19. ライソゾーム病
[臨床試験数:784,薬物数:673(DrugBank:101),標的遺伝子数:68,標的パスウェイ数:184

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: 03/15/2021. Trials are sorted by Date_enrollment from most recent to oldest in the table.

Search in Page e.g. "Phase 3", "Not recruiting", "Japan"
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
1NCT04453085
(ClinicalTrials.gov)
May 1, 20214/6/2020An Extension Study of JR-171-101 Study in Patients With MPS IAn Extension Study of JR-171-101 Study in Patients With Mucopolysaccharidosis Type IMucopolysaccharidosis IDrug: JR-171JCR Pharmaceuticals Co., Ltd.NULLNot yet recruitingN/AN/AAll15Phase 1;Phase 2NULL
2NCT04284254
(ClinicalTrials.gov)
May 202111/11/2019MT2018-18: Sleeping Beauty Transposon-Engineered Plasmablasts for Hurler Syndrome Post Allo HSCTSleeping Beauty Transposon-Engineered Plasmablasts for Expression and Delivery of Alpha-L-iduronidase in Patients With Hurler Syndrome That Have Previously Undergone Allogeneic TransplantationMucopolysaccharidosis Type IH (MPS IH, Hurler Syndrome);Mucopolysaccharidosis Type IH;MPS IH, Hurler SyndromeDrug: Autologous PlasmablastsMasonic Cancer Center, University of MinnesotaNULLNot yet recruiting3 Years8 YearsAll36Phase 1;Phase 2NULL
3NCT04573023
(ClinicalTrials.gov)
March 31, 202117/9/2020A Phase ? Study of JR-141 in Patients With Mucopolysaccharidosis IIA Phase ? Study of JR-141 in Patients With Mucopolysaccharidosis IIMucopolysaccharidosis IIDrug: JR-141;Drug: Idursulfase;Drug: JR-141 or IdursulfaseJCR Pharmaceuticals Co., Ltd.NULLNot yet recruitingN/AN/AMale50Phase 3NULL
4NCT04020055
(ClinicalTrials.gov)
March 30, 202124/6/2019A 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 TherapeuticsNULLNot yet recruiting16 YearsN/AAll12Phase 3United States;Belgium;France;Italy;Spain;United Kingdom
5NCT04637282
(ClinicalTrials.gov)
February 1, 20214/11/2020Safety, Tolerability, and Efficacy of PLX-200 in Patients With CLN3A Safety, Tolerability, and Efficacy Study of PLX-200 in Participants With Mild-to-Moderate Juvenile Neuronal Ceroid Lipofuscinosis (CLN3) DiseaseJuvenile Neuronal Ceroid LipofuscinosisDrug: PLX-200Polaryx Therapeutics, Inc.NULLNot yet recruiting5 Years18 YearsAll24Phase 2NULL
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
6NCT04429984
(ClinicalTrials.gov)
January 31, 20219/6/2020Post Marketing Surveillance (PMS) Study for Velaglucerase Alfa (VPRIV) in IndiaA Post Marketing Surveillance (PMS) Study for VPRIV (Velaglucerase Alfa) in IndiaGaucher DiseaseDrug: Velaglucerase alfa (VPRIV)ShireNULLNot yet recruitingN/AN/AAll35NULL
7NCT04655911
(ClinicalTrials.gov)
January 15, 202117/11/2020A Long-term Follow-up Study of Patients With MPS IIIB Treated With ABO-101A Long-term Follow-up Study of Patients With MPS IIIB From Gene Therapy Clinical Trials Involving the Administration of ABO-101 (rAAV9.CMV.hNAGLU)Mucopolysaccharidosis III-BBiological: ABO-101Abeona Therapeutics, IncNULLNot yet recruitingN/AN/AAll24United States;France;Germany
8NCT04031066
(ClinicalTrials.gov)
January 11, 202117/7/2019Interventional Study to Assess Efficacy and Safety of Velmanase Alfa in Patients With Alpha MannosidosisA Multicenter, Randomized, Double-blind, Placebo-controlled, Parallel Group, Phase 3 Study to Evaluate the Efficacy and Safety of Velmanase Alfa in Patients With Alpha MannosidosisAlpha-MannosidosisDrug: Velmanase Alfa;Drug: PlaceboChiesi Farmaceutici S.p.A.NULLWithdrawnN/AN/AAll0Phase 3NULL
9NCT04125927
(ClinicalTrials.gov)
January 20213/10/2019Cystadrops in Pediatric Cystinosis Patients From Six Months to Less Than Two Years Old (SCOB2)Open-label, Single-arm, Multicenter Study to Assess the Safety of Cystadrops® in Pediatric Cystinosis Patients From 6 Months to Less Than 2 Years OldCystinosisDrug: MercaptamineRecordati Rare DiseasesNULLNot yet recruiting6 Months2 YearsAll5Phase 3NULL
10NCT04656600
(ClinicalTrials.gov)
December 31, 20204/12/2020Phase IV Study to Evaluate Efficacy and Safety of Imiglucerase Treatment in Chinese Patients With Gaucher Disease Type ?A Single Arm, Prospective, Open Label, Multicenter Study to Evaluate Efficacy and Safety of One-year Maximum Dosage in Chinese Label of Imiglucerase Treatment in Chinese Patients Who Are Diagnosed as Gaucher Disease Type ?Gaucher's DiseaseDrug: Cerezyme® / ImigluceraseSanofiNULLNot yet recruiting2 YearsN/AAll12Phase 4NULL
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
11EUCTR2018-002097-51-DK
(EUCTR)
04/12/202008/07/2019A Fabry Disease Gene Therapy StudyA Phase 1/2, Baseline-controlled, Non-randomised, Open-label, Single-ascending Dose Study of a Novel Adeno-associated Viral Vector (FLT190) in Patients With Fabry disease - MARVEL1 Fabry disease
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: FLT190
Product Code: FLT190
INN or Proposed INN: NA
Other descriptive name: FLT190
Freeline Therapeutics LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: no
Male: yes
12Phase 1;Phase 2United States;France;Spain;Denmark;Norway;Germany;United Kingdom;Italy
12NCT04628871
(ClinicalTrials.gov)
December 1, 20209/11/2020Long Term Follow-up (LTFU) of Subjects Who Received SB-318, SB-913, or SB-FIXLong-Term Follow-up of Subjects Who Were Treated With SB-318, SB-913, or SB-FIX, for Targeted Genome Editing Into the Albumin Gene in the LiverHemophilia B;Mucopolysaccharidosis I;Mucopolysaccharidosis IIBiological: SB-318;Biological: SB-913;Biological: SB-FIXSangamo TherapeuticsNULLEnrolling by invitation18 YearsN/AAll13United States
13NCT04532047
(ClinicalTrials.gov)
December 1, 202019/8/2020In Utero Enzyme Replacement Therapy for Lysosomal Storage DiseasesIn Utero Enzyme Replacement Therapy (ERT) for Prenatally Diagnosed Lysosomal Storage Disorders (LSDs).MPS I;MPS II;MPS IVA;MPS VI;Mps VII;Gaucher Disease, Type 2;Gaucher Disease, Type 3;Pompe Disease Infantile-Onset;Wolman DiseaseDrug: Aldurazyme (laronidase)University of California, San FranciscoDuke UniversityNot yet recruiting18 Years50 YearsFemale10Phase 1United States
14JPRN-jRCT2021200023
08/10/202009/10/2020A multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, and safety of venglustat in late onset GM2A multicenter, multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, safety, and tolerability of venglustat in late onset GM2 gangliosidosis (Tay-Sachs disease and Sandhoff disease) together with a separate basket for juvenile/adolescent late onset GM2 gangliosidosis and ultra rare diseases within the same and similar glucosylceramidebased sphingolipid pathway Tay-Sachs Disease, Sandhoff DiseaseDrug: venglustat GZ402671
- Pharmaceutical form: tablet
- Route of administration: oral
Drug: placebo
- Pharmaceutical form: tablet
- Route of administration: oral
Tanaka TomoyukiNULLRecruiting>= 2age oldNot applicableBoth62Phase 3Spain;United States;Brazil;Russian Federation;United Kingdom;Japan
15NCT04360265
(ClinicalTrials.gov)
September 28, 202020/4/2020A Long-term Follow-up Study of Patients With MPS IIIA Treated With ABO-102A Long-term Follow-up Study of Patients With MPS IIIA From Gene Therapy Clinical Trials Involving the Administration of ABO-102 (scAAV9.U1a.hSGSH)Mucopolysaccharidosis III-ABiological: ABO-102Abeona Therapeutics, IncNULLRecruitingN/AN/AAll50United States;Australia;Spain
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
16NCT04519749
(ClinicalTrials.gov)
September 1, 202014/8/2020An Open-label, Phase 1/2 Trial of Gene Therapy 4D-310 in Adult Males With Classic Fabry DiseaseAn Open-label, Phase 1/2 Trial of Gene Therapy 4D-310 in Adult Males With Classic Fabry DiseaseFabry DiseaseBiological: 4D-3104D Molecular TherapeuticsNULLRecruiting18 YearsN/AMale18Phase 1;Phase 2United States
17NCT04227600
(ClinicalTrials.gov)
September 1, 202027/12/2019A Study of JR-171 in Patients With Mucopolysaccharidosis IPhase I/II Study of JR-171 ? Patients With Mucopolysaccharidosis Type IMucopolysaccharidosis IDrug: JR-171JCR Pharmaceuticals Co., Ltd.NULLNot yet recruitingN/AN/AAll19Phase 1;Phase 2NULL
