-GM101 gene therapy trial in patients with GM1 gangliosidosisAn open-label adaptive-design study of intracisternal administration of adeno-associated viral vector serotype rh.10 carrying the human ß-galactosidase cDNA for the treatment of GM1 gangliosidosis GM1 gangliosidosis
MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: LYS-GM101
Product Code: LYS-GM101
INN or Proposed INN: adeno-associated virus (AAV) serotype rh.10 expressing human betagalactosidase (AAVrh.10-CAG-ßgal)
Other descriptive name: Adeno-associated virus serotype rh.10 expressing beta-galactosidase
LysogeneNULLNAFemale: yes
Male: yes
18Phase 1;Phase 2United States;France;United Kingdom
853EUCTR2015-001875-32-Outside-EU/EEA
(EUCTR)
12/11/2015A long-term safety and efficacy study in MPS 7 patients receiving enzyme (UX003) replacement by intravenous injectionA Long-Term Open-Label Treatment and Extension Study of UX003 rhGUS Enzyme Replacement Therapy in Subjects with MPS 7 Mucopolysaccharidosis type 7 (MPS 7, Sly syndrome);Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]Product Name: Recombinant human beta-glucuronidase
Product Code: UX003
INN or Proposed INN: pending
Other descriptive name: RECOMBINANT HUMAN BETA GLUCURONIDASE; RHGUS
Ultragenyx Pharmaceutical Inc.NULLNAFemale: yes
Male: yes
12United States
854EUCTR2013-000321-31-PL
(EUCTR)
21/02/2018A long-term safety trial of repeated Velmanase Alfa treatment of subjects with Alpha-MannosidosisA multi-center, un-controlled, open-labeled trial of the long-term safety of Velmanase Alfa aftercaretreatment of subjects with alpha-Mannosidosis whom previously participated in Velmanase Alfa - trials - Phase IIIb Treatement of Alpha-Mannosidosis
MedDRA version: 20.0;Level: LLT;Classification code 10032658;Term: Other specified disorders of carbohydrate transport and metabolism;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Velmanase Alfa
Product Code: rhLAMAN
INN or Proposed INN: velmanase alfa
Other descriptive name: recombinant human alpha-mannosidase
Chiesi Farmaceutici S.p.A.NULLNot RecruitingFemale: yes
Male: yes
5Phase 3Poland;Denmark
855EUCTR2014-001411-39-FR
(EUCTR)
29/10/2018Gene transfer clinical trial for Mucopolysaccharidosis IIIBPhase I/II gene transfer clinical trial of rAAV9.CMV.hNAGLU for Mucopolysaccharidosis (MPS) IIIB MPS IIIB is a devastating lysosomal storage disease, caused by a N-a-acetylglucosaminidase (NAGLU) gene defect. Infants with MPS IIIB appear normal at birth, but the disease is relentlessly progressive, with deterioration of social and adaptive abilities, neurocognitive decline, and premature death. Death typically occurs by end of the second or beginning of the third decade. Quite importantly, there is no treatment currently available for the disease.;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]Product Name: rAAV9.CMV.hNAGLU
Product Code: ABO-101
INN or Proposed INN: rAAV9.CMV.hNAGLU
Other descriptive name: rAAV9.CMV.hNAGLU
Abeona Therapeutics Europe SL.NULLNot RecruitingFemale: yes
Male: yes
9Phase 1;Phase 2United States;France;Spain;Netherlands;Germany;United Kingdom;Italy
856EUCTR2010-020198-18-NL
(EUCTR)
31/01/2011A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multinational Clinical Study to Evaluate the Efficacy and Safety of 2.0 mg/kg/week and 2.0 mg/kg/every other week BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome)A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multinational Clinical Study to Evaluate the Efficacy and Safety of 2.0 mg/kg/week and 2.0 mg/kg/every other week BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome) Mucopolysaccharidosis Type IVA
MedDRA version: 12.1;Level: LLT;Classification code 10028095;Term: Mucopolysaccharidosis IV
MedDRA version: 12.1;Level: PT;Term: Mucopolysaccharidosis IV
Product Name: BMN 110
Product Code: N/A
INN or Proposed INN: N/A
Other descriptive name: recombinant human N-acetylgalactosamine-6-sulfatase, BMN 110 drug substance
BioMarin Pharmaceutical IncNULLNot RecruitingFemale: yes
Male: yes
162Phase 3Portugal;France;Denmark;Norway;Germany;Netherlands;Italy;United Kingdom
857EUCTR2009-013459-31-DE
(EUCTR)
03/11/2009A DOUBLE-BLIND, RANDOMIZED, PLACEBO-CONTROLLED STUDY TO EVALUATE THE EFFICACY, SAFETY AND PHARMACODYNAMICS OF AT1001 IN PATIENTS WITH FABRY DISEASE AND AT1001-RESPONSIVE GLA MUTATIONS - Study of the Effects of Oral AT1001 in Patients with Fabry DiseaseA DOUBLE-BLIND, RANDOMIZED, PLACEBO-CONTROLLED STUDY TO EVALUATE THE EFFICACY, SAFETY AND PHARMACODYNAMICS OF AT1001 IN PATIENTS WITH FABRY DISEASE AND AT1001-RESPONSIVE GLA MUTATIONS - Study of the Effects of Oral AT1001 in Patients with Fabry Disease Fabry Disease
MedDRA version: 12.0;Level: LLT;Classification code 10016016;Term: Fabry's disease
Product Name: migalastat hydrochloride
Product Code: AT1001
INN or Proposed INN: migalastat hydrochloride
Other descriptive name: 1-deoxygalactonojirimycin hydrochloride
Product Name: Reminder Product
INN or Proposed INN: Not applicable
Amicus Therapeutics, Inc.NULLNot RecruitingFemale: yes
Male: yes
60France;Spain;Belgium;Denmark;Netherlands;Germany;Italy;United Kingdom
858EUCTR2011-002750-31-PL
(EUCTR)
03/04/2013A study of SBC-102 (enzyme replacement therapy) in patients with lysosomal acid lipase deficiencyA multicenter, randomized, placebo-controlled study of SBC-102 in patients with lysosomal acid lipase deficiency - ARISE (Acid Lipase Replacement Investigating Safety and Efficacy) Lysosomal Acid Lipase Deficiency
