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 19. ライソゾーム病 [臨床試験数:399,薬物数:369(DrugBank:77),標的遺伝子数:42,標的パスウェイ数:44] 

Searched query = "Lysosomal storage disease", "Lysosomal disease", "Gaucher disease", "Niemann-Pick disease", "Niemann-Pick type C", "GM1-gangliosidosis", "GM1-gangliosidoses", "GM2-gangliosidosis", "GM2-gangliosidoses", "Tay-Sachs disease", "Sandhoff disease", "Krabbe disease", "Metachromatic leukodystrophy", "Multiple-sulfatase deficiency", "Farber disease", "Mucopolysaccharidosis type I", "Mucopolysaccharidosis I", "MPS I", "Hurler syndrome", "Scheie syndrome", "Mucopolysaccharidosis type II", "Mucopolysaccharidosis II", "MPS II", "Hunter syndrome", "Mucopolysaccharidosis type III", "Mucopolysaccharidosis III", "MPS III", "Sanfilippo syndrome", "Mucopolysaccharidosis type IV", "Mucopolysaccharidosis IV", "MPS IV", "MPS IVA", "Morquio syndrome", "Morquio A syndrome", "Mucopolysaccharidosis type VI", "Mucopolysaccharidosis VI", "MPS VI", "Maroteaux-Lamy syndrome", "Mucopolysaccharidosis type VII", "Mucopolysaccharidosis VII", "MPS VII", "Sly syndrome", "Mucopolysaccharidosis type IX", "Mucopolysaccharidosis IX", "MPS IX", "Hyaluronidase deficiency", "Sialidosis", "Galactosialidosis", "Mucolipidosis II", "Mucolipidosis type II", "I-cell disease", "Mucolipidosis III", "Mucolipidosis type III", "Alpha-Mannosidosis", "Alpha-Mannosidase Deficiency", "Beta-Mannosidosis", "Beta-Mannosidase Deficiency", "Fucosidosis", "Aspartylglucosaminuria", "Schindler disease", "Kanzaki disease", "Pompe disease", "Acid lipase deficiency", "Wolman disease", "Cholesterol ester storage disease", "Danon disease", "Free sialic acid storage disease", "Salla disease", "Ceroid lipofuscinosis", "Fabry disease", "Cystinosis"
The queries were searched in Public_title, Scientific_title, and Condition. Export date: 11/20/2019, 11/21/2019. Trials are sorted by Date_enrolment from most recent to oldest in the table.

Search in Page    e.g. "Phase 3", "Not recruiting", "Japan"    Synonyms (DrugBank) were also searched for.
No.TrialIDDate_
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1NCT04031066January 25, 202029 July 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.Not recruitingN/AN/AAll12Phase 3
2NCT03910621December 20, 201916 September 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: MiglustatActelionNot recruiting4 YearsN/AAll18Phase 4
3NCT04143958December 2, 20194 November 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 DiseaseDrug: agalsidase beta (GZ419828);Drug: agalsidase alfaSanofiNot recruiting16 Years45 YearsMale28Phase 4
4NCT04002830November 20, 201930 September 2019A Multicenter, Safety and Efficacy Study of Taliglucerase Alfa in Subjects With Type 3 Gaucher DiseaseA Multicenter, Safety and Efficacy Study of Taliglucerase Alfa in Subjects With Type 3 Gaucher DiseaseGaucher Disease, Type 3Drug: ElelysoAri ZimranPfizerNot recruitingN/AN/AAll15Phase 4India;Israel;Turkey
5NCT03887533November 13, 201911 November 2019Combined Intrathecal and Intravenous VTS-270 Therapy for Liver and Neurological Disease Associated With Niemann-Pick Disease, Type C1Combined Intrathecal and Intravenous VTS-270 Therapy for Liver and Neurological Disease Associated With Niemann-Pick Disease, Type C1Niemann-Pick Disease, Type C1Drug: VTS-270Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)Recruiting4 Years60 YearsAll30Phase 1/Phase 2United States
No.TrialIDDate_
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6NCT03687476November 201928 October 2019Safety 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 CompanyNot recruitingN/A4 YearsAll14Phase 2
7NCT03879655November 201928 October 2019Open-label Study of VTS-270 in Participants With Neurologic Manifestations of Niemann-Pick Type C1A Phase 2b/3 Open-label Trial of VTS-270 (2-hydroxypropyl-ß-cyclodextrin) in Subjects With Neurologic Manifestations of Niemann-Pick Type C1 Disease Previously Treated Under Protocol VTS301Niemann-Pick Disease, Type CDrug: VTS-270Vtesse, Inc., a Mallinckrodt Pharmaceuticals CompanyNot recruiting4 Years21 YearsAll7Phase 2/Phase 3
8NCT04125927November 201928 October 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 DiseasesNot recruiting6 Months2 YearsAll5Phase 3
9NCT04049760October 31, 201928 October 2019Safety, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged >12 Years) With Fabry DiseaseA 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 VariantsFabry DiseaseDrug: migalastat HCl 150 mgAmicus TherapeuticsNot recruiting12 Years17 YearsAll20Phase 3United States;Spain
10JPRN-JapicCTI-19497501/10/20195 November 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 patientsFabry 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 LtdNot Recruiting16BOTH20Phase 3Japan
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11NCT04088734October 20194 November 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-102Abeona Therapeutics, IncRecruitingN/AN/AAll12Phase 1/Phase 2United States;Australia;Spain
12NCT03228940September 30, 20198 April 2019Safety 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 CorpNot recruiting18 Years75 YearsAll16Phase 1/Phase 2Canada
13NCT04020055September 30, 201929 July 2019A Study to Evaluate Migalastat in Fabry Subjects With Amenable GLA Variants and Severe Renal ImpairmentAn Open-label Study to Evaluate the Safety and Pharmacokinetics of Migalastat HCl in Fabry Subjects With Amenable GLA Variants and Severe Renal ImpairmentFabry DiseaseDrug: migalastat HCl 150 mgAmicus TherapeuticsNot recruiting16 YearsN/AAll12Phase 3United States;Belgium;France;Italy;Spain;United Kingdom
14JPRN-jRCTs06119001726/09/20197 October 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-ACTNeuronopathic Gaucher diseaseAmbroxol will be given.Aya NaritaNot RecruitingNot applicableNot applicableBoth25Phase 3none
15NCT03759639September 4, 20194 November 2019N-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 IncRecruiting6 YearsN/AAll39Phase 2United States;Germany;Slovakia;Spain;United Kingdom
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16NCT04018755September 201929 July 2019Open-label Study of Anakinra in MPS IIIOpen-label Pilot Study of the Effects of Anakinra in Mucopolysaccharidosis (MPS) IIIMucopolysaccharidosis IIIBiological: anakinraLos Angeles Biomedical Research InstituteCure Sanfilippo Foundation;SobiNot recruiting4 YearsN/AAll20Phase 2/Phase 3United States
17NCT03952637August 19, 201922 October 2019Intravenous Gene Transfer With an AAV9 Vector Expressing Human <=-Galactosidase in Type II GM1 GangliosidosisA Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type II GM1 GangliosidosisLysosomal Diseases;Gangliosidosis;GM1Biological: AAV9-GLB1National Human Genome Research Institute (NHGRI)Axovant Sciences, Inc.Recruiting2 Years12 YearsAll12Phase 1/Phase 2United States
18NCT04069260August 2, 20194 November 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.Recruiting12 YearsN/AAll6Phase 2Canada
19NCT03021941July 31, 20197 October 2019Pharmacokinetics, 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/kgPfizerNot recruitingN/A12 YearsAll0Phase 4United States
20NCT04046224July 23, 20194 November 2019Dose-Ranging Study of ST-920, a rAAV2/6 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, a rAAV2/6 Human Alpha Galactosidase A Gene Therapy, in Subjects With Fabry DiseaseFabry DiseaseBiological: ST-920Sangamo TherapeuticsRecruiting18 YearsN/AMale18Phase 1/Phase 2United States
No.TrialIDDate_
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21NCT03775174June 24, 201916 September 2019Individual Patient Compassionate Use of MepseviiMPS VII;Mucopolysaccharidosis VII;Sly SyndromeDrug: MepseviiUltragenyx Pharmaceutical IncNot recruitingN/AN/AAllN/A
22NCT03759665June 7, 20194 November 2019N-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 IncRecruiting6 YearsN/AAll39Phase 2United States;Germany;Spain;United Kingdom
23NCT00962260June 201917 September 2018Expanded 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)PfizerNot recruiting18 YearsN/AAllPhase 4United States;Israel
24NCT04145037May 30, 20194 November 2019Phase 1/2 Lentiviral Vector Gene Therapy AVR-RD-02 for Subjects With Type 1 Gaucher DiseaseAn Adaptive, 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-02AvroBioRecruiting16 Years35 YearsAll16Phase 1/Phase 2Canada
25NCT03949920May 16, 20192 September 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 TrustSalford Royal NHS Foundation TrustRecruiting16 YearsN/AAll21N/AUnited Kingdom
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26JPRN-JMA-IIA0042107/05/201910 September 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 NeurologyNot RecruitingNo LimitNo LimitBOTH3Phase 2-3Japan
27JPRN-JapicCTI-19473130/4/201916 July 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 diseaseFabry 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 LtdNot Recruiting16BOTH20Phase 3Japan
28NCT03771898April 30, 201928 October 2019A Study of Intrathecal SHP611 in Participants With Late Infantile Metachromatic LeukodystrophyA Global, Multicenter, Open-label, Matched Historical Control Study of Intrathecal SHP611 in Subjects With Late Infantile Metachromatic LeukodystrophyMetachromatic Leukodystrophy (MLD)Drug: SHP611ShireRecruiting6 Months72 MonthsAll42Phase 2United States;Belgium;Brazil;Canada;France;Germany;Israel;Mexico;Netherlands;Spain;United Kingdom;Denmark;Japan
29NCT03950050March 1, 20197 October 2019Ambroxol 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 CenterRecruiting18 Years75 YearsAll60Phase 2Israel
30NCT03893071March 20198 April 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-cyclodextrinCTD Holdings, Inc.Recruiting18 YearsN/AAll12Phase 1United States
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31NCT03471143February 22, 201926 August 2019Study of IV VTS-270 for Infantile Liver Disease Associated With Niemann-Pick Disease, Type CPhase 1/2a Study of 2-Hydroxypropyl-Beta-Cyclodextrin Therapy for Infantile Liver Disease Associated With Niemann-Pick Disease, Type CNiemann-Pick Disease, Type CDrug: 2-Hydroxypropyl-Beta-CyclodextrinWashington University School of MedicineEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)RecruitingN/A6 MonthsAll12Phase 1/Phase 2United States
32EUCTR2018-001148-67-ES08/02/201928 February 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 DiseaseFabry 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
Pharmaceutical Form: Concentrate for solution for infusion
INN or Proposed INN: PEGUNIGALSIDASE ALFA
CAS Number: 1644392-61-9
Current Sponsor code: PRX-102
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 2-
Protalix Ltd.Authorised Female: yes
Male: yes
110Phase 3United States;Slovenia;Spain;Turkey;Italy;Switzerland;United Kingdom;Hungary;Czech Republic;Canada;Argentina;Belgium;Brazil;Australia;Denmark;Norway;Netherlands;Germany
33NCT03811028January 23, 20194 November 2019A 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 BiovitrumRecruiting18 Months78 MonthsAll9Phase 1/Phase 2United States;Turkey
34JPRN-JMA-IIA0041617/01/20197 October 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 diseaseMucopolysaccharidosis type7Intervention type:DRUG. Intervention1:ADMINISTRATION, Dose form:INJECTION, Route of administration:INTRAVENOUS DRIP, intended dose regimen:UX003 is a sterile liquid buffered saline formulation of rhGUS that contains enzyme at a concentration of 2 mg/mL filled to allow the withdrawal of a 5.0 mL deliverable volume and supplied in a 10 mL glass vial. 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 Hospital takashi hamazakiNOT APPLICABLERecruiting>=4 YEARS<=40 YEARSBOTH3Phase 2Japan
35NCT03822013January 14, 201911 February 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
No.TrialIDDate_
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36NCT03708965January 1, 201915 July 2019An 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.RecruitingN/AN/AMale18Phase 2Brazil
37EUCTR2018-000195-15-FR27/12/201830 April 2019An 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 IIIAMucopolysaccharidosis 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
Pharmaceutical Form: Injection
INN or Proposed INN: olenasufligene relduparvovec
Current Sponsor code: LYS-SAF302
Other descriptive name: LYS-SAF302
Concentration unit: vector genomes (vg)/mL
Concentration type: equal
Concentration number: 2.4E+12-
Lysogene SAAuthorised Female: yes
Male: yes
20Phase 2;Phase 3United States;France;Netherlands;Germany;United Kingdom
38NCT03737214December 18, 20184 November 2019A 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.Recruiting18 YearsN/AAll108Phase 3United States;Australia;Austria;Belgium;Canada;Germany;Ireland;Netherlands;Poland;United Kingdom;Czechia;France
39NCT04002531November 10, 201815 July 2019Follow up Study of Adults Treated With Replagal as ChildrenA One Visit Follow Up of Adults With Fabry Disease Who Started Long-term Enzyme Replacement Therapy As ChildrenQuality of Life;Renal Insufficiency;Cardiac EventOther: General and Neurological examination;Other: Vital signs;Procedure: 12 lead electrocardiogram;Procedure: Echocardiogram;Procedure: Blood draw;Procedure: Urine collection;Procedure: 2-hour Holter Monitor;Other: Brief Pain Inventory questionnaire;Other: Quality of Life questionnaireBaylor Research InstituteShireRecruiting18 YearsN/AAll12N/AUnited States
40NCT03614234November 6, 201814 October 2019Open 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 alfaProtalixRecruiting18 YearsN/AAll40Phase 3United States;Belgium;Czechia;Denmark;Italy;Norway;United Kingdom
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41NCT03725670October 30, 201830 September 2019Lentiviral 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 InstituteRecruiting1 MonthN/AAll10N/AChina
42EUCTR2016-002328-10-NL29/10/201812 November 2018Gene 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.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;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]Product Name: AAV2/8.TBG.hARSB
Product Code: not applicable
Pharmaceutical Form: Solution for infusion
INN or Proposed INN: NA
CAS Number: NA
Current Sponsor code: AAV2/8.TBG.hARSB
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
Concentration unit: U unit(s)
Concentration type: equal
Concentration number: 25900000000000-
FONDAZIONE TELETHONAuthorisedFemale: yes
Male: yes
10Phase 1Turkey;Netherlands;Italy
43NCT03643562October 24, 201811 March 2019An Open-label Treatment Protocol for VTS-270 in Patients With Neurologic Manifestations of NPCAn Open-label Expanded Access Treatment Protocol for VTS-270 (2-hydroxypropyl-ß-cyclodextrin) in Patients With Neurologic Manifestations of Niemann-Pick Type C Disease (NPC)Niemann-Pick Type C DiseaseDrug: VTS270Vtesse, Inc., a Mallinckrodt Pharmaceuticals CompanyNot recruiting4 YearsN/AAllPhase 2United States
44NCT03500094October 11, 201828 October 2019Safety, 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 TherapeuticsRecruiting12 Years17 YearsAll20Phase 3United States;Spain;United Kingdom
45NCT03639844September 28, 201822 October 2019BPX-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 PharmaceuticalsNot recruiting3 Months21 YearsAllN/AUnited States
No.TrialIDDate_
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46NCT03566017September 20, 20183 December 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 alfaProtalixRecruiting18 Years60 YearsAll110Phase 3United States;Australia;Canada;Czechia;Hungary;Netherlands;Norway;Slovenia;Spain;United Kingdom
47NCT03632213September 12, 201817 September 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 FoundationNot recruiting10 Years40 YearsAll30Phase 2Brazil
48EUCTR2014-001411-39-ES04/09/201810 September 2018Gene transfer clinical trial for Mucopolysaccharidosis IIIBPhase I/II gene transfer clinical trial of rAAV9.CMV.hNAGLU for Mucopolysaccharidosis (MPS) IIIBMPS 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
Pharmaceutical Form: Solution for infusion
INN or Proposed INN: rAAV9.CMV.hNAGLU
Current Sponsor code: rAAV9.CMV.hNAGLU
Other descriptive name: rAAV9.CMV.hNAGLU
Concentration unit: IU/ml international unit(s)/millilitre
Concentration type: equal
Concentration number: 50000000000000-
Abeona Therapeutics IncAuthorisedFemale: yes
Male: yes
9Phase 1;Phase 2France;United States;Spain;Netherlands;Germany;Italy;United Kingdom
49NCT03702361September 4, 20184 March 2019Rapid 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 CenterRecruiting6 Years75 YearsAll15Phase 4Israel
50EUCTR2018-000206-28-GB14/08/201830 April 2019A 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
Pharmaceutical Form: Solution for infusion
INN or Proposed INN: Not yet assigned
CAS Number: 2143578-31-6
Current Sponsor code: SB-47171
Other descriptive name: Adeno-associated virus serotype 2/6 encoding Left side-zinc finger nuclease (ZFN1), SB-A6P-ZLEFT Vector
Concentration unit: vector genomes (vg)/mL
Concentration type: equal
Concentration number: 10000000000000-
Product Name: rAAV2/6 Right ZFN Vector
Product Code: SB-47898
Pharmaceutical Form: Solution for infusion
INN or Proposed INN: Not yet assigned
CAS Number: 2143578-32-7
Current Sponsor code: SB-47898
Other descriptive name: Adeno-associated virus serotype 2/6 encoding Right side-zinc finger nuclease (ZFN2), SB-A6P-ZRIGHT Vector
Concentration unit: vector genomes (vg)/mL
Concentration type: equal
Concentration number: 10000000000000-
Product Name: SB-A6P-HRL Donor Vector