18NCT04143958
(ClinicalTrials.gov)
September 202028/10/2019To Assess the Glycosphingolipid Clearance and Clinical Effects of Switching to Agalsidase Beta (Fabrazyme) Versus Continuing on Agalsidase Alfa (Replagal) in Male Patients With Classic Fabry DiseaseA Randomized, Open-label, Active Comparator, 2-arm, Prospective Study to Assess the Glycosphingolipid Clearance and Clinical Effects of Switching to Agalsidase Beta (Fabrazyme) Versus Continuing on Agalsidase Alfa (Replagal) in Male Patients With Classic Fabry DiseaseFabry's DiseaseDrug: agalsidase beta (GZ419828);Drug: agalsidase alfaSanofiNULLWithdrawn16 Years45 YearsMale0Phase 4Czechia
19NCT04411654
(ClinicalTrials.gov)
September 202011/5/2020Phase 1/2 Clinical Trial of PR001 in Infants With Type 2 Gaucher Disease (PROVIDE)An Open-label, Phase 1/2 Study to Evaluate the Safety and Efficacy of Single-dose PR001A in Infants With Type 2 Gaucher DiseaseGaucher Disease, Type 2Biological: PR001;Drug: Methylprednisolone;Drug: Sirolimus;Drug: PrednisonePrevail TherapeuticsNULLRecruitingN/A24 MonthsAll15Phase 1;Phase 2United States
20EUCTR2019-000222-21-GB
(EUCTR)
25/08/202012/06/2020Migalastat Pediatric Long Term Extension StudyA LONG-TERM, OPEN-LABEL STUDY TO EVALUATE THE SAFETY, PHARMACODYNAMICS, AND EFFICACY OF MIGALASTAT IN SUBJECTS > 12 YEARS OF AGE WITH FABRY DISEASE AND AMENABLE GLA VARIANTS Fabry disease and with amenable GLA variants
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Migalastat
Product Code: AT1001
INN or Proposed INN: migalastat
Other descriptive name: MIGALASTAT HYDROCHLORIDE
Amicus Therapeutics, UK LimitedNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
20Phase 3United States;United Kingdom
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
21NCT04476862
(ClinicalTrials.gov)
August 24, 202015/7/2020Cerliponase Alfa Observational Study in the USCerliponase Alfa Observational StudyLate-Infantile Neuronal Ceroid Lipofuscinosis Type 2Drug: Cerliponase Alfa;Device: Administration KitBioMarin PharmaceuticalNULLNot yet recruitingN/AN/AAll35NULL
22EUCTR2017-003369-85-NO
(EUCTR)
24/08/202026/06/2020A research study to study the effects of a new oral drug called lucerastat in adults with Fabry diseaseA multicenter, double-blind, randomized, placebo-controlled, parallel-group study to determine the efficacy and safety of lucerastat oral monotherapy in adult subjects with Fabry disease. - MODIFY Fabry disease
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Lucerastat
Product Code: ACT-434964
INN or Proposed INN: Lucerastat
Other descriptive name: OGT923
Idorsia Pharmaceuticals LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
99Phase 3United States;Spain;Ireland;Austria;Italy;Switzerland;United Kingdom;Canada;Belgium;Poland;Australia;Norway;Germany;Netherlands
23NCT04246060
(ClinicalTrials.gov)
July 31, 202027/1/2020Observational Study to Assess the Quality of Life in Nephropathic Cystinosis PatientsMulticentre, Ambispective, Observational, Real Life Study to Assess the Quality of Life Effectiveness of Extended Release (ER) Oral Cysteamine Therapy (Procysbi) in Belgian Patients Suffering From Nephropathic CystinosisNephropathic CystinosisDrug: Cysteamine BitartrateChiesi SA/NVNULLEnrolling by invitationN/AN/AAll31Belgium
24EUCTR2019-002375-34-DE
(EUCTR)
23/07/202025/11/2019A multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, and safety of venglustat in late-onset GM2A multicenter, multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, safety, and tolerability of venglustat in late-onset GM2 gangliosidosis (Tay-Sachs disease and Sandhoff disease) together with a separate basket for juvenile/adolescent late-onset GM2 gangliosidosis and ultra-rare diseases within the same and similar glucosylceramide-based sphingolipid pathway - AMETHIST Tay-Sachs diseaseSandhoff disease
MedDRA version: 23.0;Level: LLT;Classification code 10043147;Term: Tay-Sachs disease;System Organ Class: 100000004850
MedDRA version: 23.0;Classification code 10081314;Term: Sandhoff disease;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Name: Venglustat
Product Code: GZ402671
INN or Proposed INN: Venglustat
Other descriptive name: Genz-682452-AU
Product Name: Venglustat
Product Code: GZ402671
INN or Proposed INN: Venglustat
Other descriptive name: Genz-682452-AU
Product Name: Venglustat
Product Code: GZ402671
INN or Proposed INN: Venglustat
Other descriptive name: Genz-682452-AU
Genzyme CorporationNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
83Phase 3United States;Portugal;Spain;Turkey;Austria;Russian Federation;United Kingdom;Italy;France;Czech Republic;Argentina;Brazil;Germany;Japan
25EUCTR2019-004909-27-GB
(EUCTR)
22/07/202001/05/2020STUDY TO EVALUATE THE SAFETY AND ESTABLISH A SAFE DOSE OF DNL310 IN PEDIATRIC SUBJECTS WITH HUNTER SYNDROMEA PHASE 1/2, MULTICENTER, OPEN-LABEL STUDY TO DETERMINE THE SAFETY, PHARMACOKINETICS, AND PHARMACODYNAMICS OF DNL310 IN PEDIATRIC SUBJECTS WITH HUNTER SYNDROME Hunter Syndrome (Mucopolysaccharidosis Type II [MPS II])
MedDRA version: 20.0;Level: LLT;Classification code 10056917;Term: Hunter's syndrome;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: DNL310
Product Code: DNL310 Drug Substance
INN or Proposed INN: Not applicable
Other descriptive name: IDURONATE-2-SULFATASE FUSED TO A FC POLYPEPTIDE THAT BINDS TO THE HUMAN TRANSFERRIN RECEPTOR
Denali Therapeutics Inc.NULLAuthorised-recruitment may be ongoing or finishedFemale: no
Male: yes
16Phase 1;Phase 2United States;Netherlands;Germany;Italy;United Kingdom
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
26NCT04251026
(ClinicalTrials.gov)
July 16, 202028/1/2020A Study of DNL310 in Pediatric Subjects With Hunter SyndromeA Phase 1/2, Multicenter, Open-Label Study to Determine the Safety, Pharmacokinetics, and Pharmacodynamics of DNL310 in Pediatric Subjects With Hunter SyndromeMucopolysaccharidosis IIDrug: DNL310Denali Therapeutics Inc.NULLRecruiting2 Years18 YearsMale16Phase 1;Phase 2United States
27EUCTR2018-002984-24-DE
(EUCTR)
30/06/202010/01/2020Open-label, Single-arm, Multicenter Study to Assess the Safety of Cystadrops® in Pediatric Cystinosis Patients from 6 Months to Less Than 2 Years OldStudy to Assess the Safety of Cystadrops® in Pediatric Cystinosis Patients from 6 Months to Less Than 2 Years Old - SCOB2 (Study Cystadrops® Ophthalmic for Patients Below 2 years) Nephropatic Cystinosis patients with corneal cystine crystal deposits
MedDRA version: 20.0;Level: LLT;Classification code 10071112;Term: Nephropathic cystinosis;System Organ Class: 100000004850;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03]
Trade Name: Cystadrops
Product Name: Cystadrops
INN or Proposed INN: Cysteamine hydrochloride
Other descriptive name: ß-mercaptoethylamine Hydrochloride & 2-aminoethanethiol Hydrochloride
Recordati Rare DiseasesNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
5Phase 3France;Germany;United Kingdom
28NCT04221451
(ClinicalTrials.gov)
June 29, 20206/1/2020A Multinational, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy, Pharmacodynamics, Pharmacokinetics, and Safety of Venglustat in Late-onset GM2A Multicenter, Multinational, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy, Pharmacodynamics, Pharmacokinetics, Safety, and Tolerability of Venglustat in Late-onset GM2 Gangliosidosis (Tay-Sachs Disease and Sandhoff Disease) Together With a Separate Basket for Juvenile/Adolescent Late-onset GM2 Gangliosidosis and Ultra-rare Diseases Within the Same and Similar Glucosylceramide-based Sphingolipid PathwayTay-Sachs Disease Sandhoff DiseaseDrug: venglustat GZ402671;Drug: placeboGenzyme, a Sanofi CompanyNULLRecruiting2 YearsN/AAll62Phase 3United States;Brazil;Germany;Japan;Russian Federation;Spain;United Kingdom