MedDRA version: 20.0;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Trade Name: KANUMA
Product Name: sebelipase alfa
Product Code: SBC-102
INN or Proposed INN: NA
Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Alexion Pharmaceuticals, Inc.NULLNot RecruitingFemale: yes
Male: yes
55Phase 3United States;Taiwan;Greece;Spain;Ukraine;Russian Federation;Chile;Israel;Italy;France;Cyprus;Australia;Denmark;South Africa;Netherlands;Turkey;United Kingdom;Czech Republic;Mexico;Argentina;Brazil;Belgium;Poland;Romania;Croatia;Germany;Japan;Sweden
859EUCTR2019-000064-21-NO
(EUCTR)
15/08/2019To assess the glycosphingolipid clearance and clinical benefits of agalsidase beta in male patients with classic Fabry disease switching from agalsidase alfaA randomized, open-label, active comparator, 2-arm, prospective study to assess the glycosphingolipid clearance and clinical benefits of agalsidase beta (Fabrazyme®) in male patients with classic Fabry disease switching from agalsidase alfa (Replagal®) Fabry's disease
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Trade Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Trade Name: Replagal
INN or Proposed INN: AGALSIDASE ALFA
Sanofi Aventis Groupe (SAG)NULLNot RecruitingFemale: no
Male: yes
35Phase 4France;Czech Republic;Canada;Spain;Turkey;Denmark;Austria;Germany;Norway;Italy;United Kingdom
860EUCTR2013-002885-38-FR
(EUCTR)
02/05/2016Peadiatric study of Idursulfase-IT with Elaprase® in patients with Hunter Syndrome and early cognitive impairmentA Controlled,Randomized,Two-arm,Open-label,Assessor-blinded,Multicenter Study of Intrathecal Idursulfase-IT Administered in Conjunction with Elaprase® in Pediatric Patients with Hunter Syndrome and Early Cognitive Impairment. Long-term treatment of Hunter syndrome and cognitive impairment
MedDRA version: 19.0;Level: PT;Classification code 10056889;Term: Mucopolysaccharidosis II;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Idursulfase-IT
Product Code: HGT-2310
INN or Proposed INN: IDURSULFASE
Other descriptive name: idursulfase-IT
Shire HGT IncNULLNot RecruitingFemale: no
Male: yes
54Phase 2;Phase 3United States;France;Mexico;Argentina;Spain;Australia;Germany;United Kingdom
861EUCTR2015-000697-35-Outside-EU/EEA
(EUCTR)
24/04/2015A Study Evaluating Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase BetaEvaluation of Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase Beta (The INFORM Study) - The INFORM Study Fabry Disease
MedDRA version: 18.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Agalsidase beta
INN or Proposed INN: AGALSIDASE BETA
Other descriptive name: AGALSIDASE BETA
Genzyme, a Sanofi CompanyNULLNAFemale: no
Male: yes
15United States
862EUCTR2015-000585-61-Outside-EU/EEA
(EUCTR)
18/05/2015A Study Investigating the Relationship Between the Development of Laronidase Antibody and Urinary GAG (Glycosaminoglycan) Levels in Aldurazyme® Treated PatientsA Multicenter, Multinational, Open-Label Study of Anti-Laronidase Antibody Formation and Urinary GAG Levels in Patients with Mucopolysaccaridosis I (MPS I) Being Treated with Aldurazyme® (laronidase) Mucopolysaccharidosis IHurler's SyndromeHurler-Scheie SyndromeScheie's Syndrome
MedDRA version: 18.0;Level: PT;Classification code 10056886;Term: Mucopolysaccharidosis I;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Laronidase
INN or Proposed INN: LARONIDASE
Genzyme, a Sanofi CompanyNULLNAFemale: yes
Male: yes
6United States
863EUCTR2011-002880-42-FR
(EUCTR)
19/09/2011A research study to look at the safety, effectiveness and the long-term effects on the body of a new drug, SBC-102, in children with growth problems caused by a deficiency in the enzyme that breaks down fats who were previously treated with SBC-102An Open Label Multicenter Extension Study to Evaluate the Long-Term Efficacy and Safety of SBC 102 in Children with Lysosomal Acid Lipase Deficiency Who Previously Received Treatment with SBC-102 - SBC-102 in Children with Growth Failure Due to Lysosomal Acid Lipase Deficiency Growth failure in children due to lysosomal acid lipase deficiency (Wolman disease).
MedDRA version: 14.0;Level: SOC;Classification code 10027433;Term: Metabolism and nutrition disorders;System Organ Class: 10027433 - Metabolism and nutrition disorders
MedDRA version: 14.0;Level: HLGT;Classification code 10021605;Term: Inborn errors of metabolism;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: recombinant human lysosomal acid lipase (rhLAL)
Product Code: SBC-102
INN or Proposed INN: not available
Other descriptive name: recombinant human lysosomal acid lipase (rhLAL)
Synageva Biopharma Corp.NULLNAFemale: yes
Male: yes
6Phase 2United States;France;Germany;United Kingdom
864EUCTR2017-002158-35-FR
(EUCTR)
07/03/2018Study to investigate the fate of odiparcil since its administration up to the point is completely eliminated, its safety and efficacy in patients 16 years and above with mucopolysaccharidosis (MPS) type VIA phase IIa study to investigate safety, Pharmacokinetics, and efficacy of odiparcil in patients 16 years and above with mucopolysaccharidosis (MPS) type VI. - iMProveS Mucopolysaccharidosis (MPS) type VI.