Product Code: SB-IDUA
Pharmaceutical Form: Solution for infusion
INN or Proposed INN: Not yet assigned
CAS Number: 2143580-11-2
Current Sponsor code: SB-IDUA
Other descriptive name: Adeno-associated virus serotype 2/6 encoding human iduronidase (hIDUA) gene donor vector, SB-A6P-HRL Donor Vector
Concentration unit: vector genomes (vg)/mL
Concentration type: equal
Concentration number: 10000000000000-
Sangamo Therapeutics, Inc.Authorised Female: yes
Male: yes
27Phase 1;Phase 2United States;United Kingdom
No.TrialIDDate_
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51NCT03568175August 1, 201821 January 2019A 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.Not recruitingN/AN/AMale20Phase 2/Phase 3Japan
52NCT03359213July 26, 201811 March 2019A 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.Not recruitingN/AN/AMale18Phase 2Brazil
53EUCTR2017-003369-85-AT29/06/201828 February 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. - MODIFYFabry 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
Pharmaceutical Form: Capsule, hard
INN or Proposed INN: Lucerastat
Current Sponsor code: ACT-434964
Other descriptive name: OGT923
Concentration unit: mg milligram(s)
Concentration type: equal
Concentration number: 250-
Pharmaceutical form of the placebo: Capsule, hard
Route of administration of the placebo: Oral use
Idorsia Pharmaceuticals LtdAuthorised Female: yes
Male: yes
108Phase 3United States;Canada;Austria;Netherlands;United Kingdom;Switzerland
54NCT03425539June 21, 20184 November 2019Efficacy and Safety of Lucerastat Oral Monotherapy in Adult Subjects 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 DiseaseFabry DiseaseDrug: Lucerastat;Drug: PlaceboIdorsia Pharmaceuticals Ltd.Recruiting18 YearsN/AAll108Phase 3United States;Australia;Austria;Belgium;Canada;Germany;Ireland;Netherlands;Poland;United Kingdom;Czechia;France
55NCT03423186June 19, 201815 July 2019A 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 BiovitrumRecruiting12 Months72 MonthsAll9Phase 1/Phase 2United States;Germany;Turkey
No.TrialIDDate_
enrollement
Last_Refreshed_
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PhaseCountries
56NCT03513328June 15, 20183 June 2019Conditioning 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 ResearchRecruiting6 Months38 YearsAll40Phase 1/Phase 2United States
57NCT03746587June 6, 201816 September 2019Study 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 capsuleOrphazymeNot recruiting4 Years60 YearsAll39Phase 2India
58EUCTR2017-001528-23-CZ07/05/201828 February 2019Phase 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
Pharmaceutical Form: Concentrate for solution for infusion
INN or Proposed INN: Pegunigalsidase alfa
CAS Number: 1644392-61-9
Current Sponsor code: PRX-102
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 2-
Protalix Ltd.Authorised Female: yes
Male: yes
30Phase 3United States;Taiwan;Spain;Turkey;Austria;United Kingdom;Czech Republic;Canada;Belgium;Denmark;Germany;Netherlands;Norway
59NCT03519646April 23, 20188 April 2019Eliglustat 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 HospitalSanofiNot recruiting6 YearsN/AAll4N/ATaiwan
60NCT03485677April 11, 201811 November 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 3Gaucher's Disease Type I;Gaucher's Disease Type IIIDrug: Eliglustat GZ385660;Drug: Imiglucerase GZ437843SanofiRecruiting2 Years17 YearsAll60Phase 3Argentina;Canada;France;Italy;Russian Federation;Spain;Sweden;Turkey;United Kingdom
No.TrialIDDate_
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Last_Refreshed_
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PhaseCountries
61NCT03721627April 3, 20185 November 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 HospitalRecruiting6 Years18 YearsAll10Phase 4Egypt
62NCT03454893February 21, 20189 September 2019Open-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-01AvroBioRecruiting16 Years50 YearsMale12Phase 1/Phase 2Australia
63NCT03784287February 19, 20189 September 2019A Treatment Extension Study of Mucopolysaccharidosis 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;MPS III BDrug: BMN 250BioMarin PharmaceuticalRecruitingN/A18 YearsAll33Phase 2United States;Germany;Spain;Taiwan;Turkey;United Kingdom
64NCT03204370February 1, 201825 February 2019Natural 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 PharmaceuticalRecruiting18 YearsN/AAll9N/AFrance
65EUCTR2018-000195-15-NL1 October 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 IIIAMucopolysaccharidosis 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
Pharmaceutical Form: Injection
INN or Proposed INN: olenasufligene relduparvovec
Current Sponsor code: LYS-SAF302
Other descriptive name: LYS-SAF302
Concentration unit: vector genomes (vg)/mL
Concentration type: equal
Concentration number: 2.4E+12-
Lysogene SANot AvailableFemale: yes
Male: yes
20Phase 2;Phase 3France;United States;Germany;Netherlands;United Kingdom
No.TrialIDDate_
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66NCT03370653December 30, 201711 November 2019A 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 PharmaNot recruiting16 YearsN/AAll20Phase 2France;Germany;Portugal;United Kingdom
67NCT02939547October 11, 201711 November 2019Study 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-cyclodextrinCTD Holdings, Inc.Not recruiting18 YearsN/AAll12Phase 1United States
68NCT03180840September 27, 20177 October 2019Study of the Safety, Efficacy, & PK of Pegunigalsidase Alfa (PRX-102) 2 mg/kg IV Administered Every 4 Weeks in Fabry Disease PatientsPhase 3, Open-Label, Switch Over Study to Assess Safety, Efficacy & PK of Pegunigalsidase Alfa 2 mg/kg Administered Every 4 Weeks for 52 Weeks in Fabry Disease Patients Currently Treated With Enzyme Replacement Therapy: Fabrazyme® (Agalsidase Beta) or Replagal™ (Agalsidase Alfa)Fabry DiseaseBiological: Pegunigalsidase alfaProtalixNot recruiting18 Years60 YearsAll30Phase 3United States;Belgium;Canada;Czechia;Denmark;Italy;Netherlands;Norway;Spain;Taiwan;Turkey;United Kingdom
69EUCTR2017-000645-48-FI21/09/201716 October 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 AGUAspartylglucosaminuria;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]Trade Name: Cystadane anhydrous
Pharmaceutical Form: Oral powder
Minna LaineProf. Ritva TikkanenAuthorisedFemale: yes
Male: yes
Phase 2Finland
70EUCTR2017-001528-23-BE21/08/201730 October 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
Pharmaceutical Form: Concentrate for solution for infusion
INN or Proposed INN: Pegunigalsidase alfa
CAS Number: 1333358-30-7
Current Sponsor code: PRX-102
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 2-
Protalix Ltd.AuthorisedFemale: yes
Male: yes
30Phase 3United States;Canada;Belgium;Turkey;Netherlands;Germany;United Kingdom
No.TrialIDDate_
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71NCT03173521July 17, 20174 February 2019Gene 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 TelethonRecruiting4 Years65 YearsAll10Phase 1/Phase 2Italy;Netherlands;Turkey
72NCT03201627July 5, 20177 October 2019Study of Lithium Carbonate to Treat Niemann-Pick Type C1 Diseasea Single-center, Prospective, Open, and Non-randomized Case-control Study of Lithium Carbonate Effect on Niemann Disease C1 TypeNiemann-Pick Disease, Type C1Drug: Lithium CarbonateXinhua Hospital, Shanghai Jiao Tong University School of MedicineNot recruiting7 Years40 YearsAll18Early Phase 1China
73NCT02921620July 201718 January 2018Study 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: PlaceboProtalixNot recruiting14 Years45 YearsMale0Phase 3
74NCT03153319June 5, 201715 July 2019Study to Evaluate the Safety and Efficacy of Adalimumab in MPS I and IIPhase 1/2 Study of the Effect of Adalimumab on Physical Function and Musculoskeletal Disease in Mucopolysaccharidosis Types I and IIMucopolysaccharidosis I;Mucopolysaccharidosis IIDrug: Adalimumab Injection [Humira];Drug: Saline Solution for InjectionLos Angeles Biomedical Research InstituteRecruiting5 YearsN/AAll14Phase 1/Phase 2United States
75EUCTR2016-000378-38-NL24/05/201728 February 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 BetaFabry 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
Pharmaceutical Form: Concentrate for solution for infusion
INN or Proposed INN: Pegunigalsidase alpha
CAS Number: 1333358-30-7
Current Sponsor code: PRX-102
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 2-
Trade Name: Fabrazyme
Product Name: Fabrazyme
Pharmaceutical Form: Powder for concentrate for solution for infusion
INN or Proposed INN: AGALSIDASE BETA
CAS Number: 104138-64-9
Current Sponsor code: N/A
Other descriptive name: N/A
Concentration unit: mg milligram(s)
Concentration type: equal
Concentration number: 35 -
Trade Name: Fabrazyme
Product Name: Fabrazyme
Pharmaceutical Form: Powder for concentrate for solution for infusion
INN or Proposed INN: AGALSIDASE BETA
CAS Number: 104138-64-9
Current Sponsor code: N/A
Other descriptive name: N/A
Concentration unit: mg milligram(s)
Concentration type: equal
Concentration number: 5 -
Protalix Ltd.Authorised Female: yes
Male: yes
78Phase 3United States;Slovenia;Paraguay;Finland;Spain;Turkey;Italy;United Kingdom;France;Hungary;Czech Republic;Canada;Argentina;Belgium;Brazil;Australia;Norway;Netherlands;Germany
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76NCT02702115May 24, 20172 September 2019Ascending 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 TherapeuticsNot recruiting5 YearsN/AAll3Phase 1/Phase 2United States
77NCT03041324May 11, 201711 November 2019Ascending 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 TherapeuticsNot recruiting5 YearsN/AAll9Phase 1/Phase 2United States
78NCT03128593March 30, 201716 December 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.Not recruiting6 YearsN/AMale12Phase 1/Phase 2Japan
79NCT02956954March 25, 201711 June 2018Follow-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, RouenRecruiting18 YearsN/AAll25N/AFrance
80EUCTR2016-001318-11-GB24/03/20173 April 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: 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
Pharmaceutical Form: Solution for injection
INN or Proposed INN: Pegunigalsidase alpha
CAS Number: 1333358-30-7
Current Sponsor code: PRX-102
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 2-
Protalix Ltd.AuthorisedFemale: yes
Male: yes
22Phase 3Canada;Spain;Australia;Norway;Netherlands;Germany;United Kingdom
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size
PhaseCountries
81NCT02912793March 20, 201711 November 2019Safety 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-cyclodextrinCTD Holdings, Inc.Recruiting2 YearsN/AAll12Phase 1/Phase 2Israel;Sweden;United Kingdom
82EUCTR2015-005761-23-SE19/01/20175 February 2018A 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 outcomesNiemann-Pick disease type C
MedDRA version: 19.1 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
Pharmaceutical Form: Solution for infusion
INN or Proposed INN: hydroxypropyl-beta-cyclodextrin
CAS Number: 128446-35-5
Current Sponsor code: Trappsol Cyclo
Other descriptive name: hydroxypropyl-beta-cyclodextrin
Concentration unit: % (W/V) percent weight/volume
Concentration type: equal
Concentration number: 25-
CTD Holdings, Inc.AuthorisedFemale: yes
Male: yes
12Phase 1;Phase 2Italy;United Kingdom;Sweden
83NCT02843035January 4, 201714 October 2019GZ/SAR402671 in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3A 52-week Two-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 3Gaucher Disease Type 1-Gaucher Disease Type 3Drug: GZ402671Genzyme, a Sanofi CompanyRecruiting18 YearsN/AAll10Phase 2United States;Germany;Japan;United Kingdom
84EUCTR2017-002158-35-FR10 October 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. - iMProveSMucopolysaccharidosis (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
Pharmaceutical Form: Film-coated tablet
INN or Proposed INN: Odiparcil
CAS Number: 137215-12-4
Concentration unit: mg milligram(s)
Concentration type: equal
Concentration number: 250-
Pharmaceutical form of the placebo: Film-coated tablet
Route of administration of the placebo: Oral use
Inventiva S.A.Not AvailableFemale: yes
Male: yes
24Phase 2France;Germany;United Kingdom
85EUCTR2017-002158-35-PT7 January 2019Study 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
Pharmaceutical Form: Film-coated tablet
INN or Proposed INN: Odiparcil
CAS Number: 137215-12-4
Concentration unit: mg milligram(s)
Concentration type: equal
Concentration number: 250-
Pharmaceutical form of the placebo: Film-coated tablet
Route of administration of the placebo: Oral use
Inventiva S.A.Not AvailableFemale: yes
Male: yes
24Phase 2France;Portugal;Germany;United Kingdom
No.TrialIDDate_
enrollement
Last_Refreshed_
on
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
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sponsor
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agemin
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PhaseCountries
86EUCTR2017-002806-10-DE30 April 2019An 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 patientsMucopolysaccharidosis 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
Pharmaceutical Form: Solution for injection/infusion
Current Sponsor code: SOBI003
Other descriptive name: CHEMICALLY MODIFIED RECOMBINANT HUMAN SULFAMIDASE
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 20mg/ml-
Swedish Orphan Biovitrum AB (publ)Not Available Female: yes
Male: yes
9Phase 1United States;Turkey;Netherlands;Germany
87EUCTR2017-002806-10-NL12 November 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 patientsMucopolysaccharidosis 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
Pharmaceutical Form: Solution for injection/infusion
INN or Proposed INN: not applicable
CAS Number: NA
Current Sponsor code: SOBI003
Other descriptive name: CHEMICALLY MODIFIED RECOMBINANT HUMAN SULFAMIDASE
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 20-
Swedish Orphan Biovitrum AB (publ)Not AvailableFemale: yes
Male: yes
9Phase 1United States;Turkey;Germany;Netherlands
88NCT02663024December 20161 February 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 CorporationNot recruiting5 Years35 YearsMale20Phase 2
89NCT02998879December 201618 March 2019Trial 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.CromsourceNot recruitingN/A6 YearsAll5Phase 2Austria;Denmark;France;Germany;Italy
90NCT02995993November 20168 January 2018Pharmacokinetics, 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 GmbHNot recruiting18 Years65 YearsAll6Phase 1Germany
No.TrialIDDate_
enrollement
Last_Refreshed_
on
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
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PhaseCountries
91EUCTR2014-002550-39-DE20/10/201620 August 2018GZ/SAR402671 in Combination with Cerezyme in Adult Patients with Gaucher Disease Type 3A 156-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 - LEAPGaucher 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 Level: PT 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
Pharmaceutical Form: Capsule
CAS Number: 1401090-53-6
Current Sponsor code: SAR402671A / GZ402671
Other descriptive name: Genz-682452-AU
Concentration unit: mg milligram(s)
Concentration type: equal
Concentration number: 15-
Product Code: SAR402671, GZ402671 or GZ/SAR402671
Pharmaceutical Form: Granules for oral suspension
CAS Number: 1401090-53-6
Current Sponsor code: SAR402671A / GZ402671
Other descriptive name: Genz-682452-AU
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 2-
Genzyme CorporationAuthorisedFemale: yes
Male: yes
15Phase 2United States;Germany;Japan;United Kingdom
92NCT03123523October 18, 201616 December 2017Study of the Relation Between Lipid Myocardial Overload Evaluated by Cardiac Magnetic Resonance Imaging (MRI), Alteration of Longitudinal Myocardial Deformations by Echocardiography, and Clinical Achievements (Functional, Biological and Electrical) in Fabry Disease, and Its Outcomes.Fabry DiseaseDiagnostic Test: Echocardiography at T0;Diagnostic Test: Exercise test;Biological: Biological assays;Device: MRI with contrast agent injection;Device: MRI without contrast agent injection;Diagnostic Test: Echocardiography at M24University Hospital, BordeauxRecruiting18 YearsN/AAll55N/AFrance
93EUCTR2016-001988-36-DK05/10/201630 April 2019A 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-MannosidosisAlfa-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
Pharmaceutical Form: Powder for solution for infusion
INN or Proposed INN: VELMANASE ALFA
CAS Number: 1492823-75-2
Other descriptive name: recombinant human alpha-mannosidase
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 2-
Chiesi Farmaceutici S.p.A.Authorised Female: yes
Male: yes
3Phase 2Austria;Denmark;Germany
94NCT03071341October 20161 October 2018Extension 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, IncNot recruiting2 YearsN/AAll19Phase 1/Phase 2Brazil
95EUCTR2015-005761-23-GB26/09/20161 October 2018A 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 outcomesNiemann-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
Pharmaceutical Form: Solution for infusion
INN or Proposed INN: hydroxypropyl-beta-cyclodextrin
CAS Number: 128446-35-5
Current Sponsor code: Trappsol Cyclo
Other descriptive name: hydroxypropyl-beta-cyclodextrin
Concentration unit: % (W/V) percent weight/volume
Concentration type: equal
Concentration number: 25-
CTD Holdings, Inc.AuthorisedFemale: yes
Male: yes