29EUCTR2019-002375-34-CZ
(EUCTR)
26/05/202026/05/2020A multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, and safety of venglustat in late-onset GM2A multicenter, multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, safety, and tolerability of venglustat in late-onset GM2 gangliosidosis (Tay-Sachs disease and Sandhoff disease) together with a separate basket for juvenile/adolescent late-onset GM2 gangliosidosis and ultra-rare diseases within the same and similar glucosylceramide-based sphingolipid pathway - AMETHIST Tay-Sachs diseaseSandhoff disease
MedDRA version: 23.0;Level: LLT;Classification code 10043147;Term: Tay-Sachs disease;System Organ Class: 100000004850
MedDRA version: 23.0;Classification code 10081314;Term: Sandhoff disease;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Name: Venglustat
Product Code: GZ402671
INN or Proposed INN: Venglustat
Other descriptive name: Genz-682452-AU
Genzyme CorporationNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
83Phase 3United States;Portugal;Spain;Turkey;Austria;Russian Federation;Italy;United Kingdom;France;Czech Republic;Argentina;Brazil;Germany;Japan
30EUCTR2019-002375-34-PT
(EUCTR)
25/05/202003/12/2019A multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, and safety of venglustat in late-onset GM2A multicenter, multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, safety, and tolerability of venglustat in late-onset GM2 gangliosidosis (Tay-Sachs disease and Sandhoff disease) together with a separate basket for juvenile/adolescent late-onset GM2 gangliosidosis and ultra-rare diseases within the same and similar glucosylceramide-based sphingolipid pathway - AMETHIST Tay-Sachs diseaseSandhoff disease
MedDRA version: 23.0;Level: LLT;Classification code 10043147;Term: Tay-Sachs disease;System Organ Class: 100000004850
MedDRA version: 23.0;Classification code 10081314;Term: Sandhoff disease;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Name: Venglustat
Product Code: GZ402671
INN or Proposed INN: Venglustat
Other descriptive name: Genz-682452-AU
Product Name: Venglustat
Product Code: GZ402671
INN or Proposed INN: Venglustat
Other descriptive name: Genz-682452-AU
Product Name: Venglustat
Product Code: GZ402671
INN or Proposed INN: Venglustat
Other descriptive name: Genz-682452-AU
Genzyme CorporationNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
83Phase 3Portugal;United States;Czechia;Spain;Turkey;Austria;Russian Federation;United Kingdom;Italy;France;Czech Republic;Argentina;Brazil;Germany;Japan
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
31EUCTR2017-003369-85-IE
(EUCTR)
18/05/202001/07/2019A research study to study the effects of a new oral drug called lucerastat in adults with Fabry diseaseA multicenter, double-blind, randomized, placebo-controlled, parallel-group study to determine the efficacy and safety of lucerastat oral monotherapy in adult subjects with Fabry disease. - MODIFY Fabry disease
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Lucerastat
Product Code: ACT-434964
INN or Proposed INN: Lucerastat
Other descriptive name: OGT923
Idorsia Pharmaceuticals LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
99Phase 3United States;Spain;Ireland;Austria;Italy;Switzerland;United Kingdom;Canada;Belgium;Poland;Australia;Germany;Netherlands;Norway
32EUCTR2019-002979-34-ES
(EUCTR)
18/05/202025/05/2020A Long-term Follow-up Study of Patients with MPS IIIA from Gene Therapy Clinical Trials Involving the Administration of ABO-102 (scAAV9.U1a.hSGSH)A Long-term Follow-up Study of Patients with MPS IIIA from Gene Therapy Clinical Trials Involving the Administration of ABO-102 (scAAV9.U1a.hSGSH) MPS IIIA is a devastating lysosomal storage disease, caused by a Nsulfoglucosamine sulfohydrolase gene defect. Infants with MPS IIIA appear normal at birth, but the disease is relentlessly progressive, with deterioration of social and adaptive abilities, neurocognitive decline, and premature death. Death typically occurs by end of the second or beginning of the third decade. Quite importantly, there is no treatmentcurrently available for the disease.
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: scAAV9.U1A.hSGSH
Product Code: ABO-102
INN or Proposed INN: Rebisufligene etisparvovec
Abeona Therapeutics IncNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
34Phase 1;Phase 2Germany;United States;France;Spain;Australia
33EUCTR2017-003369-85-ES
(EUCTR)
18/05/202025/05/2020A research study to study the effects of a new oral drug called lucerastat in adults with Fabry diseaseA multicenter, double-blind, randomized, placebo-controlled, parallel-group study to determine the efficacy and safety of lucerastat oral monotherapy in adult subjects with Fabry disease. - MODIFY Fabry disease
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Lucerastat
Product Code: ACT-434964
INN or Proposed INN: Lucerastat
Other descriptive name: OGT923
Idorsia Pharmaceuticals LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
108Phase 3United States;Spain;Ireland;Austria;Russian Federation;United Kingdom;Italy;Switzerland;Canada;Belgium;Poland;Australia;Germany;Netherlands;Norway
34NCT03687476
(ClinicalTrials.gov)
May 20206/8/2018Safety and Tolerability Study of VTS-270 in Pediatric Participants With Niemann-Pick Type C (NPC) DiseaseAn Open-label, Multicenter Safety and Tolerability Study of VTS-270 (2-hydroxypropyl-ß-cyclodextrin) in Pediatric Subjects Aged < 4 Years With Neurologic Manifestations of Niemann-Pick Type C (NPC) DiseaseNiemann-Pick Disease, Type CDrug: VTS-270Vtesse, Inc., a Mallinckrodt Pharmaceuticals CompanyNULLWithdrawnN/A4 YearsAll0Phase 2NULL
35NCT04252066
(ClinicalTrials.gov)
April 17, 202018/12/2019A Global Prospective Observational Study of Women With Fabry Disease and Their Infants During Pregnancy and BreastfeedingA Global Prospective Observational Study of Women With Fabry Disease and Their Infants During Pregnancy and BreastfeedingFabry DiseaseDrug: migalastatAmicus TherapeuticsNULLRecruitingN/AN/AFemale20United States
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
36NCT03910621
(ClinicalTrials.gov)
April 2, 20208/3/2019Safety and Efficacy of Miglustat in Chinese NPC PatientsA Single Arm Uncontrolled 12 Months Clinical Study to Evaluate the Safety and Efficacy of Miglustat (Zavesca) for the Treatment of Niemann Pick Type C Disease (NPC) in Chinese SubjectsNiemann-Pick Disease, Type CDrug: MiglustatActelionNULLRecruiting4 YearsN/AAll18Phase 4China
37NCT04273269
(ClinicalTrials.gov)
April 202021/1/2020A Safety and Efficacy Study of LYS-GM101 Gene Therapy in Patients With GM1 GangliosidosisAn Open-Label Adaptive-Design Study of Intracisternal Adenoassociated Viral Vector Serotype rh.10 Carrying the Human ß-Galactosidase cDNA for Treatment of GM1 GangliosidosisGM1 GangliosidosisGenetic: LYS-GM101LYSOGENENULLNot yet recruitingN/AN/AAll18Phase 1;Phase 2NULL
38EUCTR2019-004645-32-GB
(EUCTR)
24/03/202031/12/2019A Long-term Follow-up Study of Fabry Disease Subjects Treated with FLT190 (MARVEL 2)A Multicentre, Long-term, Follow-up Study to Investigate the Safety and Durability of Response Following Dosing of an Adeno-associated Viral Vector (FLT190) in Subjects with Fabry Disease - Marvel 2 Fabry disease
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: FLT190
Product Code: FLT190
INN or Proposed INN: NA
Other descriptive name: FLT190
Freeline Therapeutics LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: no
Male: yes
15Phase 2United States;France;Denmark;Norway;Germany;Italy;United Kingdom
39EUCTR2019-002375-34-GB
(EUCTR)