MedDRA version: 20.1;Level: PT;Classification code 10028095;Term: Mucopolysaccharidosis IV;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Odiparcil
Product Code: IVA 336
INN or Proposed INN: Odiparcil
Inventiva S.A.NULLNot Recruiting Female: yes
Male: yes
24 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noPortugal;France;Germany;United Kingdom
865EUCTR2015-004438-93-PL
(EUCTR)
31/05/2016A clinical study to investigate the study drug Arimoclomol in a double blind, randomised, placebo-controlled study in patients diagnosed with Niemann Pick disease type C.Arimoclomol prospective double blind, randomised, placebo-controlled study in patients diagnosed with Niemann Pick disease type C - Investigate study drug Arimoclomol with patients diagnosed with Niemann Pick disease type C. Niemann Pick disease type C
MedDRA version: 20.0;Level: PT;Classification code 10029403;Term: Niemann-Pick disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Arimoclomol
Product Code: _
INN or Proposed INN: Arimoclomol
Other descriptive name: ARIMOCLOMOL CITRATE
Product Name: Arimoclomol
Product Code: _
INN or Proposed INN: Arimoclomol
Other descriptive name: ARIMOCLOMOL CITRATE
Product Name: Arimoclomol
Product Code: _
INN or Proposed INN: ARIMOCLOMOL
Other descriptive name: ARIMOCLOMOL CITRATE
Orphazyme A/SNULLNot RecruitingFemale: yes
Male: yes
57Phase 2;Phase 3United States;Spain;Poland;Denmark;Germany;United Kingdom;Italy;Switzerland
866EUCTR2019-000065-20-NO
(EUCTR)
31/10/2019To assess the glycosphingolipid clearance and clinical effects of switching to agalsidase beta (Fabrazyme®) versus continuing on migalastat (Galafold®) in male patients with classic Fabry diseaseA randomized, open-label, active comparator, 2-arm, prospective study to assess the glycosphingolipid clearance and clinical effects of switching to agalsidase beta (Fabrazyme®) versus continuing on migalastat (Galafold®) in male patients with classic Fabry disease - BCLEAR2 Fabry disease
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Trade Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Trade Name: Galafold
INN or Proposed INN: MIGALASTAT
Other descriptive name: Galafold
Sanofi Aventis Groupe (SAG)NULLNot RecruitingFemale: no
Male: yes
35Phase 4United States;France;Canada;Norway
867EUCTR2017-003083-13-DE
(EUCTR)
24/11/2017Phase 2 study to evaluate Long-Term Safety and Efficacy of AX 250 in Patients with MPS Type IIIBA Multicenter, Multinational, Extension Study to Evaluate the Long-Term Safety and Efficacy of Intracerebroventricular AX 250 in Patients with Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) Mucopolysaccharidosis Type IIIB (Sanfilippo Syndrome Type B, MPSIIIB)
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: N/A
Product Code: AX 250
INN or Proposed INN: Not available
Other descriptive name: RHNAGLU-IGF2
Allievex CorporationNULLNAFemale: yes
Male: yes
33Phase 2United States;Taiwan;Spain;Turkey;Colombia;Germany;United Kingdom
868EUCTR2013-003450-24-FR
(EUCTR)
29/09/2015Safety and Efficacy Study of HGT-1410 Administration in Pediatric Patients with Early Stage of Sanfilippo Syndrome Type AA Randomized, Controlled, Open-label, Multicenter, Phase IIb Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration via an Intrathecal Drug Delivery Device in Pediatric Patients with Early Stage Mucopolysaccharidosis Type III A Disease Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 18.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 18.0;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Recombinant human heparan N-sulfatase (rhHNS)
Product Code: HGT-1410
INN or Proposed INN: Not available
Other descriptive name: Recombinant human heparan N-sulfatase
Shire Human Genetic Therapies, IncNULLNAFemale: yes
Male: yes
18Phase 2United States;France;Argentina;Brazil;Spain;Netherlands;Germany;Italy;United Kingdom
869EUCTR2015-000104-26-Outside-EU/EEA
(EUCTR)
23/07/2015A safety and efficacy study in young MPS 7 patients (less than 5 years old) receiving enzyme (UX003) replacement by intravenous injectionAn Open-label Study of UX003 rhGUS Enzyme Replacement Therapy in MPS 7 Patients Less than 5 years old Mucopolysaccharidosis type 7 (MPS 7, Sly syndrome);Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]Product Name: Recombinant human betaglucuronidase
Product Code: UX003
INN or Proposed INN: pending
Other descriptive name: RECOMBINANT HUMAN BETA GLUCURONIDASE; RHGUS
Ultragenyx Pharmaceutical Inc.NULLNAFemale: yes
Male: yes
7United States
870EUCTR2019-002375-34-FR
(EUCTR)
19/12/2019A multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, and safety of venglustat in late-onset GM2A multicenter, multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, safety, and tolerability of venglustat in late-onset GM2 gangliosidosis (Tay-Sachs disease and Sandhoff disease) together with a separate basket for juvenile/adolescent late-onset GM2 gangliosidosis and ultra-rare diseases within the same and similar glucosylceramide-based sphingolipid pathway - AMETHIST Tay-Sachs disease Sandhoff disease
MedDRA version: 20.0;Level: PT;Classification code 10043147;Term: Tay-Sachs disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 21.1;Classification code 10081314;Term: Sandhoff disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Name: Venglustat
Product Code: GZ402671
INN or Proposed INN: Venglustat
Other descriptive name: Genz-682452-AU
Product Name: Venglustat
Product Code: GZ402671
INN or Proposed INN: Venglustat
Other descriptive name: Genz-682452-AU
Product Name: Venglustat
Product Code: GZ402671
INN or Proposed INN: Venglustat
Other descriptive name: Genz-682452-AU
Genzyme CorporationNULLNA Female: yes
Male: yes
83 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): noFrance;Czech Republic;Argentina;Brazil;Germany;Japan;Portugal;United States;Spain;Turkey;Austria;Russian Federation;United Kingdom;Italy
871EUCTR2020-003120-17-SE
(EUCTR)