12Phase 1;Phase 2Italy;United Kingdom;Sweden
No.TrialIDDate_
enrollement
Last_Refreshed_
on
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
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sponsor
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agemin
Inclusion_
agemax
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gender
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size
PhaseCountries
96EUCTR2016-000378-38-GB07/09/201621 August 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 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 BetaFabry 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
Pharmaceutical Form: Concentrate for solution for infusion
INN or Proposed INN: Pegunigalsidase alpha
CAS Number: 1333358-30-7
Current Sponsor code: PRX-102
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 2-
Trade Name: Fabrazyme
Product Name: Fabrazyme
Pharmaceutical Form: Powder for concentrate for solution for infusion
INN or Proposed INN: AGALSIDASE BETA
CAS Number: 104138-64-9
Current Sponsor code: N/A
Other descriptive name: N/A
Concentration unit: mg milligram(s)
Concentration type: equal
Concentration number: 35 -
Trade Name: Fabrazyme
Product Name: Fabrazyme
Pharmaceutical Form: Powder for concentrate for solution for infusion
INN or Proposed INN: AGALSIDASE BETA
CAS Number: 104138-64-9
Current Sponsor code: N/A
Other descriptive name: N/A
Concentration unit: mg milligram(s)
Concentration type: equal
Concentration number: 5 -
Protalix Ltd.AuthorisedFemale: yes
Male: yes
78Phase 3United States;Slovenia;Paraguay;Spain;Turkey;United Kingdom;Czech Republic;Hungary;Canada;Argentina;Belgium;Brazil;Australia;Norway;Netherlands;Germany
97EUCTR2015-000753-20-NL16/08/201616 January 2017A 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 INTRAVENOUSLYMucopolysaccharidosis 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
Pharmaceutical Form: Solution for infusion
INN or Proposed INN: not available
CAS Number: 37288-40-7
Current Sponsor code: SBC-103
Other descriptive name: rhNAGLU
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 2-
Product Name: 89 Zirconium Recombinant Human Alpha-N-Acetylglucosaminidase (rhNAGLU) (radiolabeled)
Product Code: 89Zr-SBC-103
Pharmaceutical Form: Solution for infusion
INN or Proposed INN: not available
CAS Number: 37288-40-7
Current Sponsor code: SBC-103 radiolabelled
Other descriptive name: rhNAGLU radiolabelled
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 2-
Alexion Pharmaceuticals, Inc.Not RecruitingFemale: yes
Male: yes
4Phase 2Netherlands
98EUCTR2015-003904-21-ES01/08/201617 September 2018Gene transfer clinical trial for Mucopolysaccharidosis IIIAPhase I/II gene transfer clinical trial of scAAV9.U1a.hSGSH for Mucopolysaccharidosis (MPS) IIIAMPS 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
Pharmaceutical Form: Concentrate and solvent for solution for infusion
INN or Proposed INN: scAAV9.U1A.SGSH
Current Sponsor code: scAAV9.U1A.SGSH
Other descriptive name: scAAV9.U1A.SGSH
Concentration unit: IU/ml international unit(s)/millilitre
Concentration type: equal
Concentration number: 2900000000-
Abeona Therapeutics IncAuthorisedFemale: yes
Male: yes
18Phase 1;Phase 2United States;Spain;Australia
99JPRN-JMA-IIA0035029/07/20162 April 2019Phase I/II clinical trial of idursulfase beta for mucopolysaccharidosis type IIPhase I/II clinical trial of idursulfase beta for mucopolysaccharidosis type IIPatients 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 ShintakuNot Recruiting>=6 MONTHS<15 YEARSMale6Phase 1-2Japan
100NCT02800070July 20161 October 2018Autologous 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.Recruiting18 Years50 YearsMale6Phase 1Canada
No.TrialIDDate_
enrollement
Last_Refreshed_
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Public_titleScientific_titleConditionInterventionPrimary_
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PhaseCountries
101NCT02574286June 29, 20161 July 2019Study 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 DShireNot recruiting18 Years70 YearsAll19Phase 4United States;Israel;Spain;United Kingdom
102NCT02612129June 14, 201627 May 2019Arimoclomol Prospective Study in Patients Diagnosed With NiemannPick Disease Type CArimoclomol Prospective Doubleblind, Randomised, Placebo-controlled Study in Patients Diagnosed With NiemannPick Disease Type CNiemann-Pick Disease, Type CDrug: arimoclomol;Drug: PlaceboOrphazymeNot recruiting2 Years18 YearsAll50Phase 2/Phase 3United States;Denmark;France;Germany;Italy;Poland;Spain;Switzerland;United Kingdom
103NCT02795676June 20164 November 2019Study 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 betaProtalixNot recruiting18 Years60 YearsAll78Phase 3United States;Argentina;Australia;Belgium;Brazil;Canada;Czechia;Finland;France;Germany;Hungary;Italy;Netherlands;Norway;Paraguay;Slovenia;Spain;Switzerland;Turkey;United Kingdom;Czech Republic
104EUCTR2015-004438-93-DK09/05/20165 June 2018A 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: _
Pharmaceutical Form: Capsule, hard
INN or Proposed INN: Arimoclomol
CAS Number: _
Current Sponsor code: OR0003
Other descriptive name: _
Concentration unit: mg milligram(s)
Concentration type: equal
Concentration number: 25-
Pharmaceutical form of the placebo: Capsule, hard
Route of administration of the placebo: Oral use
Product Name: Arimoclomol
Product Code: _
Pharmaceutical Form: Capsule, hard
INN or Proposed INN: Arimoclomol
CAS Number: _
Current Sponsor code: OR0003
Other descriptive name: _
Concentration unit: mg milligram(s)
Concentration type: equal
Concentration number: 50-
Pharmaceutical form of the placebo: Capsule, hard
Route of administration of the placebo: Oral use
Product Name: Arimoclomol
Product Code: _
Pharmaceutical Form: Capsule, hard
INN or Proposed INN: ARIMOCLOMOL
Current Sponsor code: OR0003
Concentration unit: mg milligram(s)
Concentration type: equal
Concentration number: 100-
Orphazyme A/SAuthorisedFemale: yes
Male: yes
52Phase 2;Phase 3United States;Spain;Poland;Denmark;Germany;United Kingdom;Italy;Switzerland
105NCT02843334May 20168 August 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 LyonRecruiting18 Years70 YearsBoth6000N/AFrance
No.TrialIDDate_
enrollement
Last_Refreshed_
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Public_titleScientific_titleConditionInterventionPrimary_
sponsor
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PhaseCountries
106EUCTR2015-000359-26-ES29/04/201613 June 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
Pharmaceutical Form: Suspension for injection
INN or Proposed INN: Vector viral adenoasociado de serotipo 9 que contiene el gen de la sulfamidasa humana
CAS Number: 1352588-20-5
Current Sponsor code: AAV9- CAG-coh-SGSH
Other descriptive name: Vector viral adenoasociado de serotipo 9 que contiene el gen de la sulfamidasa humana
Concentration unit: Other
Concentration type: range
Concentration number: 1000000000000-1000000000000000
Laboratorios del Dr. Esteve, S.A.AuthorisedFemale: yes
Male: yes
Phase 1;Phase 2Spain
107EUCTR2014-004804-31-DE12/04/20167 January 2019A 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 AgeHunter syndrome (Mucopolysaccharidosis II, [MPS II]);Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]Trade Name: Elaprase
Pharmaceutical Form: Concentrate for solution for injection/infusion
INN or Proposed INN: IDURSULFASE
CAS Number: 50936-59-9
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 2-
Shire Human Genetic Therapies, IncAuthorisedFemale: no
Male: yes
20Phase 4Serbia;United States;Philippines;Saudi Arabia;Malaysia;Costa Rica;Thailand;Oman;Dominican Republic;Germany;Vietnam
108NCT02754076April 201610 September 2018A Treatment Study of Mucopolysaccharidosis Type 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)MPS III B;Mucopolysaccharidosis Type IIIBDrug: BMN 250BioMarin PharmaceuticalRecruiting1 Year10 YearsAll33Phase 1/Phase 2United States;Germany;Spain;Taiwan;Turkey;United Kingdom
109EUCTR2015-001985-25-DE22/03/201628 February 2019Phase 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: 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: BMN 250
Pharmaceutical Form: Concentrate and solvent for solution for infusion
INN or Proposed INN: Not available
Current Sponsor code: BMN 250
Other descriptive name: RHNAGLU-IGF2
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 30-
BioMarin Pharmaceutical Inc.Authorised Female: yes
Male: yes
33Phase 1;Phase 2Taiwan;Spain;Turkey;Australia;Colombia;Germany;United Kingdom
110NCT02716246March 201630 September 2019Phase I/II Gene Transfer Clinical Trial of scAAV9.U1a.hSGSHPhase I/II Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH for Mucopolysaccharidosis (MPS) IIIAMPS IIIA;Sanfilippo Syndrome;Sanfilippo A;Mucopolysaccharidosis IIIBiological: ABO-102Abeona Therapeutics, IncRecruiting6 MonthsN/AAll22Phase 1/Phase 2United States;Australia;Spain
No.TrialIDDate_
enrollement
Last_Refreshed_
on
Public_titleScientific_titleConditionInterventionPrimary_
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PhaseCountries
111NCT02678689February 201614 October 2019A 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 PharmaceuticalNot recruitingN/A17 YearsAll14Phase 2United States;Germany;Italy;United Kingdom
112NCT02156674January 26, 201630 September 2019Naglazyme 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 PharmaceuticalNot recruiting3 YearsN/AAll1N/AUnited States
113EUCTR2015-000891-85-DE19/01/201616 October 2017Phase 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 DiseaseNeuronal 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
Pharmaceutical Form: Solution for infusion
INN or Proposed INN: cerliponase alfa
CAS Number: 151662-36-1
Current Sponsor code: BMN 190
Other descriptive name: recombinant human tripeptidyl peptidase-1
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 30-
BioMarin Pharmaceutical Inc.AuthorisedFemale: yes
Male: yes
10Phase 2Germany;Italy;United Kingdom
114NCT04120506January 10, 201622 October 2019Long 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 CenterShireNot recruiting6 Years75 YearsAll15Phase 4
115NCT02030015December 22, 201511 June 2019Synergistic 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 Minnesota - Clinical and Translational Science InstituteRare 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
No.TrialIDDate_
enrollement
Last_Refreshed_
on
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
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PhaseCountries
116EUCTR2015-003031-35-GB20/11/201525 April 2016Immune 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 SyndromeSevere 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
Pharmaceutical Form: Oral solution
INN or Proposed INN: Methotrexate
CAS Number: 59-05-2
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 2-
Central Manchester University Hospitals NHS Foundation TrustAuthorisedFemale: yes
Male: yes
4United Kingdom
117NCT02432144November 10, 201528 January 2019A Long-Term Open-Label Treatment and Extension Study of UX003 rhGUS Enzyme Replacement Therapy in Subjects With MPS 7A 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 IncNot recruiting5 YearsN/AAll12Phase 3United States;Brazil;Mexico;Portugal
118EUCTR2015-001985-25-GB06/11/201530 April 2019Phase 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: 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: BMN 250
Pharmaceutical Form: Solution for infusion
INN or Proposed INN: Not available
Current Sponsor code: BMN 250
Other descriptive name: RHNAGLU-IGF2
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 30-
BioMarin Pharmaceutical Inc.Authorised Female: yes
Male: yes
33Phase 1;Phase 2Taiwan;Spain;Turkey;Australia;Germany;Colombia;United Kingdom
119NCT02597114November 20151 October 2018Extension 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, IncNot recruiting18 YearsN/AAll3Phase 1
120NCT02412787October 28, 201523 April 2019Study 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: ElapraseShireRecruitingN/A18 YearsMale49Phase 2/Phase 3United States;Australia;Canada;France;Mexico;Spain;United Kingdom;Argentina;Colombia
No.TrialIDDate_
enrollement
Last_Refreshed_
on
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PhaseCountries
121NCT02455622October 28, 201513 May 2019Long-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) infusionShireNot recruitingN/A6 YearsMale21Phase 4United States;Dominican Republic;Germany;Malaysia;Philippines;Serbia;Thailand;Vietnam;Oman;Saudi Arabia
122NCT02536755October 28, 20155 November 2018Study of Skeletal Response to Eliglustat in Patients With Gaucher DiseaseOpen Label Interventional Multicenter Phase 3b Study to Evaluate Skeletal Response to Eliglustat in Adult Patients Who Successfully Completed the Phase 2 or Phase 3 StudiesGaucher's DiseaseDrug: eliglustat GZ385660Genzyme, a Sanofi CompanyRecruitingN/AN/AAll32Phase 3Canada;Russian Federation
123NCT02618512October 15, 201511 June 2018A 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 PharmaceuticalsNot recruiting5 YearsN/AAll3Phase 1/Phase 2United Kingdom
124EUCTR2015-003105-41-GB13/10/201511 April 2016Treatment for Nonsense Mutation Mucopolysaccharidosis Type ICNS Unmet Medical Need in Mucopolysaccharidosis: A Phase 2 Safety and Pharmacokinetics Study of Ataluren (COMPASS) - COMPASSNonsense 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
Pharmaceutical Form: Powder for oral suspension
INN or Proposed INN: ATALUREN
CAS Number: 775304-57-9
Current Sponsor code: PTC124
Concentration unit: mg milligram(s)
Concentration type: equal
Concentration number: 125-
Product Name: ataluren
Product Code: PTC124
Pharmaceutical Form: Powder for oral suspension
INN or Proposed INN: ATALUREN
CAS Number: 775304-57-9
Current Sponsor code: PTC124
Concentration unit: mg milligram(s)
Concentration type: equal
Concentration number: 250-
Product Name: ataluren
Product Code: PTC124
Pharmaceutical Form: Powder for oral suspension
INN or Proposed INN: ATALUREN
CAS Number: 775304-57-9
Current Sponsor code: PTC124
Concentration unit: mg milligram(s)
Concentration type: equal
Concentration number: 1000-
PTC Therapeutics Inc.AuthorisedFemale: yes
Male: yes
Phase 2United Kingdom
125NCT02534844October 20151 April 2019Study of VTS-270 (2-hydroxypropyl-ß-cyclodextrin) to Treat Niemann-Pick Type C1 (NPC1) DiseaseA Phase 2b/3 Prospective, Randomized, Double-Blind, Sham-Controlled 3-Part Trial of VTS-270 (2-hydroxypropyl-ß-cyclodextrin) in Subjects With Neurologic Manifestations of Niemann-Pick Type C1 (NPC1) DiseaseNiemann-Pick Disease, Type CDrug: VTS-270;Drug: Sham Procedure ControlVtesse, Inc., a Mallinckrodt Pharmaceuticals CompanyNot recruiting4 Years21 YearsAll51Phase 2/Phase 3United States;Australia;France;Germany;Spain;Turkey;United Kingdom
No.TrialIDDate_
enrollement
Last_Refreshed_
on
Public_titleScientific_titleConditionInterventionPrimary_
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PhaseCountries
126NCT03053089October 20151 October 2018Safety 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, IncNot recruiting2 YearsN/AAll21Phase 1/Phase 2Brazil
127NCT02536911September 201516 December 2017A 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 CompanyNot recruiting18 Years79 YearsAll24Phase 1United States
128NCT02536937September 201516 December 2017A 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: eliglustatSanofiNot recruiting18 Years79 YearsAll32Phase 1United States
129NCT02583672September 201526 August 2019Role 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 Minnesota - Clinical and Translational Science InstituteRare Diseases Clinical Research Network;National Center for Advancing Translational Science (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
130EUCTR2015-001983-20-GB06/08/20159 January 2017A 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 IntravenouslyMucopolysaccharidosis 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
Pharmaceutical Form: Concentrate for solution for infusion
INN or Proposed INN: not available
CAS Number: 1522433-40-4
Current Sponsor code: SBC-103
Other descriptive name: rhNAGLU
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 2-
Alexion Pharmaceuticals, IncAuthorisedFemale: yes
Male: yes
5Phase 2United Kingdom
No.TrialIDDate_
enrollement
Last_Refreshed_
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131NCT02376751August 201520 June 2016An 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 PharmaceuticalsNot recruiting8 MonthsN/ABothN/A
132NCT02418455July 21, 201515 April 2019An Open-Label Study 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 IncNot recruitingN/A5 YearsAll8Phase 2United States;Portugal;Spain
133NCT02489344July 7, 201521 January 2019Evaluation 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 CompanyNot recruiting18 YearsN/AMale8Phase 2United States;France;Poland;Russian Federation;United Kingdom
134NCT02371226July 201516 December 2017Safety 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, IncNot recruiting18 YearsN/AAll3Phase 1United States
135NCT02520934July 20158 April 2019Miglustat 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 HospitalActelionNot recruiting6 YearsN/AAll19N/ATaiwan
No.TrialIDDate_
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Last_Refreshed_
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136NCT02528617July 201512 March 2018The 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 ChildrenNot recruiting4 Years14 YearsAll0Phase 4United States