23/03/202027/11/2019A multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, and safety of venglustat in late-onset GM2A multicenter, multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, safety, and tolerability of venglustat in late-onset GM2 gangliosidosis (Tay-Sachs disease and Sandhoff disease) together with a separate basket for juvenile/adolescent late-onset GM2 gangliosidosis and ultra-rare diseases within the same and similar glucosylceramide-based sphingolipid pathway - AMETHIST Tay-Sachs diseaseSandhoff disease
MedDRA version: 23.0;Level: LLT;Classification code 10043147;Term: Tay-Sachs disease;System Organ Class: 100000004850
MedDRA version: 23.0;Classification code 10081314;Term: Sandhoff disease;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Name: Venglustat
Product Code: GZ402671
INN or Proposed INN: Venglustat
Other descriptive name: Genz-682452-AU
Product Name: Venglustat
Product Code: GZ402671
INN or Proposed INN: Venglustat
Other descriptive name: Genz-682452-AU
Product Name: Venglustat
Product Code: GZ402671
INN or Proposed INN: Venglustat
Other descriptive name: Genz-682452-AU
Genzyme CorporationNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
83Phase 3United States;Portugal;Spain;Turkey;Austria;Russian Federation;United Kingdom;Italy;France;Czech Republic;Argentina;Brazil;Germany;Japan
40EUCTR2018-002210-12-BE
(EUCTR)
20/03/202027/03/2020A study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry diseaseA multi-center, open-label, uncontrolled, single-arm, extension study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry disease Fabry disease
MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Lucerastat
Product Code: ACT-434964
INN or Proposed INN: Lucerastat
Other descriptive name: OGT923
Idorsia Pharmaceuticals LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
108Phase 3United States;Spain;Ireland;Austria;Italy;United Kingdom;Canada;Belgium;Poland;Australia;Germany;Netherlands;Norway
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
41NCT04281537
(ClinicalTrials.gov)
March 1, 20207/2/2020A Study to Describe the Experience of Both Patients and Their Clinicians in the Treatment of Fabry Disease With Enzyme Replacement Therapy.A Multi-country Time and Motion Study to Describe the Experience of Clinicians, Patients and Their Caregivers During the Treatment of Fabry Disease With Enzyme Replacement Therapy With Agalsidase Alfa and Agalsidase BetaFabry DiseaseDrug: Agalsidase Beta;Drug: Agalsidase AlphaAmicus TherapeuticsNULLActive, not recruiting18 YearsN/AAll120United States
42NCT04539340
(ClinicalTrials.gov)
February 28, 202028/8/2020A Multi-cohort Study of the Tolerance, Safety, and Pharmacokinetics of GNR-055 in Healthy VolunteersAn Open-label Multi-cohort Dose-escalation Study to Evaluate the Tolerance, Safety, and Pharmacokinetics of GNR-055 (GENERIUM JSC, Russia) in Healthy Volunteers With a Single Intravenous AdministrationMucopolysaccharidosis Type II;Metabolic DiseasesBiological: GNR-055AO GENERIUMNULLCompleted18 Years50 YearsMale20Phase 1Russian Federation
43EUCTR2018-002097-51-DE
(EUCTR)
12/02/202028/02/2019A Fabry Disease Gene Therapy StudyA Phase 1/2, Baseline-controlled, Non-randomised, Open-label, Single-ascending Dose Study of a Novel Adeno-associated Viral Vector (FLT190) in Patients With Fabry disease - MARVEL1 Fabry disease
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: FLT190
Product Code: FLT190
INN or Proposed INN: NA
Other descriptive name: FLT190
Freeline Therapeutics LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: no
Male: yes
12Phase 1;Phase 2United States;France;Spain;Denmark;Norway;Germany;United Kingdom;Italy
44EUCTR2017-000146-21-IT
(EUCTR)
30/01/202023/10/2020AN OPEN-LABEL STUDY OF THE SAFETY, PHARMACOKINETICS, PHARMACODYNAMICS, AND EFFICACY OF 12-MONTH TREATMENT WITH MIGALASTAT IN PEDIATRIC SUBJECTS (AGED 12 TO <18 YEARS) WITH FABRY DISEASE AND AMENABLE GLA VARIANTSAN OPEN-LABEL STUDY OF THE SAFETY, PHARMACOKINETICS, PHARMACODYNAMICS, AND EFFICACY OF 12-MONTH TREATMENT WITH MIGALASTAT IN PEDIATRIC SUBJECTS (AGED 12 TO <18 YEARS) WITH FABRY DISEASE AND AMENABLE GLA VARIANTS - ASPIRE Fabry disease and with amenable GLA variants
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Trade Name: Galafold
Product Name: Migalastat
Product Code: [AT1001]
INN or Proposed INN: migalastat
Other descriptive name: MIGALASTAT HYDROCHLORIDE
Amicus Therapeutics UK, LtdNULLNAFemale: yes
Male: yes
20Phase 3United States;Spain;Australia;Germany;United Kingdom;Italy
45EUCTR2018-001148-67-SI
(EUCTR)
09/01/202003/04/2019Safety and Efficacy study assessing Pegunigalsidase Alfa (PRX-102) in Patients With Fabry DiseaseOpen Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102) in Patients With Fabry Disease
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: PEGUNIGALSIDASE ALFA
Protalix Ltd.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
110Phase 3United States;Slovenia;Spain;Turkey;Italy;Switzerland;United Kingdom;Czech Republic;Hungary;Canada;Argentina;Belgium;Brazil;Australia;Norway;Netherlands
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
46EUCTR2018-003291-12-DE
(EUCTR)
08/01/202006/06/2019Research study to determine the effects of an investigational drug, SHP611 on patients with with Late Infantile Metachromatic Leukodystrophy (MLD) specially the gross motor function, using the Gross Motor Function Classification in Metachromatic Leukodystrophy (GMFC-MLD) compared with matched historical control data in children with MLD.A Global, Multicenter, Open-label, Matched Historical Control Study of Intrathecal SHP611 in Subjects with Late Infantile Metachromatic Leukodystrophy Late Metachromatic Leukodystrophy (MLD)
MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Shire Human Genetic Therapies, Inc.NULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
42Phase 2France;United States;Mexico;Canada;Brazil;Belgium;Spain;Israel;Netherlands;Germany;Japan;United Kingdom
47NCT04201405
(ClinicalTrials.gov)
January 7, 20205/12/2019Gene Therapy With Modified Autologous Hematopoietic Stem Cells for Patients With Mucopolysaccharidosis Type IIIAA Phase I-II, Study of Autologous CD34+ Haematopoietic Stem Cells Transduced ex Vivo With CD11b Lentiviral Vector Encoding for Human SGSH in Patients With Mucopolysaccharidosis Type IIIA (MPS IIIa, Sanfilippo Syndrome Type A)Mucopolysaccharidosis Type IIIADrug: Autologous CD34+ cells transduced with a lentiviral vector containing the human SGSH geneUniversity of ManchesterOrchard Therapeutics;CTI Clinical Trial and Consulting Services;University College, London;Great Ormond Street Hospital for Children NHS Foundation Trust;Manchester University NHS Foundation TrustRecruiting3 Months24 MonthsAll5Phase 1;Phase 2United Kingdom
48NCT03887533
(ClinicalTrials.gov)
January 6, 202022/3/2019Combined 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)NULLRecruiting3 Years60 YearsAll30Phase 1;Phase 2United States
49NCT04018755
(ClinicalTrials.gov)
December 23, 20191/7/2019Open-label Study of Anakinra in MPS IIIOpen-label Pilot Study of the Effects of Anakinra in Mucopolysaccharidosis (MPS) IIIMucopolysaccharidosis IIIBiological: anakinraLundquist Institute for Biomedical Innovation at Harbor-UCLA Medical CenterCure Sanfilippo Foundation;SobiActive, not recruiting4 YearsN/AAll20Phase 2;Phase 3United States
50EUCTR2015-003904-21-FR
(EUCTR)
23/12/201911/09/2019Gene transfer clinical trial for Mucopolysaccharidosis IIIAPhase I/II gene transfer clinical trial of scAAV9.U1a.hSGSH for Mucopolysaccharidosis (MPS) IIIA MPS IIIA is a devastating lysosomal storage disease, caused by a N-sulfoglucosamine sulfohydrolase gene defect. Infants with MPS IIIA appear normal at birth, but the disease is relentlessly progressive, with deterioration of social and adaptive abilities, neurocognitive decline, and premature death. Death typically occurs by end of the second or beginning of the third decade. Quite importantly, there is no treatment currently available for the disease.