17/02/2021Venglustat in Combination with Cerezyme in Adult and Pediatric Patients with Gaucher Disease Type 3A 3-part study to evaluate the efficacy and safety of venglustat in combination with Cerezyme in adult and pediatric patients with Gaucher disease Type 3 (GD3) with open-label long-term treatment - LEAP2IT Gaucher disease type 3
MedDRA version: 20.0;Level: PT;Classification code 10075699;Term: Gaucher's disease type III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Venglustat
Product Code: GZ402671
INN or Proposed INN: Venglustat malate
Product Name: Venglustat
Product Code: GZ402671
INN or Proposed INN: Venglustat malate
Other descriptive name: Genz-682452-AU
Genzyme CorporationNULLNot RecruitingFemale: yes
Male: yes
12Phase 2;Phase 3United States;Taiwan;Turkey;Egypt;France;Hungary;Canada;Argentina;Brazil;Germany;China;Japan;Sweden
872EUCTR2011-000032-28-FR
(EUCTR)
11/04/2011A research study to look at the safety, effectiveness and the effects on the body of a new drug, SBC-102, in children with growth problems caused by a deficiency in the enzyme that breaks down fatsAn Open Label, Multicenter, Dose Escalation Study to Evaluate the Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of SBC-102 in Children with Growth Failure Due to Lysosomal Acid Lipase Deficiency - SBC-102 in Children with Growth Failure Due to Lysosomal Acid Lipase Deficiency Growth failure in children due to lysosomal acid lipase deficiency (Wolman disease).
MedDRA version: 13.1;Level: SOC;Classification code 10027433;Term: Metabolism and nutrition disorders;System Organ Class: 10027433 - Metabolism and nutrition disorders
MedDRA version: 13.1;Level: HLGT;Classification code 10021605;Term: Inborn errors of metabolism;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: recombinant human lysosomal acid lipase (rhLAL)
Product Code: SBC-102
INN or Proposed INN: not available
Other descriptive name: recombinant human lysosomal acid lipase (rhLAL)
Synageva Biopharma Corp.NULLNot RecruitingFemale: yes
Male: yes
8Phase 1;Phase 2United States;France;Ireland;Germany;Italy;United Kingdom
873EUCTR2019-000064-21-CZ
(EUCTR)
29/08/2019To assess the glycosphingolipid clearance and clinical benefits of agalsidase beta in male patients with classic Fabry disease switching from agalsidase alfaA randomized, open-label, active comparator, 2-arm, prospective study to assess the glycosphingolipid clearance and clinical effects of switching to agalsidase beta (Fabrazyme) versus continuing on agalsidase alfa (Replagal) in male patients with classic Fabry disease Fabry's disease
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Trade Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Trade Name: Replagal
INN or Proposed INN: AGALSIDASE ALFA
Sanofi Aventis Groupe (SAG)NULLNot RecruitingFemale: no
Male: yes
35Phase 4France;Czech Republic;Canada;Spain;Turkey;Denmark;Austria;Norway;Germany;Italy;United Kingdom
874EUCTR2022-002514-16-Outside-EU/EEA
(EUCTR)
29/07/2022A Clinical Study to evaluate the Safety and Efficacy of miglustat (Zavesca®) for the treatment of Niemann-Pick Disease Type C (NPC) in Chinese subjectsA single-arm uncontrolled 12-month Clinical Study to evaluate the Safety and Efficacy of miglustat (Zavesca®) for the Treatment of Niemann-Pick Disease Type C (NPC) in Chinese subjects Niemann-Pick Disease Type C (NPC)
MedDRA version: 20.0;Level: PT;Classification code 10029403;Term: Niemann-Pick disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Trade Name: Zavesca (Miglustat)
Product Name: Miglustat
INN or Proposed INN: Miglustat
Other descriptive name: Zavesca
Actelion Pharmaceuticals Trading (Shanghai) Co., LtdNULLNAFemale: yes
Male: yes
Phase 4China
875EUCTR2017-000146-21-DE
(EUCTR)
26/03/2019AN OPEN-LABEL STUDY OF THE SAFETY, PHARMACOKINETICS, PHARMACODYNAMICS, AND EFFICACY OF 12-MONTH TREATMENT WITH MIGALASTAT IN PEDIATRIC SUBJECTS (AGED 12 TO <18 YEARS) WITH FABRY DISEASE AND AMENABLE GLA VARIANTSAN OPEN-LABEL STUDY OF THE SAFETY, PHARMACOKINETICS, PHARMACODYNAMICS, AND EFFICACY OF 12-MONTH TREATMENT WITH MIGALASTAT IN PEDIATRIC SUBJECTS (AGED 12 TO <18 YEARS) WITH FABRY DISEASE AND AMENABLE GLA VARIANTS Fabry disease and with amenable GLA variants
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Trade Name: Galafold
Product Name: Migalastat
Product Code: AT1001
INN or Proposed INN: migalastat
Other descriptive name: MIGALASTAT HYDROCHLORIDE
Amicus Therapeutics, UK LtdNULLNAFemale: yes
Male: yes
20Phase 3United States;Spain;Australia;Germany;United Kingdom;Italy
876EUCTR2004-000642-21-IE
(EUCTR)
18/06/2004A Multicenter, Multinational, Open-Label Extension Study of Recombinant Human N-acetylgalactosamine 4-sulfatase (rhASB) in Patients with Mucopolysaccharidosis VI - Aryplase Phase 3 Open-Label ExtensionA Multicenter, Multinational, Open-Label Extension Study of Recombinant Human N-acetylgalactosamine 4-sulfatase (rhASB) in Patients with Mucopolysaccharidosis VI - Aryplase Phase 3 Open-Label Extension Mucopolysaccharidosis Type VI (MPS VI; Maroteaux-Lamy Syndrome)
MedDRA version: 6.0;Level: PT;Classification code 10056892
Product Name: recombinant human N-acetylgalactosamine 4-sulfatase
Product Code: N/A
BioMarin Pharmaceutical Inc.NULLNot Recruiting Female: yes
Male: yes
38 Human pharmacology (Phase 1): Therapeutic exploratory (Phase 2): Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4):Ireland
877EUCTR2019-002936-97-DE
(EUCTR)
08/01/2020A Long-term Follow-up Study of Patients with MPS IIIB from Gene Therapy Clinical Trials Involving the Administration of ABO-101 (rAAV9.CMV.hNAGLU)A Long-term Follow-up Study of Patients with MPS IIIB from Gene Therapy Clinical Trials Involving the Administration of ABO-101 (rAAV9.CMV.hNAGLU) MPS IIIB is a devastating lysosomal storage disease, caused by a N-a-acetylglucosaminidase (NAGLU) gene defect. Infants with MPS IIIB appear normal at birth, but the disease is relentlessly progressive, with deterioration of social and adaptive abilities, neurocognitive decline, and premature death. Death typically occurs by end of the second or beginning of the third decade. Quite importantly, there is no treatment currently available for the disease.