137NCT02437253May 201516 December 2017Effects 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 InstituteNot recruiting5 YearsN/AAll2Phase 1/Phase 2United States
138NCT02350816April 8, 201514 October 2019An 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-1410ShireNot recruiting12 Months48 MonthsAll17Phase 2United States;France;Germany;Italy;Netherlands;Spain;United Kingdom
139NCT02262338April 20151 October 2018Safety 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, IncNot recruiting18 YearsN/AMale6Phase 1United States;Germany;Philippines;Netherlands
140NCT02422654April 20158 June 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 CompanyNot recruiting18 Years55 YearsBoth8Phase 1United States
No.TrialIDDate_
enrollement
Last_Refreshed_
on
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Inclusion_
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PhaseCountries
141EUCTR2014-003480-37-GB10/03/201530 April 2019An 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 DiseaseLate-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
Pharmaceutical Form: Solution for infusion
INN or Proposed INN: cerliponase alfa
CAS Number: 151662-36-1
Current Sponsor code: BMN 190
Other descriptive name: RECOMBINANT HUMAN TRIPEPTIDYL PEPTIDASE-1 (RHTPP1)
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 30-
BioMarin Pharmaceutical Inc.Authorised Female: yes
Male: yes
23Phase 2United States;Germany;Italy;United Kingdom
142NCT02930655February 1, 201516 July 2018A 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.Not recruiting18 YearsN/AAll14Phase 1Germany
143NCT02478840February 201516 December 2017Evaluation 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/SNot recruitingN/AN/AAll18Phase 3Denmark
144NCT02485899February 201514 October 2019A 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 PharmaceuticalNot recruiting3 Years16 YearsAll23Phase 1/Phase 2United States;Germany;Italy;United Kingdom
145EUCTR2014-002596-28-GB28/01/201511 June 2018Treatment for Nonsense Mutation Mucopolysaccharidosis Type IA Phase 2 Study of Ataluren (PTC124) as Treatment for Nonsense Mutation Mucopolysaccharidosis Type INonsense 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
Pharmaceutical Form: Powder for oral suspension
INN or Proposed INN: ATALUREN
CAS Number: 775304-57-9
Current Sponsor code: PTC124
Concentration unit: mg milligram(s)
Concentration type: equal
Concentration number: 125, 250 or 1000-
Product Name: ataluren
Product Code: PTC124
Pharmaceutical Form: Powder for oral suspension
INN or Proposed INN: ATALUREN
CAS Number: 775304-57-9
Current Sponsor code: PTC124
Concentration unit: mg milligram(s)
Concentration type: equal
Concentration number: 125, 250 or 1000-
Product Name: ataluren
Product Code: PTC124
Pharmaceutical Form: Powder for oral suspension
INN or Proposed INN: ATALUREN
CAS Number: 775304-57-9
Current Sponsor code: PTC124
Concentration unit: mg milligram(s)
Concentration type: equal
Concentration number: 125, 250 or 1000-
PTC Therapeutics Inc.AuthorisedFemale: yes
Male: yes
18Phase 2Germany;United Kingdom
No.TrialIDDate_
enrollement
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146EUCTR2014-003950-15-DK22/01/201517 August 2015Medical 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 trialsalpha-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
Pharmaceutical Form: Powder for solution for infusion
INN or Proposed INN: recombinant human lysosomal alpha-mannosidase
Other descriptive name: LAMAZYM
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 2-
Zymenex A/SNot RecruitingFemale: yes
Male: yes
Denmark
147NCT02230566November 201416 December 2017A Phase 3 Study of UX003 rhGUS Enzyme Replacement Therapy in Patients With MPS 7A 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 IncNot recruiting5 Years35 YearsAll12Phase 3United States
148NCT02533076November 201431 August 2015The Functional Consequences of the CTNS-deletion for the TRPV1-receptor in Cystinosis PatientsThe Functional Consequences of the CTNS-deletion for the TRPV1-receptor in Cystinosis PatientsCystinosisOther: Challenge agent: capsaicin;Other: Challenge agent: placebo;Device: Mechanical stimulation with Von Frey filaments;Device: Temperature sensitivity measurement with Advanced Thermal StimulationUniversitaire Ziekenhuizen LeuvenNot recruiting8 YearsN/ABoth50Phase 0Belgium
149EUCTR2013-005324-41-GB07/10/20143 April 2017Evaluate 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 DiseaseFabry 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
Pharmaceutical Form: Capsule
CAS Number: 1401090-53-6
Current Sponsor code: SAR402671 / GZ402671
Other descriptive name: Genz-682452-AA
Concentration unit: mg milligram(s)
Concentration type: equal
Concentration number: 4-
Product Code: GZ402671 / SAR402671
Pharmaceutical Form: Capsule
CAS Number: 1401090-53-6
Current Sponsor code: SAR402671 (GZ402671)
Other descriptive name: Genz-682452-AA
Concentration unit: mg milligram(s)
Concentration type: equal
Concentration number: 15-
Genzyme CorporationNot RecruitingFemale: no
Male: yes
8Phase 2France;United States;Czech Republic;Poland;Russian Federation;United Kingdom
150NCT02194985October 201415 July 2019Open-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 TherapeuticsNot recruiting18 YearsN/AAll76Phase 3United States;Argentina;Australia;Austria;Belgium;Brazil;Canada;Denmark;Egypt;France;Italy;Japan;Spain;Turkey;United Kingdom
No.TrialIDDate_
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151NCT02254863September 201417 June 2019UCB 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 FoundationRecruitingN/A22 YearsAll12Phase 1United States
152NCT02294877September 201427 August 2018A 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 plcRecruitingN/AN/AAll583N/AUnited States;Australia;Austria;Belgium;Canada;Czechia;Denmark;France;Germany;Ireland;Italy;Malaysia;Netherlands;Poland;Portugal;Puerto Rico;Taiwan;United Kingdom
153NCT02023086August 201416 December 2017Clinical Investigation on the Blood Oxygenation at the Optic Nerve Head in Fabry PatientsClinical Investigation on the Blood Oxygenation at the Optic Nerve Head in Relation With Visual Field Loss in Fabry PatientsFabry DiseaseProcedure: Contrast sensitivity measurement;Procedure: Slit Lamp assessment and intra-ocular pressure measurement;Procedure: Visual field testing;Procedure: Oxygen flow at the optic nerve head measurement;Drug: Tropicamide;Device: OSOMEUniversité de MontréalGenzyme, a Sanofi CompanyNot recruiting18 YearsN/AAll8N/ACanada
154EUCTR2013-003228-35-ES16/07/201431 August 2015Study 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 cysteaminaCystinosis
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
Pharmaceutical Form: Eye drops, solution
INN or Proposed INN: Mercaptamine
CAS Number: 156-57-0
Other descriptive name: MERCAPTAMINE HYDROCHLORIDE
Concentration unit: % percent
Concentration type: equal
Concentration number: 0.55-
Fundació Hospital Universitari Vall d'Hebron - Institut de Recerca (VHIR)Not RecruitingFemale: yes
Male: yes
Spain
155EUCTR2013-003400-39-GB15/07/20149 January 2017A 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 IntravenouslyMucopolysaccharidosis 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
Pharmaceutical Form: Concentrate for solution for infusion
INN or Proposed INN: not available
CAS Number: 1522433-40-4
Current Sponsor code: SBC-103
Other descriptive name: rhNAGLU
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 2-
Alexion Pharmaceuticals, Inc.AuthorisedFemale: yes
Male: yes
9Phase 1;Phase 2United States;Spain;United Kingdom
No.TrialIDDate_
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156NCT02171104July 10, 20147 October 2019MT2013-31: 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 MinnesotaRecruitingN/A55 YearsAll100Phase 2United States
157NCT02112994June 24, 20144 February 2019Safety 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 PharmaceuticalsNot recruiting8 MonthsN/AAll31Phase 2United States;Australia;Belgium;Brazil;Canada;Croatia;Denmark;Germany;Italy;Mexico;Netherlands;Russian Federation;Spain;Turkey;United Kingdom
158EUCTR2013-001479-18-GB09/06/201428 February 2019High 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 SyndromeSanfilippo 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
Pharmaceutical Form: Oral powder
INN or Proposed INN: Genistein aglycone
CAS Number: 446-72-0
Other descriptive name: GENISTEIN
Concentration unit: % percent
Concentration type: not less then
Concentration number: 98-
Manchester University NHS Foundation TrustNot Recruiting Female: yes
Male: yes
24Phase 3United Kingdom
159NCT02193867June 201416 December 2017Clinical Trial 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 PharmaceuticalsNot recruitingN/A8 MonthsAll10Phase 2United States;Italy;United Kingdom
160EUCTR2014-000350-11-DE28/05/201416 November 2015Treatment 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 Level: LLT Classification code 10056887 Term: Mucopolysaccharidosis IH/S System Organ Class: 100000004850
MedDRA version: 17.0 Level: LLT 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®
Pharmaceutical Form: Solution for injection
INN or Proposed INN: PENTOSAN POLYSULFATE SODIUM
CAS Number: 37319-17-8
Other descriptive name: Pentosan Polysulphate SP54
Concentration unit: mg milligram(s)
Concentration type: equal
Concentration number: 100-
Multiplex Pharma Holdings LLCNot RecruitingFemale: yes
Male: yes
6Germany
No.TrialIDDate_
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161EUCTR2014-000533-22-GB28/05/201428 February 2019Study 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 DeficiencyLysosomal 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
Pharmaceutical Form: Concentrate for solution for injection/infusion
INN or Proposed INN: sebelipase alfa
CAS Number: 1276027-63-4
Current Sponsor code: SBC-102
Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 2-
Alexion Pharmaceuticals IncNot Recruiting Female: yes
Male: yes
10Phase 2United States;Finland;Italy;United Kingdom
162NCT02232477May 201422 October 2019Extension 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 - Clinical and Translational Science Institute;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)Recruiting6 YearsN/AAll16N/AUnited States
163NCT02124083April 25, 201416 December 2017Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1Neimann-Pick DiseaseDrug: VorinostatEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)Washington University School of Medicine;Weill Medical College of Cornell UniversityNot recruiting18 Years60 YearsAll12Phase 1/Phase 2United States
164EUCTR2013-003450-24-DE09/04/20145 December 2016Safety 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 DiseaseSanfilippo 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
Pharmaceutical Form: Solution for injection
INN or Proposed INN: Not available
Current Sponsor code: HGT-1410
Other descriptive name: Recombinant human heparan N-sulfatase
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 15-
Shire Human Genetic Therapies, IncNot RecruitingFemale: yes
Male: yes
18Phase 2France;United States;Argentina;Brazil;Spain;Netherlands;Germany;Italy;United Kingdom
165NCT02107846April 201410 October 2016An 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-112ProtalixNot recruiting18 YearsN/ABoth10Phase 2Israel
No.TrialIDDate_
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Last_Refreshed_
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166NCT02124070March 26, 201416 December 2017Therapeutic 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)Not recruiting18 Years70 YearsAll0Phase 1/Phase 2United States
167NCT02082327March 201419 February 2015A 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 TherapeuticsNot recruiting18 Years45 YearsBoth31Phase 1Netherlands
168NCT02084121February 201430 September 2019Allogeneic Stem Cell Transplantation for the Treatment of Multiple Sclerosis (Compassionate Use)Allogeneic Stem Cell Transplantation for the Treatment of Multiple Sclerosis (Compassionate Use)Metachromatic LeukodystrophyBiological: Enriched Hematopoetic Stem Cell InfusionUniversity of LouisvilleDuke UniversityNot recruiting3 YearsN/AMalePhase 4United States
169NCT01917708January 201419 November 2018BMT 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 UniversityNot recruitingN/A21 YearsAll10Phase 1United States
170NCT01981720December 20131 April 2019Extension 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)ProtalixNot recruiting18 YearsN/AAll15Phase 1/Phase 2United States;Paraguay;Spain;United Kingdom
No.TrialIDDate_
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171NCT02841358December 201316 December 2017Screening of Niemann-Pick Disease, Type C in a Psychiatric PopulationStudy Qbout the Screening of Niemann-Pick Disease, Type C in a Psychiatric PopulationPsychiatric Adults PatientsBiological: Blood sampling;Biological: BiopsyUniversity Hospital, GrenobleNot recruiting18 YearsN/AAll22N/AFrance
172EUCTR2013-002885-38-GB22/10/20135 June 2017Peadiatric 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
Pharmaceutical Form: Solution for injection
INN or Proposed INN: IDURSULFASE
CAS Number: 50936-59-9
Current Sponsor code: HGT-2310
Other descriptive name: idursulfase-IT
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 10-
Shire HGT IncAuthorisedFemale: no
Male: yes
54Phase 2;Phase 3France;United States;Mexico;Canada;Argentina;Spain;Australia;Germany;Colombia;United Kingdom
173EUCTR2012-003775-20-DE11/09/201323 July 2018A 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 LeukodystrophyTreatment 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
Pharmaceutical Form: Solution for injection
INN or Proposed INN: Not available
Current Sponsor code: SHP611
Other descriptive name: Recombinant Human Arylsulfatase A (rhASA)
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 30-
Shire Human Genetics Therapies IncAuthorisedFemale: yes
Male: yes
24Phase 1;Phase 2France;Czech Republic;Brazil;Denmark;Australia;Germany;Japan;Italy;United Kingdom
174NCT02021266September 1, 201330 September 2019Single 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 InfusionUniversity of LouisvilleDuke UniversityNot recruitingN/AN/AFemalePhase 1United States
175NCT01907087September 201318 March 2019A 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 PharmaceuticalNot recruiting3 Years15 YearsAll24Phase 1/Phase 2United States;Germany;Italy;United Kingdom
No.TrialIDDate_
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176NCT03300453September 201322 October 2018Intracerebral 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 PasteurNot recruiting18 Months60 MonthsAll4Phase 1/Phase 2France
177EUCTR2012-005430-11-GB15/08/201321 August 2017Phase 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) DiseaseLate-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
Pharmaceutical Form: Solution for infusion
INN or Proposed INN: cerliponase alfa
CAS Number: 151662-36-1
Current Sponsor code: BMN 190
Other descriptive name: recombinant human tripeptidyl peptidase-1
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 30-
BioMarin Pharmaceutical Inc.Not RecruitingFemale: yes
Male: yes
24Phase 1;Phase 2United States;Germany;United Kingdom
178NCT01908712August 201318 March 2019Lamazym 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.Not recruitingN/AN/AAll7Phase 3France
179NCT01966029July 20137 October 2019BMN 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 PharmaceuticalNot recruitingN/AN/AAll13Phase 3Australia
180JPRN-UMIN0000097582013/06/242 April 2019Development of treosulfan-based conditioning regimen for congenital metabolic diseases; Phase I studyMucopolysaccharidosis 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 University 2. Department of Pediatrics, Japanese Red cross Nagoya Daiichi Hospital 3. Department of Pediatrics, Nihon UniversityNot RecruitingNot applicableNot applicableMale and Female12Phase 1Japan
No.TrialIDDate_
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181EUCTR2013-000321-31-DK07/06/201315 January 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 aftercare treatment of subjects with alpha-Mannosidosis whom previously participated in Velmanase Alfa - trials - Phase IIIbTreatement 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
Pharmaceutical Form: Powder for solution for infusion
INN or Proposed INN: velmanase alfa
CAS Number: 1492823-75-2
Current Sponsor code: rhLAMAN
Other descriptive name: recombinant human alpha-mannosidase
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 2-
Chiesi Farmaceutici S.p.A.AuthorisedFemale: yes
Male: yes
8Phase 3Denmark
182NCT01908725June 201328 January 2019Lamazym 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.Not recruitingN/AN/AAll5Phase 3Denmark
183EUCTR2011-002750-31-DE29/05/201321 August 2017A 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
Pharmaceutical Form: Solution for infusion
INN or Proposed INN: NA
CAS Number: 1276027-63-4
Current Sponsor code: SBC-102
Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 2-
Pharmaceutical form of the placebo: Solution for infusion
Route of administration of the placebo: Intravenous use
Alexion Pharmaceuticals, Inc.Not 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;Poland;Brazil;Belgium;Romania;Croatia;Germany;Japan;Sweden