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Abeona Therapeutics IncNULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
22Phase 1;Phase 2United States;France;Brazil;Spain;Australia;Germany;United Kingdom
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
51EUCTR2019-000064-21-GB
(EUCTR)
20/12/201911/02/2020To assess the glycosphingolipid clearance and clinical benefits of agalsidase beta in male patients with classic Fabry disease switching from agalsidase alfaA randomized, open-label, active comparator, 2-arm, prospective study to assess the glycosphingolipid clearance and clinical effects of switching to agalsidase beta (Fabrazyme®) versus continuing on agalsidase alfa (Replagal) in male patients with classic Fabry disease. - Fabry study with Fabrazyme and Replagal Fabry's disease
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Trade Name: Fabrazyme
Product Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Trade Name: Replagal
Product Name: Replagal
INN or Proposed INN: AGALSIDASE ALFA
Sanofi Aventis Groupe (SAG)NULLNot RecruitingFemale: no
Male: yes
35Phase 4France;Czech Republic;Canada;Spain;Turkey;Denmark;Austria;Norway;Germany;Italy;United Kingdom
52EUCTR2018-000195-15-DE
(EUCTR)
16/12/201922/10/2018An Open-Label study with only one arm of treatment that will be carried out in different international sites of Intracerebral Administration of study drug for the Treatment of Sanfilippo syndrome type AAn Open-Label, Single-Arm, Multicenter Study of Intracerebral Administration of Adeno-Associated Viral Vectors Serotype rh10 Carrying the Human N-sulfoglucosamine sulfohydrolase (SGSH) cDNA for the Treatment of Mucopolysaccharidosis Type IIIA Mucopolysaccharidosis Type IIIA
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: LYS-SAF302
Product Code: LYS-SAF302
INN or Proposed INN: OLENASUFLIGENE RELDUPARVOVEC
Other descriptive name: LYS-SAF302
Lysogene SANULLNot RecruitingFemale: yes
Male: yes
20Phase 2;Phase 3United States;France;Netherlands;Germany;United Kingdom
53NCT03879655
(ClinicalTrials.gov)
December 2, 201912/12/2018Open-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 CompanyNULLActive, not recruiting4 Years21 YearsAll7Phase 2;Phase 3Costa Rica
54EUCTR2017-002806-10-NL
(EUCTR)
29/11/201908/11/2018An open, non-controlled, parallel, ascending multiple-dose, multicenter study to assess the safety, tolerability, pharmacokinetics and pharmacodynamics of SOBI003 in pediatric MPS IIIA patientsAn open, non-controlled, parallel, ascending multiple-dose, multicenter study to assess the safety, tolerability, pharmacokinetics and pharmacodynamics of SOBI003 in pediatric MPS IIIA patients Mucopolysaccharidosis Type IIIA or Sanfilippo Syndrome
MedDRA version: 20.1;Level: LLT;Classification code 10028094;Term: Mucopolysaccharidosis IH;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Chemically modified recombinant human sulfamidase
Product Code: SOBI003
INN or Proposed INN: not applicable
Other descriptive name: CHEMICALLY MODIFIED RECOMBINANT HUMAN SULFAMIDASE
Swedish Orphan Biovitrum AB (publ)NULLNot RecruitingFemale: yes
Male: yes
9Phase 1United States;Turkey;Germany;Netherlands
55JPRN-jRCTs061190017
21/11/201926/09/2019Japan-Ambroxol Chaperone Study2 cohort, Non-randomized, Multi-site Study to Evaluate the Efficacy and Safety of Chaperone Therapy with Ambroxol Hydrochloride in Patients with Neuronopathic Gaucher disease - J-ACT Neuronopathic Gaucher diseaseAmbroxol will be given.Narita AyaNULLRecruitingNot applicableNot applicableBoth25Phase 3Japan
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
56NCT04002830
(ClinicalTrials.gov)
November 20, 201927/6/2019A 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 yet recruitingN/AN/AAll15Phase 4India;Israel;Turkey
57EUCTR2019-000667-24-GB
(EUCTR)
12/11/201919/03/2019A Phase I/II Study to Assess the Safety and Tolerability of ST-920, a rAAV2/6 Human Alpha Galactosidase A Gene Therapy, in Subjects with Fabry DiseaseA Phase I/II, Multicenter, Open-Label, SingleDose, Dose-Ranging Study to Assess the Safety and Tolerability of ST-920, a rAAV2/6 Human Alpha Galactosidase A Gene Therapy in Subjects with Fabry Disease Fabry Disease (X-linked lysosomal storage disease)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Sangamo Therapeutics, Inc.NULLAuthorised-recruitment may be ongoing or finished Female: no
Male: yes
30Phase 1;Phase 2United States;United Kingdom
58EUCTR2018-003291-12-GB
(EUCTR)
12/11/201918/06/2019Research study to determine the effects of an investigational drug, SHP611 on patients with with Late Infantile Metachromatic Leukodystrophy (MLD) specially the gross motor function, using the Gross Motor Function Classification in Metachromatic Leukodystrophy (GMFC-MLD) compared with matched historical control data in children with MLD.A Global, Multicenter, Open-label, Matched Historical Control Study of Intrathecal SHP611 in Subjects with Late Infantile Metachromatic Leukodystrophy Late Metachromatic Leukodystrophy (MLD)
MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Code: SHP611
Other descriptive name: RECOMBINANT HUMAN ARYLSULFATASE A
Shire Human Genetic Therapies, Inc.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
42Phase 2France;United States;Mexico;Canada;Brazil;Belgium;Spain;Israel;Netherlands;Germany;Japan;United Kingdom
59EUCTR2018-001148-67-HU
(EUCTR)
07/11/201908/11/2019Safety and Efficacy study assessing Pegunigalsidase Alfa (PRX-102) in Patients With Fabry DiseaseOpen Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102) in Patients With Fabry Disease
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: PEGUNIGALSIDASE ALFA
Protalix Ltd.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
110Phase 3United States;Slovenia;Spain;Turkey;Italy;Switzerland;United Kingdom;Hungary;Czech Republic;Canada;Argentina;Belgium;Brazil;Australia;Norway;Netherlands
60NCT04088734
(ClinicalTrials.gov)
October 29, 201911/9/2019Gene Transfer Study of ABO-102 in Patients With Middle and Advanced Phases of MPS IIIA DiseaseA Phase I/II Open Label, Single-dose, Gene Transfer Study of scAAV9.U1a.hSGSH (ABO-102) in Patients With Middle and Advanced Phases of MPS IIIA DiseaseMPS IIIA;Sanfilippo Syndrome;Sanfilippo A;Mucopolysaccharidosis IIIDrug: ABO-102Abeona Therapeutics, IncNULLRecruitingN/AN/AAll12Phase 1;Phase 2United States;Australia;Spain
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
61EUCTR2018-002984-24-GB
(EUCTR)
25/10/201915/07/2019Open-label, Single-arm, Multicenter Study to Assess the Safety of, Cystadrops® in Pediatric Cystinosis Patients,from 6 Months to Less Than 2 Years Old [SCOB2 Study]Open-label, Single-arm, Multicenter Study to Assess the Safety of Cystadrops® in Pediatric Cystinosis Patients from 6 Months to Less Than 2 Years Old [SCOB2 Study] - SCOB2 Corneal cystine crystal deposits in pediatric patients withnephropathic cystinosis from 6 months to less than 2 years old;Therapeutic area: Diseases [C] - Eye Diseases [C11]Trade Name: Cystadrops
Product Name: Cystadrops
INN or Proposed INN: Mercaptamine hydrochloride
Other descriptive name: Cysteamine hydrochloride
RECORDATI Rare Diseases SARLNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
5Phase 3France;United Kingdom
62EUCTR2019-002051-42-GB
(EUCTR)
25/10/201909/04/2020A study testing a gene therapy to treat mucopolysaccharidosis type IIIA (MPS IIIA, Sanfilippo syndrome type A)A phase I-II, study of autologous CD34+ haematopoietic stem cells transduced ex vivo with CD11b lentiviral vector encoding for human SGSH in patients with mucopolysaccharidosis type IIIA (MPS IIIA, Sanfilippo syndrome type A) MPS IIIA, mucopolysaccharidosis type IIIA
MedDRA version: 20.1;Level: PT;Classification code 10028093;Term: Mucopolysaccharidosis;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: CRYOPRESERVED AUTOLOGOUS CD34+ CELLS TRANSDUCED WITH A LENTIVIRAL VECTOR CONTAINING HUMAN SGSH GENE