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: rAAV9.CMV.hNAGLU
Product Code: ABO-101
INN or Proposed INN: rAAV9.CMV.hNAGLU
Other descriptive name: Adeno-associated viral vector serotype 9 containing the human N-acetyl-alpha-glucosaminidase gene
Abeona Therapeutics Europe SL.NULLNot RecruitingFemale: yes
Male: yes
24Phase 1;Phase 2United States;France;Spain;Germany
878EUCTR2010-019962-10-FR
(EUCTR)
19/11/2010AN OPEN-LABEL, SINGLE ARM, MONOCENTRIC, PHASE I/II CLINICAL STUDY OF INTRACEREBRAL ADMINISTRATION OF ADENO-ASSOCIATED VIRAL VECTORS SEROTYPE 10 CARRYING THE HUMAN SGSH AND SUMF1 cDNAS FOR THE TREATMENT OF SANFILIPPO TYPE A SYNDROME - Intracerebral Gene therapy for Sanfilippo type A syndromeAN OPEN-LABEL, SINGLE ARM, MONOCENTRIC, PHASE I/II CLINICAL STUDY OF INTRACEREBRAL ADMINISTRATION OF ADENO-ASSOCIATED VIRAL VECTORS SEROTYPE 10 CARRYING THE HUMAN SGSH AND SUMF1 cDNAS FOR THE TREATMENT OF SANFILIPPO TYPE A SYNDROME - Intracerebral Gene therapy for Sanfilippo type A syndrome Sanfilippo type A syndrome (also named Mucopolysaccharidosis Type A)
MedDRA version: 12.1;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome
Product Name: AAVrh.10-hMPSIIIA
Product Code: SAF-301
SANFILIPPO Therapeutics SASNULLNot RecruitingFemale: yes
Male: yes
4Phase 1/2France
879EUCTR2011-002750-31-FR
(EUCTR)
12/11/2018A study of SBC-102 (enzyme replacement therapy) in patients with lysosomal acid lipase deficiencyA multicenter, randomized, placebo-controlled study of SBC-102 in patients with lysosomal acid lipase deficiency - ARISE (Acid Lipase Replacement Investigating Safety and Efficacy) Lysosomal Acid Lipase Deficiency
MedDRA version: 20.0;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: sebelipase alfa
Product Code: SBC-102
INN or Proposed INN: NA
Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Synageva BioPharma CorporationNULLNot RecruitingFemale: yes
Male: yes
55Phase 3Taiwan;Greece;Spain;Ukraine;Russian Federation;Chile;Israel;Italy;France;Cyprus;Australia;Denmark;South Africa;Netherlands;Turkey;United Kingdom;Czech Republic;Mexico;Argentina;Brazil;Belgium;Poland;Croatia;Romania;Germany;Sweden
880EUCTR2018-002984-24-FR
(EUCTR)
19/08/2019Open-label, Single-arm, Multicenter Study to Assess the Safety of Cystadrops® in Pediatric Cystinosis Patients from 6 Months to Less Than 2 Years OldStudy to Assess the Safety of Cystadrops® in Pediatric Cystinosis Patients from 6 Months to Less Than 2 Years Old - SCOB2 (Study Cystadrops® Ophthalmic for Patients Below 2 years) Nephropatic Cystinosis patients with corneal cystine crystal deposits
MedDRA version: 20.0;Level: LLT;Classification code 10071112;Term: Nephropathic cystinosis;System Organ Class: 100000004850 ;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03]
Trade Name: Cystadrops
Product Name: Cystadrops
Recordati Rare DiseasesNULLNA Female: yes
Male: yes
5 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): noFrance;United Kingdom
881EUCTR2014-005638-71-Outside-EU/EEA
(EUCTR)
22/12/2014An efficacy and safety study in MPS 7 patients receiving enzyme (UX003) replacement by intravenous injectionA Randomized, Placebo-Controlled, Blind-Start, Single-Crossover Phase 3 Study to Assess the Efficacy and Safety of UX003 rhGUS Enzyme Replacement Therapy in Patients with MPS 7 Mucopolysaccharidosis type 7 (MPS 7, Sly syndrome);Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]Product Name: Recombinant human beta-glucuronidase
Product Code: UX003
INN or Proposed INN: Not available
Other descriptive name: RECOMBINANT HUMAN BETA GLUCURONIDASE; RHGUS
Ultragenyx Pharmaceutical Inc.NULLNAFemale: yes
Male: yes
12Phase 3United States
882EUCTR2021-005200-35-DE
(EUCTR)
27/04/2022Study to determine effectiveness and safety of DNL310 vs Idursulfase in Pediatric Participants With Neuronopathic or Non-Neuronopathic Hunter SyndromeA Phase 2/3, Multicenter, Double-Blind, Randomized Study to Determine the Efficacy and Safety of DNL310 vs Idursulfase in Pediatric Participants With Neuronopathic or Non-Neuronopathic Mucopolysaccharidosis Type II Mucopolysaccharidosis Type II [MPS II];Therapeutic area: Diseases [C] - Nervous System Diseases [C10]Product Name: DNL310
Product Code: DNL310
INN or Proposed INN: DNL310
Other descriptive name: IDURONATE-2-SULFATASE FUSED TO A FC POLYPEPTIDE THAT BINDS TO THE HUMAN TRANSFERRIN RECEPTOR
Trade Name: Idursulfase (Elaprase)
Product Name: idursulfase (ELAPRASE)
INN or Proposed INN: Idursulfase
Other descriptive name: Purified form of the lysosomal enzyme iduronate-2-sulfatase
Denali Therapeutics Inc.NULLNAFemale: yes
Male: yes
54Phase 2;Phase 3United States;Czechia;Spain;Turkey;Colombia;United Kingdom;Italy;France;Czech Republic;Mexico;Canada;Argentina;Brazil;Belgium;Australia;Netherlands;Germany;Sweden
883EUCTR2006-006304-11-DE
(EUCTR)