184NCT01887938May 23, 201324 June 2019An 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-1110ShireNot recruitingN/A13 YearsAll24Phase 1/Phase 2Australia;Brazil;Czechia;Denmark;France;Germany;Japan;Argentina;Czech Republic
185NCT01586455April 20138 January 2018Human 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 CollegeNot recruitingN/A55 YearsAll43Phase 1United States
No.TrialIDDate_
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186NCT01747980March 201319 February 2015Safety 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-112ProtalixNot recruiting18 YearsN/ABoth16Phase 1Israel
187NCT01769001March 201322 January 2018An 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-102ProtalixNot recruiting18 YearsN/AAll18Phase 1/Phase 2United States;Australia;Paraguay;Spain;United Kingdom
188NCT01842841March 201319 October 2017Multicenter 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.Not recruiting2 YearsN/AAll5Phase 3Japan
189NCT01733316January 13, 201316 December 2017Open-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.Not recruiting12 YearsN/AAll41Phase 3United States;Belgium;France;Italy;Netherlands;United Kingdom
190EUCTR2009-012564-13-FR03/01/201323 December 2013Cysteamine Hydrochloride for nephrOpathic Cystinosis, open-label Phase III pivotal studyCysteamine Hydrochloride for nephropathic Cystinosis, open-label Phase III pivotal study - CYSTADROPS CHOC studyNephropatic 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
Pharmaceutical Form: Eye drops, solution
INN or Proposed INN: CYSTEAMINE HYDROCHLORIDE
CAS Number: 156-57-0
Other descriptive name: Mercaptamine hydrochloride
Concentration unit: % (W/W) percent weight/weight
Concentration type: equal
Concentration number: 0.55-
Orphan Europe SARLNot RecruitingFemale: yes
Male: yes
Phase 3France
No.TrialIDDate_
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191NCT01747135January 20134 November 2019Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 DiseaseHydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 DiseaseNiemann-Pick Disease, Type C1Drug: VTS-270Vtesse, Inc., a Mallinckrodt Pharmaceuticals CompanyNot recruiting2 Years25 YearsAll14Phase 1United States
192NCT01757184January 201316 December 2017A Multicenter Study of SBC-102 (Sebelipase Alfa) in Patients With Lysosomal Acid Lipase Deficiency/ ARISE (Acid Lipase Replacement Investigating Safety and Efficacy)A Multicenter, Randomized, Placebo-Controlled Study of SBC-102 in Patients With Lysosomal Acid Lipase DeficiencyCholesterol Ester Storage Disease (CESD);Lysosomal Acid Lipase DeficiencyDrug: SBC-102 [sebelipase alfa] (1 mg/kg);Drug: PlaceboAlexion PharmaceuticalsNot recruiting4 YearsN/AAll66Phase 3United States;Argentina;Australia;Brazil;Canada;Croatia;Czech Republic;France;Germany;Greece;Israel;Italy;Japan;Mexico;Poland;Russian Federation;Spain;Turkey;United Kingdom
193NCT01744782December 19, 201216 December 2017Safety/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: RP103 Q12HHorizon Pharma USA, Inc.Not recruitingN/A6 YearsAll17Phase 3United States;Brazil
194EUCTR2012-000979-17-DE17/12/201223 November 2015A 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 IIITreatement of Alpha-Mannosidosis;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]Product Name: Lamazym
Product Code: rhLAMAN
Pharmaceutical Form: Powder for solution for infusion
INN or Proposed INN: rhLAMAN
Current Sponsor code: rhLAMAN
Other descriptive name: recombinant human alpha-mannosidase
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 10-
Pharmaceutical form of the placebo: Powder for solution for infusion
Route of administration of the placebo: Intravenous use
Zymenex A/SNot RecruitingFemale: yes
Male: yes
20Phase 3Spain;Belgium;Denmark;Germany;Sweden
195NCT01463215December 201219 February 2015Clinical 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 CorporationNot recruiting16 YearsN/ABoth20Phase 1/Phase 2United States
No.TrialIDDate_
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196EUCTR2011-004410-42-FR26/11/201219 May 2014Intracerebral 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 MLDEarly 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 Level: SOC 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
Pharmaceutical Form: Solution for injection
InsermAuthorisedFemale: yes
Male: yes
Phase 1/2France
197JPRN-UMIN0000093922012/11/242 April 2019An Open-Label, Dose Escalation, Proof-of-Concept Clinical Trial of Chaperone therapy of Neuronopathic Gaucher Disease with AmbroxolNeuronopathic 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 ScienceRecruitingNot applicableNot applicableMale and Female5Phase 2,3Japan
198NCT01653444November 20124 July 2016Evaluate 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 CorporationNot recruiting16 YearsN/AMale8Phase 1Korea, Republic of
199NCT01951989November 201219 February 2015Intra-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-FerrandRecruiting12 YearsN/ABoth60Phase 2France
200EUCTR2012-001966-14-ES25/10/20123 December 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-MAPFabry 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
Pharmaceutical Form: Solution for injection
INN or Proposed INN: iohexol
Current Sponsor code: Not applicable
Other descriptive name: iohexol
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 300-
Genzyme, a Sanofi CompanyAuthorisedFemale: no
Male: yes
45United States;Canada;Spain;Norway;Netherlands;United Kingdom
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201NCT01678898October 20122 May 2016Dose-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 Weeks to Adult Fabry PatientsFabry DiseaseDrug: PRX-102ProtalixNot recruiting18 YearsN/ABoth18Phase 1/Phase 2United States;Australia;Paraguay;Serbia;Spain;United Kingdom
202NCT01685216September 201219 October 2017Efficacy 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 alfaShireNot recruiting2 Years17 YearsAll7Phase 1/Phase 2Egypt;India;Tunisia
203EUCTR2011-004355-40-DE23/07/20122 February 2015A 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 2bTreatement of Alpha-Mannosidosis;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]Product Name: Lamazym
Product Code: rhLAMAN
Pharmaceutical Form: Powder for solution for infusion
Current Sponsor code: rhLAMAN
Other descriptive name: recombinant human alpha-mannosidase
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: range
Concentration number: 1.8-2.2
Zymenex A/SNot RecruitingFemale: yes
Male: yes
9Phase 2bSpain;Belgium;Denmark;Germany;United Kingdom
204NCT01626092July 11, 201216 December 2017Reduced-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 MinnesotaNot recruitingN/A55 YearsAll3N/AUnited States
205NCT01645189July 201219 February 2015Safety 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 CorporationNot recruitingN/A5 YearsMale6Phase 3Korea, Republic of
No.TrialIDDate_
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206EUCTR2011-005682-20-DE19/06/201210 July 2015A 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
Pharmaceutical Form: Solution for infusion
INN or Proposed INN: Not Available
CAS Number: 9025-60-9
Current Sponsor code: rhGALNS
Other descriptive name: recombinant human N-acetylgalactosamine-6-sulfatase, BMN 110 drug substance
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 1-
Pharmaceutical form of the placebo: Solution for infusion
Route of administration of the placebo: Intravenous use
BioMarin Pharmaceutical Inc.Not RecruitingFemale: yes
Male: yes
25United States;Canada;Germany;United Kingdom
207EUCTR2011-005703-33-DE19/06/20122 February 2015A 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 AmbulationMucopolysaccharidosis 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
Pharmaceutical Form: Solution for infusion
INN or Proposed INN: Not Available
CAS Number: 9025-60-9
Current Sponsor code: rhGALNS
Other descriptive name: recombinant human N-acetylgalactosamine-6-sulfatase, BMN 110 drug substance
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 1-
BioMarin Pharmaceutical Inc.Not RecruitingFemale: yes
Male: yes
20Phase 2United States;Germany;United Kingdom;Italy
208EUCTR2011-002044-28-DE14/06/20123 April 2017A 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 LeukodystrophyTreatment 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
Pharmaceutical Form: Solution for injection
INN or Proposed INN: N/A
Current Sponsor code: HGT-1110
Other descriptive name: Recombinant Human Arylsulfatase A (rhASA,
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 30 -
Shire Human Genetics Therapies IncNot RecruitingFemale: yes
Male: yes
24Phase 1;Phase 2France;Brazil;Denmark;Australia;Germany;Japan
209NCT01173016May 201214 March 2016Administration 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 MinnesotaNot recruitingN/A14 YearsBoth10Phase 1United States
210NCT01602601April 9, 201216 December 2017A 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: GSK2788723GlaxoSmithKlineNot recruitingN/AN/AAll10N/AJapan
No.TrialIDDate_
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211NCT01588314April 201211 June 2019Safety 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 Minnesota - Clinical and Translational Science InstituteGenzyme, a Sanofi CompanyNot recruiting18 YearsN/AAll0Phase 2United States
212NCT01609062April 201219 October 2017Safety 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 PharmaceuticalNot recruiting7 YearsN/AAll25Phase 2United States;Canada;Germany;United Kingdom
213NCT01650779April 201219 October 2017A 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 CompanyNot recruitingN/AN/AMale15Phase 4United States
214NCT01572636March 28, 20121 October 2018Laronidase (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 MinnesotaNot recruitingN/AN/AAll20Phase 2United States
215NCT01614574March 201219 October 2017Study 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 alfaShireNot recruiting2 YearsN/AAll6Phase 3Japan
No.TrialIDDate_
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216NCT02090608March 201219 February 2015Paricalcitol in Fabry DiseaseFabry Disease;ProteinuriaDrug: ParicalcitolFederico II UniversityNot recruiting18 Years75 YearsBoth14N/AItaly
217NCT01510028February 2, 201224 June 2019Multicenter 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 AShireNot recruitingN/A12 YearsAll24Phase 1/Phase 2Australia;Denmark;France;Germany;Japan;Argentina;Brazil
218EUCTR2011-003685-32-ES27/01/201226 June 2012NAA Multicenter Extension Study of Taliglucerase alfa in Adult Subjects with Gaucher Disease - NAGaucher 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
Pharmaceutical Form: Powder and solution for solution for injection
INN or Proposed INN: Taliglucerase alfa
CAS Number: 37228-64-1
Current Sponsor code: Taliglucerase alfa
Other descriptive name: prGCD
Concentration unit: IU/ml international unit(s)/millilitre
Concentration type: up to
Concentration number: 40-
Protalix BiotherapeuticsAuthorisedFemale: yes
Male: yes
25Serbia;Canada;Mexico;Chile;Spain;Italy;South Africa;Israel
219NCT03333200January 11, 201211 November 2019Longitudinal 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 PittsburghRecruitingN/AN/AAll1500Phase 1United States
220EUCTR2011-000212-25-GB05/01/201225 June 2018An 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 ImpairmentTreatment 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
Pharmaceutical Form: Solution for injection
INN or Proposed INN: idursulfase
CAS Number: 50936-59-9
Current Sponsor code: 12S-IT
Other descriptive name: Idursulfase-IT
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 10-
Shire HGT IncAuthorisedFemale: no
Male: yes
15Phase 1;Phase 2United States;Canada;United Kingdom
No.TrialIDDate_
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221EUCTR2011-002880-42-GB05/12/201121 January 2013A 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 deficiencyGrowth 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 System Organ Class: 10027433 - Metabolism and nutrition disorders
MedDRA version: 14.0 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
Pharmaceutical Form: Solution for infusion
INN or Proposed INN: not available
CAS Number: 1276027-63-4
Current Sponsor code: SBC-102
Other descriptive name: recombinant human lysosomal acid lipase (rhLAL)
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 2-
Synageva Biopharma Corp.Not RecruitingFemale: yes
Male: yes
10United Kingdom;Germany;France;United States
222NCT02012114December 201119 February 2015A Cohort of Patients With Cystinosis : Compliance to Cysteamine and Neurological ComplicationsA Cohort of Patients With Cystinosis : Compliance to Cysteamine and Neurological ComplicationsCystinosisOther: Cysteamine bitartrateHospices Civils de LyonRecruiting4 YearsN/ABoth90N/AFrance
223EUCTR2011-003197-84-GB22/11/20117 January 2013A 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
Pharmaceutical Form: Solution for infusion
INN or Proposed INN: N/A
CAS Number: 9025-60-9
Current Sponsor code: rhGALNS
Other descriptive name: recombinant human N-acetylgalactosamine-6-sulfatase, BMN 110 drug substance
Concentration unit: mg/kg milligram(s)/kilogram
Concentration type: equal
Concentration number: 1-
BioMarin Pharmaceutical Inc.AuthorisedFemale: yes
Male: yes
15Phase 2United States;Italy;United Kingdom
224EUCTR2011-001513-13-CZ10/11/201120 August 2018A 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 deficiencyLysosomal 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
Pharmaceutical Form: Solution for infusion
INN or Proposed INN: sebelipase alfa
CAS Number: 1276027-63-4
Current Sponsor code: SBC-102
Other descriptive name: recombinant human lysosomal acid lipase (rhLAL), esterase, cholesterol (human gene LIPA), lysosomal acid lipase (human gene LIPA)
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 2-
Synageva Biopharma Corp.Not RecruitingFemale: yes
Male: yes
9Phase 2United Kingdom;Czech Republic;France;United States
225NCT01473875November 201116 December 2017Children 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 PharmaceuticalsNot recruitingN/AN/AAll10Phase 2/Phase 3France;United Kingdom
No.TrialIDDate_
enrollement
Last_Refreshed_
on
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
226NCT01476163November 20114 February 2019Physician 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 TherapeuticsNot recruiting16 Years74 YearsAllN/AUnited States;Australia
227NCT01488097November 201116 December 2017Extension 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 DeficiencyDrug: SBC-102 (sebelipase alfa)Alexion PharmaceuticalsNot recruiting18 Years65 YearsAll8Phase 2United States;Canada;Czech Republic;France;United Kingdom
228EUCTR2011-001513-13-GB24/10/201130 April 2019A 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 deficiencyLysosomal 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 System Organ Class: 10027433 - Metabolism and nutrition disorders
MedDRA version: 14.1 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
Pharmaceutical Form: Solution for infusion
INN or Proposed INN: NA
CAS Number: 1276027-63-4
Current Sponsor code: SBC-102
Other descriptive name: recombinant human lysosomal acid lipase (rhLAL), esterase, cholesterol (human gene LIPA)
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 2-
Synageva Biopharma Corp.Not Recruiting Female: yes
Male: yes
9Phase 2France;United States;Czech Republic;United Kingdom
229NCT01458119October 14, 20119 October 2018Open-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 TherapeuticsNot recruiting16 YearsN/AAll85Phase 3United States;Argentina;Australia;Belgium;Brazil;Canada;Denmark;Egypt;France;Italy;Spain;Turkey;United Kingdom;Austria;Japan
230NCT01489995October 201119 February 2015Migalastat 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 TherapeuticsNot recruiting18 Years65 YearsBoth20Phase 1United States
No.TrialIDDate_
enrollement
Last_Refreshed_
on
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
231NCT01515956October 201116 December 2017Study 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 PharmaceuticalNot recruitingN/A5 YearsAll15Phase 2United States;Italy;Taiwan;United Kingdom
232NCT01411228September 201117 September 2018A 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 alfaPfizerNot recruiting2 Years18 YearsAll15Phase 3Israel;Paraguay;South Africa
233NCT01432561September 201119 October 2017Study 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.Not recruiting18 YearsN/AAll8N/AUnited States
234NCT01853852September 201119 February 2015A 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 TherapeuticsNot recruiting20 Years55 YearsBoth14Phase 1Australia
235NCT02770625September 201116 December 2017Phase 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.Not recruiting2 YearsN/AAll8Phase 3
No.TrialIDDate_
enrollement
Last_Refreshed_
on
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
236NCT01298141August 10, 201111 June 2018A 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 alfaShireNot recruitingN/AN/AAll171Phase 3Canada
237NCT01422187August 201119 October 2017A 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 alfaProtalixNot recruiting18 YearsN/AAll19Phase 3
238NCT01730469August 201116 December 2017Safety 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 TherapeuticsNot recruiting18 Years75 YearsAll32Phase 1United States
239NCT01730482August 201119 February 2015A 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 TherapeuticsNot recruiting30 Years55 YearsMale6Phase 1