INN or Proposed INN: no recommended INN
Other descriptive name: AUTOLOGOUS CD34+ CELLS TRANSDUCED WITH A LENTIVIRAL VECTOR CONTAINING THE HUMAN SGSH GENE
University of ManchesterNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
5Phase 1;Phase 2United Kingdom
63EUCTR2018-003291-12-NL
(EUCTR)
24/10/201910/04/2019Research study to determine the effects of an investigational drug, SHP611 on patients with with Late Infantile Metachromatic Leukodystrophy (MLD) specially the gross motor function, using the Gross Motor Function Classification in Metachromatic Leukodystrophy (GMFC-MLD) compared with matched historical control data in children with MLD.A Global, Multicenter, Open-label, Matched Historical Control Study of Intrathecal SHP611 in Subjects with Late Infantile Metachromatic Leukodystrophy Late Metachromatic Leukodystrophy (MLD)
MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Code: SHP611
INN or Proposed INN: N/A
Other descriptive name: RECOMBINANT HUMAN ARYLSULFATASE A
Shire Human Genetic Therapies, Inc.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
42Phase 2United States;Spain;Israel;United Kingdom;France;Mexico;Canada;Belgium;Brazil;Denmark;Netherlands;Germany;Japan
64EUCTR2018-001947-30-DK
(EUCTR)
22/10/201913/06/2019Safety and Efficacy study assessing Pegunigalsidase Alfa (PRX-102) Administered by Intravenous Infusion Every 4 Weeks in Patients With Fabry DiseaseOpen Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102) 2 mg/kg Administered by Intravenous Infusion Every 4 Weeks in Patients with Fabry Disease
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: PEGUNIGALSIDASE ALFA
Protalix Ltd.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
40Phase 3United States;Taiwan;Spain;Turkey;United Kingdom;Italy;Czech Republic;Canada;Belgium;Denmark;Australia;Netherlands;Norway
65NCT04049760
(ClinicalTrials.gov)
October 14, 201930/7/2019Safety, 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 TherapeuticsNULLRecruiting12 Years17 YearsAll20Phase 3United States;Spain;United Kingdom
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
66JPRN-JapicCTI-194975
01/10/201927/09/2019An multicenter open-label long-term continuous administration study to investigate the safety and tolerability of lucerastat in Japanese Fabry disease patientsAn multicenter open-label long-term continuous administration study to investigate the safety and tolerability of lucerastat in Japanese Fabry disease patients Fabry diseaseIntervention name : Lucerastat
INN of the intervention : lucerastat
Dosage And administration of the intervention : 1000 mg twice daily
Control intervention name : -
INN of the control intervention : -
Dosage And administration of the control intervention : -
Idorsia Pharmaceuticals Japan LtdNULLother16BOTH20Phase 3Japan
67NCT03228940
(ClinicalTrials.gov)
September 30, 201918/7/2017Safety and Effect of Oral RVX000222 in Subjects With Fabry DiseaseAn Open-Label Study to Assess the Safety and Effect on Key Biomarkers of Oral RVX000222 in Subjects With Fabry DiseaseFabry DiseaseDrug: RVX000222Resverlogix CorpNULLNot yet recruiting18 Years75 YearsAll16Phase 1;Phase 2Canada
68NCT04316637
(ClinicalTrials.gov)
September 18, 201918/3/2020Early Access Program With Arimoclomol in US Patients With NPCEarly Access Program With Arimoclomol for the Treatment of Niemann-Pick Disease Type C in the USNiemann-Pick Disease, Type CDrug: ArimoclomolOrphazymeNULLAvailable2 YearsN/AAllUnited States
69NCT03759639
(ClinicalTrials.gov)
September 4, 201927/11/2018N-Acetyl-L-Leucine for Niemann-Pick Disease, Type C (NPC)Effects of N-Acetyl-L-Leucine on Niemann Pick Type C Disease: A Multinational, Multicenter, Open-label, Rater-blinded Phase II Study.Niemann-Pick Disease, Type CDrug: IB1001IntraBio IncNULLActive, not recruiting6 YearsN/AAll34Phase 2United States;Germany;Slovakia;Spain;United Kingdom
70NCT04348136
(ClinicalTrials.gov)
September 1, 201918/12/2019An Extension Study of JR-141 in Patients With Mucopolysaccharidosis IIAn Extension Study of JR-141-301 in Patients With Mucopolysaccharidosis IIMucopolysaccharidosis IIDrug: JR-141JCR Pharmaceuticals Co., Ltd.NULLEnrolling by invitationN/AN/AMale27Phase 2;Phase 3Japan
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
71EUCTR2017-000146-21-GB
(EUCTR)
29/08/201922/03/2019ASPIRE Paediatric Fabry StudyAN OPEN-LABEL STUDY OF THE SAFETY, PHARMACOKINETICS, PHARMACODYNAMICS, AND EFFICACY OF 12-MONTH TREATMENT WITH MIGALASTAT IN PEDIATRIC SUBJECTS (AGED 12 TO <18 YEARS) WITH FABRY DISEASE AND AMENABLE GLA VARIANTS Fabry disease and with amenable GLA variants
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Trade Name: Galafold
Product Name: Migalastat
Product Code: AT1001
INN or Proposed INN: migalastat
Other descriptive name: MIGALASTAT HYDROCHLORIDE
Amicus Therapeutics, UK LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
20Phase 3United States;Spain;Australia;Germany;Italy;United Kingdom
72NCT03952637
(ClinicalTrials.gov)
August 19, 201915/5/2019A Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human <=-Galactosidase in Type I and Type II GM1 GangliosidosisA Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 GangliosidosisLysosomal Diseases;Gangliosidosis;GM1Biological: AAV9-GLB1;Drug: Rituximab;Drug: Sirolimus;Drug: Methylprednisolone;Drug: Prednisone;Diagnostic Test: Audiology assessmentwith ABR;Diagnostic Test: Bone density scan (DEXA;Diagnostic Test: Electrocardiogram (EKG);Diagnostic Test: Echocardiogram;Other: Electroencephalogram (EEG) awake andextended overnight;Diagnostic Test: Laboratory tests;Procedure: Lumbar puncture;Procedure: Brain MRI/MRS/fMRI;Behavioral: Neurocognitive testing;Other: Neurology exam;Behavioral: PICC line placement;Procedure: Skeletal survey;Procedure: Skin biopsy;Procedure: Speech and modified barium swallow study;Procedure: Ophthalmology examNational Human Genome Research Institute (NHGRI)Axovant Sciences, Inc.Recruiting6 Months12 YearsAll45Phase 1;Phase 2United States
73NCT04069260
(ClinicalTrials.gov)
August 2, 201916/8/2019A Phase 2 Study of ELX-02 in Patients With Nephropathic CystinosisA Phase 2, Single Center, Open-Label, Multiple Dose Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Daily Subcutaneously Administered ELX-02 in Patients With Nephropathic Cystinosis Bearing One or More CTNS Gene (Cystinosin) Nonsense MutationsGenetic Disease;Nonsense Mutation;CystinosisDrug: ELX-02Eloxx Pharmaceuticals, Inc.NULLTerminated12 YearsN/AAll3Phase 2Canada
74NCT03021941
(ClinicalTrials.gov)
July 31, 201923/9/2016Pharmacokinetics, Pharmacodynamics And Safety Study Of Elelyso(tm) In Pediatric Subjects With Type 1 Gaucher DiseaseA MULTICENTER, OPEN LABEL, PHARMACOKINETICS, PHARMACODYNAMICS AND SAFETY STUDY OF ELELYSO(TM) (TALIGLUCERASE ALFA) IN PEDIATRIC SUBJECTS WITH TYPE 1 GAUCHER DISEASEType 1 Gaucher DiseaseDrug: Elelyso 60 units/kgPfizerNULLWithdrawnN/A12 YearsAll0Phase 4United States
75NCT04046224
(ClinicalTrials.gov)
July 23, 20191/8/2019Dose-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 TherapeuticsNULLRecruiting18 YearsN/AMale30Phase 1;Phase 2United States
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
76EUCTR2014-001411-39-DE
(EUCTR)
24/06/201929/10/2018Gene transfer clinical trial for Mucopolysaccharidosis IIIBPhase I/II gene transfer clinical trial of rAAV9.CMV.hNAGLU for Mucopolysaccharidosis (MPS) IIIB MPS IIIB is a devastating lysosomal storage disease, caused by a N-a-acetylglucosaminidase (NAGLU) gene defect. Infants with MPS IIIB appear normal at birth, but the disease is relentlessly progressive, with deterioration of social and adaptive abilities, neurocognitive decline, and premature death. Death typically occurs by end of the second or beginning of the third decade. Quite importantly, there is no treatment currently available for the disease.