02/11/2007A multicenter open-label study of Gene-Activated Human Glucocerebrosidase (GA-GCB) enzyme replacement therapy in patients with type 1 Gaucher disease previously treated wiht imiglucerase. - TKT034A multicenter open-label study of Gene-Activated Human Glucocerebrosidase (GA-GCB) enzyme replacement therapy in patients with type 1 Gaucher disease previously treated wiht imiglucerase. - TKT034 Type I Gaucher Disease
MedDRA version: 9.1;Level: LLT;Classification code 10018048;Term: Gaucher's disease
Product Name: Gene-Activated Human Glucocerebrosidase
Product Code: GA-GCB
INN or Proposed INN: velaglucerase alfa
Other descriptive name: Gene activated human glucocerebrosidase
Shire Human Genetic Therapies IncNULLNot RecruitingFemale: yes
Male: yes
40Phase 2;Phase 3Spain;Germany;Italy;United Kingdom
884EUCTR2013-000051-40-BE
(EUCTR)
14/08/2019A Long-Term Study of Recombinant Human Acid Sphingomyelinase in Patients With Acid Sphingomyelinase Deficiency A Long-Term Study to Assess the Ongoing Safety and Efficacy of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Patients with acid sphingomyelinase deficiency (Niemann-Pick Type B disease)
MedDRA version: 20.1;Level: LLT;Classification code 10041515;Term: Sphingomyelin lipidosis;System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Olipudase alfa (rhASM)
Product Code: GZ402665
INN or Proposed INN: Olipudase alfa
Other descriptive name: RECOMBINANT HUMAN ACID SPHINGOMYELINASE (rhASM)
Genzyme CorporationNULLNA Female: yes
Male: yes
25 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noFrance;United States;Brazil;Belgium;Germany;Italy;United Kingdom
885EUCTR2012-003427-38-Outside-EU/EEA
(EUCTR)
07/04/2016Efficacy and Safety Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher DiseaseA Multi-center, Open-label, Efficacy and Safety Study of Velaglucerase Alfa Enzyme Replacement Therapy in Children and Adolescents With Type 3 Gaucher Disease Type 3 Gaucher disease
MedDRA version: 18.1;Level: PT;Classification code 10075697;Term: Gaucher's disease type I;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Trade Name: VPRIV
Product Name: Gene-Activated Human Glucocerebrosidase 400U/vial
Product Code: GA-GCB
INN or Proposed INN: velaglucerase alfa
Other descriptive name: VELAGLUCERASE ALFA
Shire Human Genetic TherapiesNULLNAFemale: yes
Male: yes
6Tunisia;Egypt;India
886EUCTR2014-004143-13-FR
(EUCTR)
16/03/2017An extension peadiatric study of Idursulfase-IT with Elaprase® in patients with Hunter Syndrome and early cognitive impairmentAn Open Label Extension of Study HGT-HIT-094 Evaluating Long Term Safety and Clinical Outcomes of Intrathecal Idursulfase Administered in Conjunction with Elaprase® in Patients with Hunter Syndrome and Cognitive Impairment Hunter syndrome and cognitive impairment
MedDRA version: 19.1;Level: PT;Classification code 10056889;Term: Mucopolysaccharidosis II;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 19.1;Level: LLT;Classification code 10056917;Term: Hunter's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Idursulfase-IT
Product Code: HGT-2310
INN or Proposed INN: IDURSULFASE
Other descriptive name: idursulfase-IT
Shire Human Genetic Therapies, Inc.NULLNAFemale: no
Male: yes
54Phase 2;Phase 3United States;France;Mexico;Canada;Argentina;Spain;Australia;Colombia;United Kingdom
887EUCTR2010-020198-18-FR
(EUCTR)
01/02/2011A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multinational Clinical Study to Evaluate the Efficacy and Safety of 2.0 mg/kg/week and 2.0 mg/kg/every other week BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome)A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multinational Clinical Study to Evaluate the Efficacy and Safety of 2.0 mg/kg/week and 2.0 mg/kg/every other week BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome) Mucopolysaccharidosis Type IVA
MedDRA version: 12.1;Level: LLT;Classification code 10028095;Term: Mucopolysaccharidosis IV
MedDRA version: 12.1;Level: PT;Term: Mucopolysaccharidosis IV
Product Name: BMN 110
Product Code: N/A
INN or Proposed INN: N/A
Other descriptive name: recombinant human N-acetylgalactosamine-6-sulfatase, BMN 110 drug substance
BioMarin Pharmaceutical IncNULLNAFemale: yes
Male: yes
162Phase 3Portugal;France;Denmark;Norway;Germany;Netherlands;Italy;United Kingdom
888EUCTR2007-006044-22-PL
(EUCTR)
21/04/2008A Multi-Center, Open-Label Study Evaluating Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase Enzyme Replacement Therapy - not availableA Multi-Center, Open-Label Study Evaluating Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase Enzyme Replacement Therapy - not available Mucopolysaccharidosis Type II (MPS II or Hunter Syndrome)
MedDRA version: 10.1;Level: PT;Classification code 10056889;Term:
Trade Name: Elaprase 2mg/ml
Product Name: Idursulfase (I2S)
Product Code: I2S
INN or Proposed INN: Idursulfase
Other descriptive name: Idursulfase
Shire Human Genetic Therapies, Inc. (Shire HGT)NULLNot RecruitingFemale: no