240NCT01399047July 201119 October 2017Cellcept 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)Not recruiting6 Years25 YearsAll19Phase 2United States
No.TrialIDDate_
enrollement
Last_Refreshed_
on
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
241NCT01427517July 201111 November 2019Intravenous 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)Not recruiting18 YearsN/AAll9Phase 1United States
242EUCTR2010-020199-45-GB08/06/20117 January 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)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
Pharmaceutical Form: Solution for infusion
INN or Proposed INN: Not Available
CAS Number: 9025-60-9
Current Sponsor code: rhGALNS
Other descriptive name: recombinant human N-acetylgalactosamine-6-sulfatase, BMN 110 drug substance
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 1-
Pharmaceutical form of the placebo: Solution for infusion
Route of administration of the placebo: Intravenous use
BioMarin Pharmaceutical Inc.AuthorisedFemale: yes
Male: yes
162Phase 3Portugal;United States;Qatar;Saudi Arabia;Taiwan;Colombia;Italy;United Kingdom;Switzerland;France;Canada;Argentina;Poland;Brazil;Denmark;Australia;Netherlands;Germany;Norway;Japan;Korea, Republic of
243NCT01363492May 201119 October 2017Safety 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)ShireNot recruiting7 Years17 YearsAll15Phase 2United States
244EUCTR2011-000032-28-GB18/04/201110 September 2018A 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 DeficiencyGrowth 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 System Organ Class: 10027433 - Metabolism and nutrition disorders
MedDRA version: 14.1 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
Pharmaceutical Form: Solution for infusion
INN or Proposed INN: not available
CAS Number: 1276027-63-4
Current Sponsor code: SBC-102
Other descriptive name: recombinant human lysosomal acid lipase (rhLAL)
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 2-
Synageva Biopharma Corp.Not RecruitingFemale: yes
Male: yes
10Phase 1;Phase 2;Phase 3France;United States;Taiwan;Ireland;Germany;Italy;United Kingdom
245NCT01372228April 201130 September 2019Phase 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 infusionUniversity of LouisvilleDuke UniversityNot recruitingN/AN/AAll30Phase 1/Phase 2United States
No.TrialIDDate_
enrollement
Last_Refreshed_
on
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
246EUCTR2010-024068-16-GB08/03/201118 September 2012SBC-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 deficiencyLysosomal 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 System Organ Class: 10027433 - Metabolism and nutrition disorders
MedDRA version: 14.0 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
Pharmaceutical Form: Solution for infusion
INN or Proposed INN: not available
Current Sponsor code: SBC-102
Other descriptive name: recombinant human lysosomal acid lipase (rhLAL)
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 2-
Synageva Biopharma Corp.Not RecruitingFemale: yes
Male: yes
9Czech Republic;United Kingdom
247NCT01304277March 201119 October 2017This 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 alfaShireNot recruiting18 Years65 YearsMale17Phase 2Canada
248NCT01614431March 201119 February 2015N 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 PauloNot recruiting1 Year18 YearsBoth23Phase 4
249EUCTR2010-021348-16-GB09/02/201127 February 2017Extension 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
Pharmaceutical Form: Solution for injection
INN or Proposed INN: Not available
Current Sponsor code: HGT-1410
Other descriptive name: Recombinant human heparan N-sulfatase
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 15-
Shire Human Genetic Therapies, IncAuthorisedFemale: yes
Male: yes
7Phase 1;Phase 2United Kingdom
250NCT01196871February 201119 February 2015Drug-Drug Interaction Study Between AT1001 and Agalsidase in Subjects With Fabry DiseaseAn Open-label Phase 2A Study to Investigate Drug-Drug Interactions Between AT1001 and Agalsidase in Subjects With Fabry Disease.Fabry DiseaseDrug: AT1001Amicus TherapeuticsNot recruiting18 Years65 YearsMale21Phase 2United States;Australia;Belgium;Canada;Netherlands;France;United Kingdom
No.TrialIDDate_
enrollement
Last_Refreshed_
on
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
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agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
251NCT01161914January 20115 September 2016The 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.Not recruiting2 Years75 YearsBoth0Phase 3
252EUCTR2010-020198-18-GB30/12/20105 November 2012A 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
Pharmaceutical Form: Solution for infusion
INN or Proposed INN: N/A
CAS Number: 9025-60-9
Current Sponsor code: rhGALNS
Other descriptive name: recombinant human N-acetylgalactosamine-6-sulfatase, BMN 110 drug substance
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 1-
Pharmaceutical form of the placebo: Solution for infusion
Route of administration of the placebo: Intravenous use
BioMarin Pharmaceutical IncNot 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
253NCT01218659December 20103 August 2015Study 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 TherapeuticsNot recruiting16 Years74 YearsBoth60Phase 3United States;Argentina;Australia;Austria;Belgium;Brazil;Denmark;France;Germany;Italy;Japan;Switzerland;Turkey;United Kingdom;Greece;Poland;Taiwan
254NCT01238315November 201019 February 2015Safety 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.Not recruiting6 Months6 YearsBoth0Phase 1United States
255EUCTR2010-021048-16-GB07/10/201024 February 2014A 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
Pharmaceutical Form: Solution for infusion
INN or Proposed INN: Not available
CAS Number: 9025-60-9
Current Sponsor code: rhGALNS
Other descriptive name: recombinant human N-acetylgalactosamine-6-sulfatase, BMN 110 drug substance
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 1-
BioMarin Pharmaceutical Inc.AuthorisedFemale: yes
Male: yes
20United Kingdom
No.TrialIDDate_
enrollement
Last_Refreshed_
on
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
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sponsor
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Status
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agemin
Inclusion_
agemax
Inclusion_
gender
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size
PhaseCountries
256EUCTR2010-022084-36-DK05/10/201019 March 2012A 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
Pharmaceutical Form: Solution for infusion
INN or Proposed INN: recombinant human alpha-mannosidase
Current Sponsor code: rhLAMAN
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: range
Concentration number: 1,8-2,2
Zymenex A/SNot RecruitingFemale: yes
Male: yes
10Denmark
257EUCTR2010-022085-26-DK05/10/201015 July 2013A 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-mannosidosisTreatment of alpha-MannosidosisProduct Name: Lamazym
Product Code: rhLAMAN
Pharmaceutical Form: Solution for infusion
INN or Proposed INN: recombinant human alpha-mannosidase
Current Sponsor code: rhLAMAN
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: range
Concentration number: 1,8-2,2
Zymenex A/SNot RecruitingFemale: yes
Male: yes
10Denmark
258NCT00418821October 201016 December 2017A 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/AFemale10Phase 4Italy;United States
259NCT01881633October 201019 February 2015A 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.Not recruiting20 Years45 YearsMale24Phase 1
260EUCTR2010-020098-18-FR09/09/201019 March 2012CrYSTobs A cohort of patients with cystinosis : compliance to cysteamine and neurological complications An auxiliary study to Raptor RP103 03 and RP103 04 - CrYSTobsCrYSTobs A cohort of patients with cystinosis : compliance to cysteamine and neurological complications An auxiliary study to Raptor RP103 03 and RP103 04 - CrYSTobsnephropatic cystinosis
MedDRA version: 12.1 Level: LLT Classification code 10011777 Term: Cystinosis
Trade Name: CYSTAGON
Product Name: CYSTAGON
Pharmaceutical Form: Capsule*
INN or Proposed INN: MERCAPTAMINE BITARTRATE
CAS Number: 27761-19-9
Other descriptive name: CYSTEAMINE
Concentration unit: mg milligram(s)
Concentration type: equal
Concentration number: 50-150
Product Name: RP 103
Pharmaceutical Form: Capsule*
INN or Proposed INN: MERCAPTAMINE BITARTRATE
CAS Number: 27761-19-9
Other descriptive name: CYSTEAMINE
Concentration unit: mg milligram(s)
Concentration type: equal
Concentration number: 25-
Product Name: RP 103
Pharmaceutical Form: Capsule*
INN or Proposed INN: MERCAPTAMINE BITARTRATE
CAS Number: 27761-19-9
Other descriptive name: CYSTEAMINE
Concentration unit: mg milligram(s)
Concentration type: equal
Concentration number: 75-
HOSPICES CIVILS DE LYONAuthorisedFemale: yes
Male: yes
France
No.TrialIDDate_
enrollement
Last_Refreshed_
on
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
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Status
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agemin
Inclusion_
agemax
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Target_
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PhaseCountries
261EUCTR2009-017882-42-FR12/08/201021 August 2017A 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 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 CystinosisCystinosis
MedDRA version: 12.1 Level: LLT Classification code 10011777 Term: Cystinosis
Product Name: Cysteamine bitartrate (INN: mercaptamine bitartrate )
Product Code: RP103
Pharmaceutical Form: Capsule, hard
INN or Proposed INN: mercaptamine bitartrate
CAS Number: CAS 27761-19
Current Sponsor code: RP103
Concentration unit: mg milligram(s)
Concentration type: equal
Concentration number: 75-
INN or Proposed INN: mercaptamine bitartrate
CAS Number: CAS 27761-19
Current Sponsor code: RP103
Concentration unit: mg milligram(s)
Concentration type: equal
Concentration number: 25-
Trade Name: Cystagon
Pharmaceutical Form: Capsule, hard
Raptor Therapeutics Inc.Not RecruitingFemale: yes
Male: yes
Phase 3France;Netherlands
262NCT01506141August 1, 20106 May 2019Extension 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: ElapraseShireNot recruiting3 Years18 YearsMale20Phase 1/Phase 2United States;Canada;United Kingdom
263NCT01161576August 201029 April 2019Safety 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)Not recruiting2 Years18 YearsAll25Phase 1United States
264NCT01165697July 201016 December 2017Establishment of Biomarkers for Fabry DiseaseEstablishment of Biomarkers for Fabry DiseaseFabry DiseaseOther: Fluorescein angiographyOhio State UniversityGenzyme, a Sanofi CompanyNot recruiting18 YearsN/AAll4N/AUnited States
265NCT01000961June 201016 December 2017Phase 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.Not recruiting6 YearsN/AAll43Phase 3United States;France;Netherlands
No.TrialIDDate_
enrollement
Last_Refreshed_
on
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
266NCT01074944June 201019 October 2017A 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 CompanyNot recruiting18 YearsN/AAll170Phase 3United States;Australia;Austria;Brazil;Canada;China;Croatia;France;Greece;India;Japan;Netherlands;Portugal;Romania;Russian Federation;Serbia;Sweden
267NCT01301898May 201019 February 2015To 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 CorporationNot recruiting6 Years35 YearsMale31Phase 1/Phase 2Korea, Republic of
268NCT01414985April 15, 201028 January 2019AAVRh.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 UniversityNot recruiting3 Years18 YearsAll8Phase 1/Phase 2United States
269NCT01136304April 20108 June 2015Validating 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 PittsburghNot recruiting18 YearsN/ABoth173N/AUnited States
270JPRN-jRCTs06118009016/03/201022 July 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 AmbroxolNeuronopathic 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.Yoshihiro MaegakiNot RecruitingBoth25Phase 2none
No.TrialIDDate_
enrollement
Last_Refreshed_
on
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
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sponsor
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agemin
Inclusion_
agemax
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gender
Target_
size
PhaseCountries
271EUCTR2009-017349-77-IT15/03/201019 March 2012A 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-MLDmetachromatic leukodystrophy
MedDRA version: 9.1 Level: PT Classification code 10024381
Product Name: autologous CD34+ cells transduced with a lentiviral vector encoding the ARSA cDNA
Pharmaceutical Form: Suspension for injection
Current Sponsor code: autologous CD34+ cells transduced with a lentiviral vector encoding the ARSA cDNA
Concentration unit: % percent
Concentration type: equal
Concentration number: 100-
Trade Name: BUSILVEX
Pharmaceutical Form: Solution for infusion
INN or Proposed INN: Busulfan
Concentration unit: mg/kg milligram(s)/kilogram
Concentration type: equal
Concentration number: 1-
FONDAZIONE CENTRO S. RAFFAELE DEL MONTE TABORAuthorisedFemale: yes
Male: yes
Phase 1/2Italy
272EUCTR2009-015985-75-PL03/02/201019 August 2013Follow 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 DiseaseFabry 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
Pharmaceutical Form: Solution for infusion
INN or Proposed INN: AGALSIDASE ALFA
CAS Number: 104138-64-9
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 1-
Shire Human Genetic Therapies (HGT), Inc.Not RecruitingFemale: yes
Male: yes
43United States;Czech Republic;Slovenia;Paraguay;Finland;Poland;Australia;United Kingdom
273EUCTR2010-018365-34-FR2 October 2017A 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 - RP103-04Cystinosis
MedDRA version: 12.1 Level: LLT Classification code 10011777 Term: Cystinosis
Product Name: Cysteamine bitartrate (INN: mercaptamine bitartrate )
Product Code: RP103
Pharmaceutical Form: Capsule, hard
INN or Proposed INN: mercaptamine bitartrate
CAS Number: CAS 27761-19
Current Sponsor code: RP103
Concentration unit: mg milligram(s)
Concentration type: equal
Concentration number: 25, 75-
Raptor Therapeutics Inc.Not AvailableFemale: yes
Male: yes
20Phase 3France;Netherlands
274EUCTR2010-019962-10-FR19 May 2014AN 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 syndromeSanfilippo 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
Pharmaceutical Form: Solution for injection
SANFILIPPO Therapeutics SASNot RecruitingFemale: yes
Male: yes
4Phase 1/2France
275NCT01043640December 200916 December 2017Allogeneic 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 MinnesotaNot recruitingN/A21 YearsAll46Phase 2United States
No.TrialIDDate_
enrollement
Last_Refreshed_
on
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
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Status
Inclusion_
agemin
Inclusion_
agemax
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gender
Target_
size
PhaseCountries
276EUCTR2008-005223-28-NL04/11/200928 August 2012A 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 - ENCOREGaucher Disease type I
MedDRA version: 9.1 Level: PT Classification code 10018048 Term: Gaucher's disease
Product Name: Genz-112638
Product Code: Genz-112638
Pharmaceutical Form: Capsule, hard
INN or Proposed INN: Eliglustat
CAS Number: NA
Current Sponsor code: Genz-112638
Other descriptive name: not available
Concentration unit: mg milligram(s)
Concentration type: up to
Concentration number: 150-
Trade Name: Cerezyme
Product Name: Cerezyme
Product Code: Imiglucerase
Pharmaceutical Form: Powder for concentrate for solution for infusion
INN or Proposed INN: IMIGLUCERASE
CAS Number: 154248-97-2
Other descriptive name: Recombinant human derived macrophage-targeted ß-Glucocerebrosidase
Concentration unit: U unit(s)
Concentration type: up to
Concentration number: 60 -
Genzyme Europe B.V.AuthorisedFemale: yes
Male: yes
186Phase 3Czech Republic;Germany;United Kingdom;Netherlands;France;Spain;Italy
277NCT00891202November 200916 December 2017A 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 CompanyNot recruiting16 YearsN/AAll40Phase 3United States;Bulgaria;Canada;Colombia;India;Israel;Lebanon;Mexico;Russian Federation;Serbia;Tunisia;United Kingdom;Chile;Georgia;Jordan;Netherlands;Saudi Arabia
278NCT00920647November 200919 October 2017A 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)ShireNot recruiting3 Years18 YearsMale16Phase 1/Phase 2United States;United Kingdom
279NCT01031173September 200919 February 2015Treatment 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 alfaShireNot recruitingN/AN/ABothN/AUnited States
280NCT00925301August 200919 February 2015Study 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 TherapeuticsNot recruiting16 Years74 YearsBoth67Phase 3United States;Argentina;Australia;Belgium;Brazil;Canada;Denmark;Egypt;France;Germany;Italy;Netherlands;Poland;South Africa;Spain;Turkey;United Kingdom;Chile;Israel
No.TrialIDDate_
enrollement
Last_Refreshed_
on
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
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agemin
Inclusion_
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Inclusion_
gender
Target_
size
PhaseCountries
281NCT00954460August 200919 February 2015Treatment 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 alfaShireNot recruiting3 YearsN/ABothN/AUnited States