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: rAAV9.CMV.hNAGLU
Product Code: ABO-101
INN or Proposed INN: rAAV9.CMV.hNAGLU
Other descriptive name: rAAV9.CMV.hNAGLU
Abeona Therapeutics Europe SL.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
20Phase 1;Phase 2United States;France;Spain;Germany;United Kingdom
77EUCTR2018-001148-67-NL
(EUCTR)
21/06/201924/07/2019Safety and Efficacy study assessing Pegunigalsidase Alfa (PRX-102) in Patients With Fabry DiseaseOpen Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102)in Patients With Fabry Disease
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: PEGUNIGALSIDASE ALFA
Protalix Ltd.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
110Phase 3Switzerland;United Kingdom;Hungary;Czech Republic;Canada;Argentina;Belgium;Brazil;Australia;Norway;Netherlands;Italy;United States;Slovenia;Spain;Turkey
78EUCTR2018-004331-71-GB
(EUCTR)
20/06/201914/01/2019To demonstrate that N-Acetyl-L-Leucine is effective in improving symptoms, functioning and quality of life in patients with Niemann-Pick Type C disease (NPC).Effects of N-Acetyl-L-Leucine on Niemann-Pick disease type C: A multinational,multicenter, open-label, rater-blinded Phase II study. - IB1001-201Effects of N-Acetyl-L-Leucine on Niemann-Pick type C Disease To demonstrate that N-Acetyl-L-Leucine is effective in improvingsymptoms, functioning, and quality of life in patients withNiemann-Pick Type C disease (NPC).
MedDRA version: 20.0;Level: PT;Classification code 10029403;Term: Niemann-Pick disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Name: N-Acetyl-L-Leucine
Product Code: IB1001
INN or Proposed INN: SUB195712
Other descriptive name: N-Acetyl-L-Leucine
Product Name: N-Acetyl-L-Leucine
Product Code: IB1001
INN or Proposed INN: N-Acetyl-L-leucine
Other descriptive name: N-Acetyl-L-Leucine
IntraBio LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
39Phase 2United States;Slovakia;Spain;Germany;United Kingdom
79EUCTR2018-004406-25-GB
(EUCTR)
20/06/201906/02/2020To demonstrate that N-Acetyl-L-Leucine is effective in improving symptoms, functioning and quality of life in patients with GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease).Effects of N-Acetyl-L-Leucine on GM2 Gangliosidosis (Tay-Sachs and SandhoffDisease): A multinational, multicenter, open-label, rater-blinded Phase II study - IB1001-202 To demonstrate that N-Acetyl-L-Leucine is effective in improvingsymptoms, functioning, and quality of life in patients GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease).
MedDRA version: 20.0;Level: PT;Classification code 10043147;Term: Tay-Sachs disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 21.1;Classification code 10081314;Term: Sandhoff disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Name: N-Acetyl-L-Leucine
Product Code: IB1001
INN or Proposed INN: SUB195712
Other descriptive name: N-Acetyl-L-Leucine
Product Name: N-Acetyl-L-Leucine
Product Code: IB1001
INN or Proposed INN: N-Acetyl-L-leucine
Other descriptive name: N-Acetyl-L-Leucine
IntraBio LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
39Phase 2United States;Spain;Germany;United Kingdom
80EUCTR2018-004331-71-ES
(EUCTR)
10/06/201922/01/2019A safety and efficacy study of N-Acetyl-L-Leucine on Niemann-Pick type C Disease.Effects of N-Acetyl-L-Leucine on Niemann-Pick type C Disease (NPC): A multinational, multi-center, open-label, rater-blinded Phase II study Niemann-Pick Disease type C (NPC)
MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
IntraBio LtdNULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
39Phase 2United States;Slovakia;Spain;Germany;United Kingdom
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
81EUCTR2018-004406-25-ES
(EUCTR)
10/06/201912/04/2019A safety and efficacy study of N-Acetyl-L-Leucine on GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease).Effects of N-Acetyl-L-Leucine on GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease): A multinational, multicenter, open-label, rater-blinded Phase II study. GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease)
MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
IntraBio LtdNULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
39Phase 2United States;Spain;Germany;United Kingdom
82NCT03759665
(ClinicalTrials.gov)
June 7, 201927/11/2018N-Acetyl-L-Leucine for GM2 Gangliosdisosis (Tay-Sachs and Sandhoff Disease)Effects of N-Acetyl-L-Leucine on GM2 Gangliosdisosis (Tay-Sachs and Sandhoff Disease): A Multinational, Multicenter, Open-label, Rater-blinded Phase II StudyGM2 Gangliosidosis;Tay-Sachs Disease;Sandhoff DiseaseDrug: IB1001IntraBio IncNULLRecruiting6 YearsN/AAll39Phase 2United States;Germany;Spain;United Kingdom
83EUCTR2018-004331-71-SK
(EUCTR)
04/06/201930/01/2019A safety and efficacy study of N-Acetyl-L-Leucine on Niemann-Pick type C Disease. Effects of N-Acetyl-L-Leucine on Niemann-Pick disease type C: A multinational, multicenter, open-label, rater-blinded Phase II study. Niemann-Pick Disease type C (NPC)
MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.0;Level: PT;Classification code 10029403;Term: Niemann-Pick disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
IntraBio LtdNULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
39Phase 2United States;Slovakia;Spain;Germany;United Kingdom
84NCT04145037
(ClinicalTrials.gov)
May 30, 201927/8/2019Phase 1/2 Lentiviral Vector Gene Therapy - The GuardOne Trial of 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-02AvroBioNULLRecruiting16 Years35 YearsAll16Phase 1;Phase 2Australia;Canada
85EUCTR2018-000195-15-GB
(EUCTR)
28/05/201919/09/2018An Open-Label study with only one arm of treatment that will be carried out in different international sites of Intracerebral Administration of study drug for the Treatment of Sanfilippo syndrome type AAn Open-Label, Single-Arm, Multicenter Study of Intracerebral Administration of Adeno-Associated Viral Vectors Serotype rh10 Carrying the Human N-sulfoglucosamine sulfohydrolase (SGSH) cDNA for the Treatment of Mucopolysaccharidosis Type IIIA Mucopolysaccharidosis Type IIIA
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: LYS-SAF302
Product Code: LYS-SAF302
INN or Proposed INN: OLENASUFLIGENE RELDUPARVOVEC
Other descriptive name: LYS-SAF302
Lysogene SANULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
20Phase 2;Phase 3Germany;United Kingdom;United States;France;Netherlands
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
86EUCTR2018-001947-30-GB
(EUCTR)
27/05/201924/10/2019Safety and Efficacy study assessing Pegunigalsidase Alfa (PRX-102) Administered by Intravenous Infusion Every 4 Weeks in Patients With Fabry DiseaseOpen Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102) 2 mg/kg Administered by Intravenous Infusion Every 4 Weeks in Patients with Fabry Disease - PB-102-F51
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: PEGUNIGALSIDASE ALFA
Protalix Ltd.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
40Phase 3United States;Taiwan;Spain;Turkey;United Kingdom;Italy;Czech Republic;Canada;Belgium;Australia;Denmark;Netherlands;Norway
87EUCTR2018-000504-42-ES
(EUCTR)
21/05/201909/04/2018Gene Therapy Clinical Trial for Mucopolysaccharidosis IIIA in patient with middle and advanced phases of the diseaseA Phase I/II Open Label, Single-dose, Gene Transfer Study of scAAV9.U1a.hSGSH (ABO-102) in Patients with Middle and Advanced Phases of MPS IIIA Disease - ABO-102 for Treatment of Middle and Advanced Phases of MPS IIIA MPS IIIA is a devastating lysosomal storage disease, caused by a Nsulfoglucosamine sulfohydrolase gene defect. Infants with MPS IIIA appear normal at birth, but the disease is relentlessly progressive, with deterioration of social and adaptive abilities, neurocognitive decline, and premature death. Death typically occurs by end of the second or beginning of the third decade. Quite importantly, there is no treatment currently available for the disease.