Male: yes
30Phase 4Poland
889EUCTR2011-000212-25-Outside-EU/EEA
(EUCTR)
19/02/2014An extension to the safety, tolerability and preliminary efficacy study of Idursulfase-IT in patients with Hunter syndrome associated with learning disabilityAn Open-Label Extension of Study HGT-HIT-045 Evaluating Long-Term Safety and Clinical Outcomes of Intrathecal Idursulfase-IT Administered in Conjunction with Intravenous Elaprase® in Pediatric Patients with Hunter Syndrome and Cognitive Impairment Treatment of Hunter syndrome and cognitive impairment
MedDRA version: 16.1;Level: PT;Classification code 10056889;Term: Mucopolysaccharidosis II;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Idursulfase(I2S)-IT
Product Code: I2S-IT
INN or Proposed INN: IDURSULFASE
Other descriptive name: idursulfase-IT
Shire HGT IncNULLNAFemale: no
Male: yes
15Canada;United States
890EUCTR2014-003960-20-FR
(EUCTR)
25/06/2015An Extension Study to Evaluate the Safety and Efficacy of HGT-1410 Administration in Pediatric Patients with Sanfilippo Syndrome Type A A Open-Label Extension of Study HGT-SAN-093 Evaluating the Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration via an Intrathecal Drug Delivery Device in Pediatric Patients with Mucopolysaccharidosis Type IIIA Disease Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 18.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 18.0;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Recombinant human heparan N-sulfatase (rhHNS)
Product Code: HGT-1410
INN or Proposed INN: Not available
Other descriptive name: Recombinant human heparan N-sulfatase
Shire human Genetic Therapies, Inc.NULLNot Recruiting Female: yes
Male: yes
18 Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): noUnited States;France;Argentina;Spain;Netherlands;Germany;Italy;United Kingdom
891EUCTR2012-000856-33-FR
(EUCTR)
15/05/2014Intracerebral Gene therapy in children with Sanfilippo type B syndromeA phase I/II, open-label, study of intracerebral administration of adeno-associated viral vector containing the human alpha-N-acetylglucosaminidase cDNA in children with Sanfilippo type B syndrome Mucopolysaccharidosis III B
MedDRA version: 17.0;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: rAAV2/5-hNaGluInstitut PasteurNULLNAFemale: yes
Male: yes
Phase 1;Phase 2France
892EUCTR2008-005825-12-Outside-EU/EEA
(EUCTR)
10/04/2012A multi-centre, open-label, switchover trial to assess safety and efficacy of taliglucerase alfa in adult and paediatric patients with Gaucher disease who are currently being treated with imiglucerase enzyme replacement therapy (ERT).A multi-centre, open-label, switchover trial to assess safety and efficacy of taliglucerase alfa in adult and paediatric patients with Gaucher disease who are currently being treated with imiglucerase enzyme replacement therapy (ERT). Gaucher disease
MedDRA version: 14.1;Level: PT;Classification code 10018048;Term: Gaucher's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Taliglucerase alfa - Recombinant human glucocerebrosidase
Product Code: prGCD
Other descriptive name: TALIGLUCERASE ALFA
Protalix BiotherapeuticsNULLNAFemale: yes
Male: yes
30Canada;Israel;United Kingdom;United States
893EUCTR2017-002806-10-DE
(EUCTR)
01/10/2018An open, non-controlled, parallel, ascending multiple-dose, multicenter study to assess the safety, tolerability, pharmacokinetics and pharmacodynamics of SOBI003 in pediatric MPS IIIA patientsAn open, non-controlled, parallel, ascending multiple-dose, multicenter study to assess the safety, tolerability, pharmacokinetics and pharmacodynamics of SOBI003 in pediatric MPS IIIA patients Mucopolysaccharidosis Type IIIA or Sanfilippo Syndrome
MedDRA version: 20.1;Level: LLT;Classification code 10028094;Term: Mucopolysaccharidosis IH;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Chemically modified recombinant human sulfamidase
Product Code: SOBI003
Other descriptive name: CHEMICALLY MODIFIED RECOMBINANT HUMAN SULFAMIDASE
Swedish Orphan Biovitrum AB (publ)NULLNot RecruitingFemale: yes
Male: yes
9Phase 1United States;Turkey;Netherlands;Germany
894EUCTR2012-003775-20-FR
(EUCTR)
27/06/2013A safety and efficacy extension of study HGT-MLD-070 in Children with Metachromatic Leukodystrophy recieving enzyme (HGT-1110) replacement by intrathecal injectionAn Open-label Extension of Study HGT-MLD-070 Evaluating Long Term Safety and Efficacy of Intrathecal Administration of HGT-1110 in Patients with Metachromatic Leukodystrophy Treatment of Metachromatic Leukodystrophy
MedDRA version: 16.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Code: HGT-1110
INN or Proposed INN: Not available
Other descriptive name: Recombinant Human Arylsulfatase A (rhASA)
Shire Human Genetics Therapies IncNULLNAFemale: yes
Male: yes
18Phase 1;Phase 2France;Czech Republic;Argentina;Brazil;Denmark;Australia;Germany;United Kingdom