282NCT00975689August 200919 October 2017Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl CysteineBiomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl CysteineNiemann-Pick Disease, Type CDrug: N-Acetyl CysteineEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)University of Oxford;Washington University School of Medicine;National Human Genome Research Institute (NHGRI)Not recruiting12 MonthsN/AAll35Phase 1/Phase 2United States
283NCT01102686August 200919 February 2015Pyrimethamine 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 ChildrenNot recruiting17 YearsN/ABoth20Phase 1/Phase 2Canada
284NCT00852358June 20091 February 2016A 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 AngelesNot recruiting6 YearsN/ABoth9N/AUnited States
285NCT00813865May 11, 200920 August 2018A 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 TherapeuticsNot recruiting18 YearsN/AAll8Phase 2United States;United Kingdom;Paraguay
No.TrialIDDate_
enrollement
Last_Refreshed_
on
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
286EUCTR2007-001838-13-GB05/05/200920 March 2012Long-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 DiseaseFabry 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
Pharmaceutical Form: Capsule, hard
INN or Proposed INN: migalastat hydrochloride
CAS Number: 75172-81-5
Current Sponsor code: AT1001
Other descriptive name: 1-deoxygalactonojirimycin hydrochloride
Concentration unit: mg milligram(s)
Concentration type: equal
Concentration number: 150-
Product Name: Reminder capsules
Pharmaceutical Form: Capsule, hard
INN or Proposed INN: Not applicable
Concentration unit: mg milligram(s)
Concentration type: equal
Concentration number: 0-
Amicus Therapeutics, Inc.AuthorisedFemale: yes
Male: yes
30United Kingdom;United States;Brazil;Australia
287NCT00872729May 200916 December 2017Pilot 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.Not recruitingN/AN/AAll9Phase 1/Phase 2United States
288NCT00875160April 200919 February 2015A 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 TherapeuticsNot recruiting18 Years65 YearsBoth1Phase 1United States;United Kingdom
289NCT00884949April 200919 October 2017A 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 PharmaceuticalNot recruiting5 Years18 YearsAll20Phase 1/Phase 2United Kingdom
290EUCTR2008-007365-23-GB12/03/200919 March 2012A 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
Pharmaceutical Form: Solution for infusion
INN or Proposed INN: N/A
CAS Number: N/A
Current Sponsor code: rhGALNS
Other descriptive name: recombinant human N-acetylgalactosamine 6-sulfatase, BMN 110 drug substance
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 1-
BioMarin Pharmaceutical Inc.Not RecruitingFemale: yes
Male: yes
Phase 1/2United Kingdom
No.TrialIDDate_
enrollement
Last_Refreshed_
on
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
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sponsor
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Status
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agemin
Inclusion_
agemax
Inclusion_
gender
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PhaseCountries
291EUCTR2008-007158-36-GB25/02/200919 March 2012An 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
Pharmaceutical Form: Capsule*
INN or Proposed INN: afegostat tartrate
CAS Number: 919364-56-0
Current Sponsor code: AT2101
Concentration unit: mg milligram(s)
Concentration type: equal
Concentration number: 25-
Amicus Therapeutics, Inc.Not RecruitingFemale: yes
Male: yes
16United Kingdom
292EUCTR2007-005516-61-IT06/02/200919 March 2012Multicenter 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 - NDGAUCHER disease
MedDRA version: 9.1 Level: LLT Classification code 10018048 Term: Gaucher's disease
Trade Name: CEREZYME
Pharmaceutical Form: Powder and solvent for solution for infusion
INN or Proposed INN: Imiglucerase
Concentration unit: U unit(s)
Concentration type: equal
Concentration number: 200-
Trade Name: ZAVESCA
Pharmaceutical Form: Capsule, hard
INN or Proposed INN: Miglustat
Concentration unit: mg milligram(s)
Concentration type: equal
Concentration number: 100-
ISTITUTO GIANNINA GASLININot RecruitingFemale: yes
Male: yes
Italy
293NCT01858103January 200919 February 2015BMN 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 PharmaceuticalNot recruitingN/AN/ABothN/AUnited States;Puerto Rico
294NCT00712348December 200819 October 2017Switchover 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 alfaProtalixNot recruiting2 YearsN/AAll31Phase 3United States;Australia;Canada;Israel;Spain;United Kingdom;Serbia
295NCT00748969November 200816 December 2017Clinical 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)Los Angeles Biomedical Research InstituteNot recruiting5 Years17 YearsAll2Phase 2/Phase 3United States
No.TrialIDDate_
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Public_titleScientific_titleConditionInterventionPrimary_
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PhaseCountries
296NCT00744692October 200819 October 2017Reduced 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 UniversityNot recruitingN/A21 YearsAll22Phase 1United States
297NCT00882921October 200819 October 2017An 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: IdursulfaseShireNot recruiting5 YearsN/AMale26N/AUnited States;Brazil;United Kingdom
298NCT01303146October 200819 February 2015Efficacy 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;ShireNot recruiting6 MonthsN/ABoth1Phase 2France
299NCT00741338September 200819 October 2017Immune 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 LLCNot recruitingN/A5 YearsAll7Phase 1/Phase 2Brazil;Russian Federation;Ukraine
300EUCTR2007-005668-28-GB29/07/20084 August 2015A 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
Pharmaceutical Form: Powder for concentrate for solution for infusion
INN or Proposed INN: agalsidase beta
CAS Number: 104138-64-9
Current Sponsor code: r-h-alpha-GAL
Other descriptive name: recombinant human alpha-galactosidase
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 5 after reconstit-
Genzyme Europe BVNot RecruitingFemale: no
Male: yes
35Phase 3BFrance;Portugal;United States;Czech Republic;Canada;Argentina;Brazil;Poland;Germany;Netherlands;Norway;United Kingdom
No.TrialIDDate_
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301EUCTR2007-005543-22-CZ19/06/20084 February 2013An investigation of 3 dosages of Replagal in adult patients 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 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
Pharmaceutical Form: Solution for infusion
INN or Proposed INN: agalsidase alpha
Other descriptive name: Replagal
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 1-
Shire Human Genetic Therapies, Inc. (Shire HGT)Not RecruitingFemale: yes
Male: yes
43United States;Czech Republic;Slovenia;Paraguay;Finland;Australia;United Kingdom
302NCT00446550June 11, 200820 August 2018A 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 TherapeuticsNot recruiting18 Years74 YearsAll19Phase 2United States;Israel;South Africa;United Kingdom;Germany
303NCT00705939June 200819 October 2017Plant 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 alfaProtalixNot recruiting18 YearsN/AAll45Phase 3United States;Australia;Canada;Chile;Israel;South Africa;Spain;United Kingdom
304EUCTR2007-007164-20-ES20/05/20081 May 2012Uso 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 1Tratamiento de la enfermedad de Gaucher
MedDRA version: 9.1 Level: LLT Classification code 10018048 Term: Gaucher's disease
Trade Name: CEREZYME
Pharmaceutical Form: Intravenous infusion
INN or Proposed INN: IMIGLUCERASA
Concentration unit: U/ml unit(s)/millilitre
Concentration type: equal
Concentration number: 40-
Trade Name: MIGLUSTAT (ZAVESCA)
Pharmaceutical Form: Oral drops*
INN or Proposed INN: MIGLUSTAT
Concentration unit: mg milligram(s)
Concentration type: equal
Concentration number: 100-
INSTITUTO ARAGONÉS DE CIENCIAS DE LA SALUDNot RecruitingFemale: yes
Male: yes
Spain
305EUCTR2008-000084-41-DK15/05/200822 April 2013A 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
Pharmaceutical Form: Injection*
INN or Proposed INN: Not available
CAS Number: NA
Current Sponsor code: HGT-1111
Other descriptive name: recombinant human arylsulfatase A
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: range
Concentration number: 4.6-5.6
Shire Human Genetic Therapies IncNot RecruitingFemale: yes
Male: yes
France;Belgium;Denmark;Italy
No.TrialIDDate_
enrollement
Last_Refreshed_
on
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306EUCTR2007-000498-42-GB08/05/200818 April 2012A 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 - NAGaucher disease
MedDRA version: 9.1 Level: PT Classification code 10018048 Term: Gaucher's disease
Product Name: recombinant human glucocerebrosidase
Product Code: prGCD
Pharmaceutical Form: Powder for solution for infusion
Current Sponsor code: prGCD
Other descriptive name: recombinant human glucocerebrosidase
Concentration unit: U unit(s)
Concentration type: equal
Concentration number: 200-
Product Name: recombinant human glucocerebrosidase
Product Code: prGCD
Pharmaceutical Form: Powder for solution for infusion
Current Sponsor code: prGCD
Other descriptive name: recombinant human glucocerebrosidase
Concentration unit: U unit(s)
Concentration type: equal
Concentration number: 200-
Protalix BiotherapeuticsAuthorisedFemale: yes
Male: yes
30Phase 3United Kingdom;Spain;Italy
307NCT00635427May 200819 October 2017An 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®ShireNot recruiting2 YearsN/AAll95Phase 3United States;Argentina;India;Israel;Korea, Republic of;Paraguay;Poland;Russian Federation;Spain;Tunisia;United Kingdom
308NCT00679744May 200819 February 2015A 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 ChildrenNot recruiting18 YearsN/ABoth0Phase 1United States;Canada
309NCT00668564March 200819 October 2017Hematopoietic 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 MinnesotaNot recruitingN/A21 YearsAll18Phase 2United States
310EUCTR2007-007165-20-DK26/02/20083 April 2017A 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 functionMetachromatic Leukodystrophy (MLD) in late infantile patients
MedDRA version: 9.1 Level: LLT Classification code 10024381 Term: Leukodystrophy
Product Name: Metazym
Product Code: rhASA
Pharmaceutical Form: Injection*
Current Sponsor code: rhASA
Other descriptive name: recombinant human arylsulfatase A
Concentration unit: U unit(s)
Concentration type: up to
Concentration number: 200-
Shire Pharmaceuticals Ireland LimitedAuthorisedFemale: yes
Male: yes
Phase 2Denmark
No.TrialIDDate_
enrollement
Last_Refreshed_
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311EUCTR2007-006024-35-FR04/02/200823 December 2013Adaptive 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 studyNephropathic 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
Pharmaceutical Form: Eye drops*
INN or Proposed INN: cysteamine hydrochloride
CAS Number: 156-57-0
Other descriptive name: mercaptamine, mercamine, 2-aminoethanethiol
Concentration unit: % percent
Concentration type: equal
Concentration number: 0.55-
Orphan Europe SARLNot RecruitingFemale: yes
Male: yes
France
312NCT00638547January 2, 200818 December 2018Intrathecal Enzyme Replacement for Hurler SyndromeIntrathecal Enzyme Replacement Therapy For Patients With Mucopolysaccharidosis Type I (Hurler Syndrome)Hurler SyndromeDrug: IRT LaronidaseMasonic Cancer Center, University of MinnesotaNot recruiting6 Months3 YearsAll26Phase 1United States
313NCT00786968January 200819 February 2015Extension 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 ChildrenNot recruiting8 YearsN/ABoth3Phase 1United States;Finland
314NCT01760564January 200819 February 2015Application 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 HospitalNot recruitingN/AN/ABoth5Phase 3Taiwan
315EUCTR2007-003359-35-GB19/12/200719 March 2012A 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 DISEASEType 1 Gaucher DiseaseProduct Name: Isofagamine tartrate
Product Code: AT2101
Pharmaceutical Form: Capsule, hard
Amicus Therapeutics, Inc.Not RecruitingFemale: yes
Male: yes
16Germany;United Kingdom
No.TrialIDDate_
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316NCT00607386December 200719 October 2017Safety 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 SciencesNot recruitingN/A5 YearsMale28Phase 4Brazil;Poland;Taiwan
317EUCTR2007-002840-21-ES30/10/200719 March 2012A 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 Estudio 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 Disease Estudio 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 - GCB039Type I Gaucher disease Enfermedad 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
Pharmaceutical Form: Powder for infusion*
Current Sponsor code: GA-GCB
Other descriptive name: Gene activated human glucocerebrosidase
Concentration unit: IU/ml international unit(s)/millilitre
Concentration type: equal
Concentration number: 100-
Trade Name: Cerezyme
Pharmaceutical Form: Powder for infusion*
INN or Proposed INN: IMIGLUCERASE
CAS Number: 154248972
Shire Human Genetic Therapies IncAuthorisedFemale: yes
Male: yes
32United Kingdom;Spain;Italy
318NCT00526071September 17, 20079 October 2018Open-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 TherapeuticsNot recruiting18 YearsN/AAll23Phase 2United States;Australia;Brazil;France;United Kingdom
319NCT00376168August 200719 October 2017A 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)ProtalixNot recruiting18 YearsN/AAll32Phase 3United States;Canada;Chile;Israel;Italy;South Africa;Spain;United Kingdom
320EUCTR2006-006304-11-GB03/07/20073 April 2012A 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 - TKT034Type 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
Pharmaceutical Form: Powder for solution for infusion
Current Sponsor code: GA-GCB
Other descriptive name: Gene activated human glucocerebrosidase
Concentration unit: IU/ml international unit(s)/millilitre
Concentration type: equal
Concentration number: 100-
Shire Human Genetic Therapies IncAuthorisedFemale: yes
Male: yes
40United Kingdom;Spain;Italy
No.TrialIDDate_
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321EUCTR2007-001453-26-NL02/07/200719 March 2012Natural 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 Level: LLT Classification code 10056886 Term: Mucopolysaccharidosis I
MedDRA version: 12.0 Level: PT Classification code 10056889 Term: Mucopolysaccharidosis II
Trade Name: Elaprase
Product Name: idursulfase
Pharmaceutical Form: Concentrate for solution for infusion
INN or Proposed INN: IDURSULFASE
CAS Number: 50936-59-9
Other descriptive name: Elaprase
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 2-
Trade Name: Naglazyme
Product Name: Naglazyme
Pharmaceutical Form: Concentrate for solution for infusion
INN or Proposed INN: GALSULFASE
CAS Number: 552858-79-4
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 1-
Trade Name: Aldurazyme
Product Name: Aldurazyme
Pharmaceutical Form: Concentrate for solution for infusion
INN or Proposed INN: LARONIDASE
CAS Number: 210589-09-6
Other descriptive name: Aldurazyme
Concentration unit: IU/ml international unit(s)/millilitre
Concentration type: equal
Concentration number: 100-
AuthorisedFemale: yes
Male: yes
50Netherlands
322NCT00683189June 200719 February 2015Effect of Warfarin in the Treatment of Metachromatic LeukodystrophyEffect of Warfarin in the Treatment of Metachromatic LeukodystrophyMetachromatic LeukodystrophyDrug: WarfarinThe Cooper Health SystemNot recruiting1 Year10 YearsBoth10N/AUnited States
323EUCTR2005-003512-30-FR05/04/200719 March 2012A 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/AMucopolysaccharidosis Type VI (MPS VI; Maroteaux-Lamy Syndrome)
MedDRA version: 6.0 Level: PT Classification code 10056892
Trade Name: Naglazyme
Product Name: Naglazyme
Pharmaceutical Form: Concentrate for solution for infusion
INN or Proposed INN: galsulfase
CAS Number: 552858-79-4
Other descriptive name: recombinant human Arysulfatase B, recombinant human N-acetylgalactosamine 4-sulfatase
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 1.0-
BioMarin Pharmaceutical Inc.AuthorisedFemale: yes
Male: yes
4Phase 4Portugal;France
324EUCTR2006-005216-27-FI26/03/200719 March 2012Selkäytimeen 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 IMucopolysaccharidosis 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
Pharmaceutical Form:
Other descriptive name: LARONIDASE
HUS, Hospital for Children and AdolescentsAuthorisedFemale: yes
Male: yes
10Finland
325NCT00433147March 23, 200720 August 2018A 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 TherapeuticsNot recruiting18 Years74 YearsAll30Phase 2United States
No.TrialIDDate_
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326NCT00446862March 200719 February 2015The 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 BirminghamNot recruiting19 Years85 YearsBoth36N/AUnited States;Slovenia;Germany
327NCT00430625January 200719 October 2017A 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 ®,ShireNot recruiting2 YearsN/AAll25Phase 3Argentina;Israel;Paraguay;Russian Federation;Tunisia;United States
328EUCTR2006-005341-11-DK28/12/200619 March 2012A 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
Pharmaceutical Form: Injection*
INN or Proposed INN: Arylsulfatase A
Current Sponsor code: rhASA
Other descriptive name: Metazym
Concentration unit: IU/ml international unit(s)/millilitre