895EUCTR2010-018365-34-FR
(EUCTR)
18/06/2010A Long-Term, Open-Label, Safety and Efficacy Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Patients with Nephropathic Cystinosis - RP103-04A Long-Term, Open-Label, Safety and Efficacy Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Patients with Nephropathic Cystinosis - RP103-04 Cystinosis
MedDRA version: 12.1;Level: LLT;Classification code 10011777;Term: Cystinosis
Product Name: Cysteamine bitartrate (INN: mercaptamine bitartrate )
Product Code: RP103
INN or Proposed INN: mercaptamine bitartrate
Raptor Therapeutics Inc.NULLNAFemale: yes
Male: yes
20Phase 3France;Netherlands
896EUCTR2021-005402-10-FR
(EUCTR)
27/01/2022Study to evaluate the efficacy and safety of venglustat in adult and pediatric patients with Gaucher disease Type 3A phase 3, multicenter, multinational, randomized, double-blind, double-dummy, active-comparator study to evaluate the efficacy and safety of venglustat in adult and pediatric patients with Gaucher disease Type 3 (GD3) who have reached therapeutic goals with Enzyme Replacement Therapy (ERT) - LEAP2MONO Gaucher's disease type III
MedDRA version: 24.1;Level: PT;Classification code 10075699;Term: Gaucher's disease type III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: venglustat
Product Code: SAR402671, GZ402671 or GZ / SAR402671
INN or Proposed INN: Venglustat malate
Other descriptive name: GZ/SAR402671
Product Name: venglustat
Product Code: SAR402671, GZ402671 or GZ / SAR402671
INN or Proposed INN: Venglustat malate
Other descriptive name: GZ/SAR402671
Trade Name: Cerezyme 400 Units Powder for concentrate for solution for infusion
INN or Proposed INN: Imiglucerase
Sanofi-aventis recherche & développementNULLNAFemale: yes
Male: yes
50Phase 3United States;Taiwan;Turkey;United Kingdom;France;Egypt;Hungary;Canada;Argentina;Brazil;Germany;China;Japan
897EUCTR2007-000498-42-Outside-EU/EEA
(EUCTR)
10/04/2012A double-blind, randomised efficacy and safety study of taliglucerase alfa enzyme replacement therapy in children and adolescents with Gaucher disease (non-neuronopathic and chronic neuronopathic)A double-blind, randomised efficacy and safety study of taliglucerase alfa enzyme replacement therapy in children and adolescents with Gaucher disease (non-neuronopathic and chronic neuronopathic) Gaucher disease
MedDRA version: 14.1;Level: PT;Classification code 10018048;Term: Gaucher's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Taliglucerase alfa - Recombinant human glucocerebrosidase
Product Code: prGCD
Other descriptive name: TALIGLUCERASE ALFA
Protalix BiotherapeuticsNULLNAFemale: yes
Male: yes
10Israel;United States
898EUCTR2021-002320-20-ES
(EUCTR)
19/11/2021A study to evaluate the effect of venglustat tablets on left ventricular mass index in male and female adult participants with Fabry diseaseA randomized, open-label, parallel-group, 18-month Phase 3 study to evaluate the effect of venglustat compared with usual standard of care on left ventricular mass index in participants with Fabry disease and left ventricular hypertrophy Fabry’s disease
MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Venglustat
Product Code: SAR402671, GZ402671 or GZ/SAR402671
INN or Proposed INN: Venglustat malate
Other descriptive name: GZ/SAR402671
Trade Name: Replagal
INN or Proposed INN: Agalsidase alfa
Trade Name: Fabrazyme
INN or Proposed INN: Agalsidase beta
Trade Name: Galafold
INN or Proposed INN: Migalastat
Other descriptive name: Migalastat
sanofi-aventis recherche et développementNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
110Phase 3United States;Czechia;Taiwan;Greece;Spain;Turkey;Austria;United Kingdom;Italy;France;Canada;Poland;Denmark;Norway;Netherlands;Germany;China;Japan;Korea, Republic of
899EUCTR2021-005200-35-NL
(EUCTR)
11/05/2022Study to determine effectiveness and safety of DNL310 vs Idursulfase in Pediatric Participants With Neuronopathic or Non-Neuronopathic Hunter SyndromeA Phase 2/3, Multicenter, Double-Blind, Randomized Study to Determine the Efficacy and Safety of DNL310 vs Idursulfase in Pediatric Participants With Neuronopathic or Non-Neuronopathic Mucopolysaccharidosis Type II Mucopolysaccharidosis Type II [MPS II];Therapeutic area: Diseases [C] - Nervous System Diseases [C10]Product Name: DNL310
Product Code: DNL310
INN or Proposed INN: DNL310
Other descriptive name: IDURONATE-2-SULFATASE FUSED TO A FC POLYPEPTIDE THAT BINDS TO THE HUMAN TRANSFERRIN RECEPTOR
Trade Name: Idursulfase (Elaprase)
Product Name: idursulfase (ELAPRASE)
INN or Proposed INN: Idursulfase
Other descriptive name: Purified form of the lysosomal enzyme iduronate-2-sulfatase
Denali Therapeutics Inc.NULLNAFemale: yes
Male: yes
54Phase 2;Phase 3United States;Czechia;Spain;Turkey;Colombia;United Kingdom;Italy;France;Mexico;Canada;Argentina;Belgium;Brazil;Australia;Netherlands;Germany;Sweden