Concentration type: not less then
Concentration number: 125-
Shire Pharmaceuticals Ireland LimitedNot RecruitingFemale: yes
Male: yes
12Denmark
329EUCTR2006-004661-34-FR08/12/200619 March 2012Evaluation 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 2006Mucopolysaccharidose de type III
MedDRA version: 8.1 Level: LLT Classification code 10056890 Term: Mucopolysaccharidosis III
Trade Name: ZAVESCA
Product Name: ZAVESCA
Pharmaceutical Form: Capsule, hard
INN or Proposed INN: miglustat
Other descriptive name: MIGLUSTAT
Concentration unit: mg/g milligram(s)/gram
Concentration type: equal
Concentration number: 100-
Pharmaceutical form of the placebo: Capsule, hard
Route of administration of the placebo: Oral use
HOSPICES CIVILS DE LYONAuthorisedFemale: yes
Male: yes
24Phase 2bFrance
330NCT00410566December 200630 March 2015Safety 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 CompanyNot recruiting18 Years65 YearsBoth11Phase 1United States
No.TrialIDDate_
enrollement
Last_Refreshed_
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331EUCTR2006-005842-35-IT22/11/20063 April 2012Efficacy 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. - NDNIEMANN-PICK DISEASE TYPE C
MedDRA version: 9.1 Level: LLT Classification code 10029403
Trade Name: ZAVESCA
Pharmaceutical Form: Capsule, hard
INN or Proposed INN: Miglustat
Concentration unit: mg milligram(s)
Concentration type: equal
Concentration number: 100-
Dipartimento di Pediatria Universita` di Napoli Federico IIAuthorisedFemale: yes
Male: yes
Italy
332NCT00304512September 7, 20069 October 2018A 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 TherapeuticsNot recruiting18 Years65 YearsFemale9Phase 2United States;Australia;Brazil;Canada;France;United Kingdom
333NCT00383448September 200622 July 2019HSCT 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 MinnesotaNot recruitingN/A70 YearsAll38Phase 2United States
334NCT00358150June 200619 October 2017A 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 CompanyNot recruiting18 Years65 YearsAll26Phase 2United States;Argentina;Israel;Italy;Mexico;Russian Federation
335NCT00230607May 28, 200616 December 2017Study 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 CompanyRecruitingN/AN/AAll20Phase 4United States;Austria;United Kingdom
No.TrialIDDate_
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336NCT00299000May 200619 October 2017A 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 PharmaceuticalNot recruitingN/A1 YearAll4Phase 4United States;France;Portugal
337NCT00337636May 200619 February 2015Study 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.Not recruiting18 Months12 YearsBoth6Phase 1United States
338NCT00312767April 200619 February 2015A 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 CompanyNot recruiting18 Years65 YearsBoth0Phase 4United States
339EUCTR2006-000181-36-GB17/03/200619 March 2012A 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 DiseaseFabry disease
MedDRA version: 8.1 Level: LLT Classification code 10016016
Product Name: 1-deoxygalactonojirimycin hydrochloride
Product Code: AT1001
Pharmaceutical Form: Capsule, hard
INN or Proposed INN: migalastat hydrochloride
CAS Number: 75172-81-5
Current Sponsor code: AT1001
Concentration unit: mg milligram(s)
Concentration type: equal
Concentration number: 25-
Amicus Therapeutics, Inc.AuthorisedFemale: yes
Male: no
12Phase 2United Kingdom
340NCT00283959March 200619 February 2015A 12-Week Safety and Pharmacodynamic Study of AT1001 in Patients 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: AT1001 (migalastat hydrochloride)Amicus TherapeuticsNot recruiting18 Years65 YearsMale8Phase 2Australia;Brazil
No.TrialIDDate_
enrollement
Last_Refreshed_
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341NCT00286689February 3, 200618 December 2018Effects 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 CenterNot recruiting3 Years17 YearsAll0N/AUnited States
342NCT00319046February 200619 October 2017Oral Miglustat in Adult 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 DiseaseType 1 Gaucher DiseaseDrug: miglustatActelionNot recruiting18 YearsN/AAll42Phase 3United States;Australia;Brazil;Canada;Czech Republic;France;Germany;Hungary;Italy;Netherlands;Spain;Taiwan;United Kingdom
343NCT00283933January 200622 January 2018A 24-Week Safety and Pharmacodynamic Study of AT1001 in Patients 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: AT1001 (migalastat hydrochloride)Amicus TherapeuticsNot recruiting18 Years65 YearsMale5Phase 2Canada;France;United Kingdom
344EUCTR2005-004384-33-GB19/12/200518 April 2012A 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 DiseaseFabry Disease
MedDRA version: 8.1 Level: LLT Classification code 10016016
Product Name: 1- Deoxygalactonojirimycin
Product Code: AT1001
Pharmaceutical Form: Capsule, hard
INN or Proposed INN: N/A
CAS Number: 75172-81-5
Current Sponsor code: AT1001
Other descriptive name: Migalastat hydrochloride
Concentration unit: mg milligram(s)
Concentration type: equal
Concentration number: 25-
Amicus TherapeuticsAuthorisedFemale: no
Male: yes
8Phase 2United Kingdom
345NCT00258011December 200519 October 2017Study 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 LLCNot recruitingN/AN/AAll3Phase 3Japan
No.TrialIDDate_
enrollement
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346NCT00215527November 200519 February 2015Intrathecal 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 DevelopmentNot recruiting8 YearsN/ABoth4Phase 1United States;Finland
347NCT00258778November 200519 February 2015Phase 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)ProtalixNot recruiting18 Years45 YearsBoth6Phase 1Israel
348EUCTR2005-001651-37-GB27/10/200518 September 2012A 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 DiseaseGaucher 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: 1 BACKGROUND AND RATIONALE 1.1 DiseaseTrade Name: Zavesca
Product Name: Miglustat
Product Code: OGT918
Pharmaceutical Form: Capsule, hard
INN or Proposed INN: miglustat
CAS Number: 72599-27-0
Current Sponsor code: OGT918
Concentration unit: mg milligram(s)
Concentration type: equal
Concentration number: 100-
Actelion Pharmaceuticals LtdAuthorisedFemale: yes
Male: yes
50Phase 4Hungary;Czech Republic;Germany;United Kingdom;Spain;Italy
349NCT00214500September 200525 May 2015A Study of AT1001 in Patients With Fabry DiseaseA Phase 2, Open-Label, Multicenter, Ascending-Dose, 12-Week Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AT1001 in Patients With Fabry DiseaseFabry DiseaseDrug: AT1001 (migalastat hydrochloride)Amicus TherapeuticsNot recruiting18 Years55 YearsMale14Phase 2United States
350NCT00140621July 200519 October 2017A 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 CompanyNot recruiting20 Years64 YearsAll6Phase 4Japan
No.TrialIDDate_
enrollement
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351NCT00487630June 200519 February 2015Evaluation 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 ParisRecruiting15 YearsN/AFemale34Phase 4France
352NCT00391625February 200519 October 2017Open-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-GCBShireNot recruiting18 YearsN/AAll10Phase 1/Phase 2Israel;Romania;Serbia;Former Serbia and Montenegro
353EUCTR2004-002743-27-DE23/12/200419 March 2012An 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 TherapyMucopolysaccharidosis Type II (MPS II or Hunter Syndrome)
MedDRA version: 6.1 Level: PT Classification code 10056889
Product Name: Idursulfase (I2S)
Pharmaceutical Form: Concentrate for solution for infusion
Current Sponsor code: DRX006A
Other descriptive name: Idursulfase
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 2-
Shire Human Genetic Therapies INC.Not RecruitingFemale: no
Male: yes
96United Kingdom;Germany;Spain;Italy;Sweden
354NCT00144781December 200419 October 2017A 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 LLCNot recruitingN/AN/AAll34Phase 4Brazil;Canada
355NCT00097890November 200419 February 2015Replagal 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)Not recruitingN/AN/AMale25Phase 4United States
No.TrialIDDate_
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356EUCTR2004-000772-14-CZ23/07/20047 October 2014A 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) - TKT027Fabry Disease
MedDRA version: 6.1 Level: PT Classification code 10016016
Trade Name: Replagal
Product Name: Replagal
Pharmaceutical Form: Concentrate for solution for infusion
INN or Proposed INN: agalsidase alfa
Concentration unit: mg/ml milligram(s)/millilitre
Concentration type: equal
Concentration number: 1-
TKT IncNot RecruitingFemale: no
Male: yes
20Phase 1Czech Republic
357NCT00144768July 200419 February 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 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 LLCNot recruitingN/AN/ABoth25Phase 4United States
358NCT00418847July 200430 May 2016Pharmacokinetics 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 ChildrenActelionNot recruiting6 Years20 YearsBoth5Phase 2Canada
359NCT00672022July 200419 February 2015Pharmacokinetics, 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 InstituteActelionNot recruiting6 Months5 YearsBoth10Phase 3United States
360NCT00084084June 200419 October 2017Replagal 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 alfaShireNot recruiting7 Years17 YearsAll17Phase 2United States;Canada
No.TrialIDDate_
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361NCT00151216June 200429 April 2019Safety 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 FoundationNot recruiting3 Years18 YearsAll10Phase 1United States
362NCT00233870June 200425 May 2015A 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 CompanyNot recruitingN/AN/ABoth405Phase 4Japan
363NCT00176891March 200422 July 2019Stem 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 MinnesotaNot recruitingN/A7 YearsAll25Phase 2United States
364NCT00104234February 200419 October 2017Study 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 PharmaceuticalNot recruiting7 YearsN/AAll39Phase 3United States
365NCT00075244January 200419 February 2015Alternative 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)Not recruitingN/AN/AMale25Phase 2United States
No.TrialIDDate_
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366NCT00081497January 200419 October 2017A 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 CompanyNot recruiting16 YearsN/AAll67Phase 4United States;Canada;Czech Republic;Hungary;Poland;United Kingdom
367EUCTR2004-000642-21-IE2 October 2017A 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 ExtensionMucopolysaccharidosis 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
Pharmaceutical Form: Concentrate for solution for infusion
BioMarin Pharmaceutical Inc.Not AvailableFemale: yes
Male: yes
38Phase 3Ireland
368NCT00071877October 200319 February 2015An 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)Not recruitingN/AN/ABoth25Phase 2United States
369NCT00357786October 200319 February 2015An 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)Not recruiting39 Years45 YearsMale3Phase 1United States
370NCT00067470September 200319 October 2017Study of Recombinant Human N-acetylgalactosamine 4-sulfatase (rhASB) in Patients With MPS VIMucopolysaccharidosis VIDrug: Placebo;Drug: N-acetylgalactosamine 4-sulfataseBioMarin PharmaceuticalNot recruiting7 YearsN/AAll39Phase 3United States
No.TrialIDDate_
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371NCT00068107September 200319 October 2017Dosing 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)Not recruitingN/AN/AMale13Phase 2United States
372NCT00069641September 200319 October 2017Iduronate-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: PlaceboShireNot recruiting5 Years25 YearsMale96Phase 2/Phase 3United Kingdom;Brazil;Germany;United States
373NCT00196716June 200319 October 2017A 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 CompanyNot recruiting16 YearsN/AMale21Phase 2Czech Republic;Estonia;Poland;Slovakia
374NCT00837824December 200219 October 2017Severe 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/MedinetNot recruiting16 YearsN/AAll20Phase 2United States
375NCT00048906November 200219 February 2015Alpha-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)Not recruitingN/AN/ABoth3Phase 2United States
No.TrialIDDate_
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376NCT00316498October 17, 200216 December 2017Saccadic 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)Not recruiting12 YearsN/AAll30Phase 1United States;United Kingdom
377NCT00074958October 200219 October 2017A 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 CompanyNot recruiting7 Years15 YearsAll16Phase 2United States;France;Poland;United Kingdom;Italy
378NCT00146757October 200219 October 2017A 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 LLCNot recruitingN/A5 YearsAll20Phase 2France;Germany;Netherlands;United Kingdom
379NCT00041535July 5, 200216 December 2017OGT 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)Not recruiting4 YearsN/AAll30Phase 2United States;United Kingdom
380NCT00048711March 200219 February 2015Open-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 PharmaceuticalNot recruiting5 YearsN/ABothPhase 2United States
No.TrialIDDate_
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381NCT00364858December 200119 October 2017Safety 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 CompanyNot recruiting18 YearsN/AAll95Phase 4United States;Brazil;Canada;Italy;Poland;Spain;United Kingdom
382NCT01997489September 200119 February 2015Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients.Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry PatientsFabry DiseaseDrug: Enzyme replacementRigshospitalet, DenmarkNot recruiting15 YearsN/ABoth39Phase 4Denmark
383NCT00146770May 200119 October 2017Phase 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 LLCNot recruitingN/AN/AAll45Phase 3United States;Brazil;Canada;Germany;Italy;Netherlands;United Kingdom
384NCT00028262February 200119 October 2017Cystagon 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)Not recruiting6 Months3 YearsAll10Phase 4United States
385NCT00074984February 200119 October 2017A 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 CompanyNot recruiting16 YearsN/AAll82Phase 4United States;Canada;Czech Republic;Hungary;Poland;United Kingdom
No.TrialIDDate_
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386NCT00912925December 200019 October 2017Clinical 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 LLCNot recruiting5 YearsN/AAll45Phase 3United States;Canada;Germany
387NCT00048620September 200019 February 2015Study 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 PharmaceuticalNot recruitingN/AN/ABothPhase 1United States
388NCT00010426December 19997 April 2015Randomized 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.Not recruiting1 Year50 YearsBoth30N/A
389NCT00004293November 199919 February 2015Phase II Study of Glucocerebrosidase in Patients With Gaucher DiseaseGaucher's DiseaseDrug: glucocerebrosidaseNational Center for Research Resources (NCRR)University of PittsburghRecruiting18 Years65 YearsBoth24Phase 2United States
390NCT00074971October 199919 February 2015A 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 CompanyNot recruiting16 YearsN/ABoth58Phase 3United States;France;Netherlands;Puerto Rico;United Kingdom
No.TrialIDDate_
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Last_Refreshed_
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PhaseCountries
391NCT00176917May 199919 October 2017Stem 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 MinnesotaNot recruitingN/AN/AAll41Phase 2United States
392NCT00004488October 19987 April 2015Phase 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, CincinnatiNot recruiting18 Years50 YearsBoth82Phase 2United States;Israel
393NCT00001736May 199819 February 2015New 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)Not recruitingN/AN/ABoth51Phase 1United States
394NCT00365131December 199716 March 2015A 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 CompanyNot recruiting10 Years65 YearsBoth40Phase 4United States
395NCT00176904January 199519 October 2017Stem 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 MinnesotaNot recruitingN/AN/AAll135Phase 2/Phase 3United States
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396NCT00001972September 199419 February 2015PET Scan of Brain Metabolism in Relation to Age and DiseasePositron Emission Tomography Imaging of Human Brain Phospholipid Metabolism in Relation to Age and DiseaseAlzheimer's Disease;Brain Neoplasm;Niemann Pick DiseaseDrug: 15 O WaterNational Institute of Neurological Disorders and Stroke (NINDS)Not recruitingN/AN/ABoth123N/AUnited States
397NCT00001416December 19933 October 2016Bone Response to Enzyme Replacement in Gaucher's DiseaseSkeletal Responses to Macrophage-Targeted Glucocerebrosidase in Patients With Type 1 Gaucher's DiseaseGaucher's DiseaseDrug: CEREDASE™National Institute of Neurological Disorders and Stroke (NINDS)Not recruitingN/AN/ABoth100Phase 2United States
398NCT00001410October 199319 February 2015PEG-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)Not recruitingN/AN/ABoth18Phase 1United States
399NCT00001213April 198619 October 2017Cysteamine 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)Not recruiting2 YearsN/AAll328Phase 2United States

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