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Abeona Therapeutics IncNULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
12Phase 1;Phase 2United States;Spain;Australia
88EUCTR2018-003291-12-BE
(EUCTR)
20/05/201918/04/2019Research study to determine the effects of an investigational drug, SHP611 on patients with with Late Infantile Metachromatic Leukodystrophy (MLD) specially the gross motor function, using the Gross Motor Function Classification in Metachromatic Leukodystrophy (GMFC-MLD) compared with matched historical control data in children with MLD.A Global, Multicenter, Open-label, Matched Historical Control Study of Intrathecal SHP611 in Subjects with Late Infantile Metachromatic Leukodystrophy Late Metachromatic Leukodystrophy (MLD)
MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Code: SHP611
Other descriptive name: RECOMBINANT HUMAN ARYLSULFATASE A
Shire Human Genetic Therapies, Inc.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
42Phase 2United States;France;Mexico;Canada;Spain;Brazil;Belgium;Israel;Netherlands;Germany;United Kingdom;Japan
89NCT03949920
(ClinicalTrials.gov)
May 16, 201918/4/2019A Study of Migalastat in Fabry DiseaseA Prospective Observational Study Investigating the Impact of Migalastat on Cardiovascular Structure and Function in Fabry DiseaseFabry DiseaseDrug: MigalastatManchester University NHS Foundation TrustSalford Royal NHS Foundation TrustRecruiting16 YearsN/AAll21United Kingdom
90EUCTR2018-003291-12-ES
(EUCTR)
16/05/201912/04/2019Research study to determine the effects of an investigational drug, SHP611 on patients with with Late Infantile Metachromatic Leukodystrophy (MLD) specially the gross motor function, using the Gross Motor Function Classification in Metachromatic Leukodystrophy (GMFC-MLD) compared with matched historical control data in children with MLD.A Global, Multicenter, Open-label, Matched Historical Control Study of Intrathecal SHP611 in Subjects with Late Infantile Metachromatic Leukodystrophy - NA Late Metachromatic Leukodystrophy (MLD)
MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Shire Human Genetic Therapies, Inc.NULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
35Phase 2United States;Spain;Israel;United Kingdom;France;Mexico;Canada;Belgium;Brazil;Denmark;Germany;Netherlands;Japan
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
91EUCTR2016-000378-38-FR
(EUCTR)
13/05/201915/05/2019Safety and effectiveness study comparing PRX-102 and Agalsidase Beta on Kidney function for patients with Fabry Disease who have previously been treated with Agalsidase BetaA Randomized, Double blind, Active Control Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta Fabry disease (a-galactosidase A deficiency)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: Pegunigalsidase alpha
Trade Name: Fabrazyme
Product Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Other descriptive name: N/A
Trade Name: Fabrazyme
Product Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Other descriptive name: N/A
Protalix Ltd.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
78Phase 3United States;Slovenia;Paraguay;Finland;Spain;Turkey;Italy;Switzerland;United Kingdom;France;Hungary;Czech Republic;Canada;Argentina;Belgium;Brazil;Denmark;Australia;Norway;Netherlands;Germany
92EUCTR2017-000146-21-ES
(EUCTR)
09/05/201911/04/2019ASPIRE Pediatric Fabry StudyAN OPEN-LABEL STUDY OF THE SAFETY, PHARMACOKINETICS, PHARMACODYNAMICS, AND EFFICACY OF 12-MONTH TREATMENT WITH MIGALASTAT IN PEDIATRIC SUBJECTS (AGED 12 TO <18 YEARS) WITH FABRY DISEASE AND AMENABLE GLA VARIANTS Fabry disease and with amenable GLA variants
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Amicus Therapeutics, UK LtdNULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
20Phase 3United States;Spain;Australia;Germany;Italy;United Kingdom
93EUCTR2018-004406-25-DE
(EUCTR)
09/05/201923/01/2019A safety and efficacy study of N-Acetyl-L-Leucine on GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease).Effects of N-Acetyl-L-Leucine on GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease): A multinational, multicenter, open-label, rater-blinded Phase II study. GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease)
MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: N-Acetyl-L-Leucine
Product Code: IB1001
INN or Proposed INN: N-Acetyl-L-Leucine
Other descriptive name: 2(S)-(ACETYLAMINO)-4-METHYLPENTANOIC ACID
Product Name: N-Acetyl-L-Leucine
Product Code: IB1001
INN or Proposed INN: N-Acetyl-L-Leucine
Other descriptive name: 2(S)-(ACETYLAMINO)-4-METHYLPENTANOIC ACID
IntraBio LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
39Phase 2United States;Spain;Germany;United Kingdom
94EUCTR2018-004331-71-DE
(EUCTR)
08/05/201902/01/2019A safety and efficacy study of N-Acetyl-L-Leucine on Niemann-Pick type C Disease.Effects of N-Acetyl-L-Leucine on Niemann-Pick type C Disease (NPC): A multinational, multi-center, open-label, rater-blinded Phase II study Niemann-Pick Disease type C (NPC)
MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: N-Acetyl-L-Leucine
Product Code: IB1001
INN or Proposed INN: N-Acetyl-L-leucine
Other descriptive name: 2(S)-(ACETYLAMINO)-4-METHYLPENTANOIC ACID
Product Name: N-Acetyl-L-Leucine
Product Code: IB1001
INN or Proposed INN: N-Acetyl-L-leucine
Other descriptive name: 2(S)-(ACETYLAMINO)-4-METHYLPENTANOIC ACID
IntraBio LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
39Phase 2United States;Slovakia;Spain;Germany;United Kingdom
95JPRN-JMA-IIA00421
07/05/201926/04/2019Phase II/III Study to Evaluate the Efficacy and Safety of Chaperone Therapy with Ambroxol Hydrochloride (JT408T) in Patients with Neuronopathic Gaucher disease (Japan- Lysosomal Optimization Study: J-LO study)Phase II/III Study to Evaluate the Efficacy and Safety of Chaperone Therapy with Ambroxol Hydrochloride (JT408T) in Patients with Neuronopathic Gaucher disease (Japan- Lysosomal Optimization Study: J-LO study) Neuronopathic Gaucher diseaseIntervention type:DRUG. Intervention1:ADMINISTRATION, Dose form:TABLET, Route of administration:ORAL.Tottori University Hospital, Departrment of Child NeurologyNULLCompletedNo LimitNo LimitBOTH3Phase 2;Phase 3Japan
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
96NCT03771898
(ClinicalTrials.gov)
April 30, 201910/12/2018A 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: SHP611ShireNULLRecruiting6 Months72 MonthsAll42Phase 2United States;Belgium;Brazil;Canada;France;Germany;Israel;Japan;Netherlands;Spain;United Kingdom;Denmark;Mexico
97JPRN-JapicCTI-194731
30/4/201924/04/2019An open-label phase 3 study of lucerastat in Japanese subjects with Fabry diseaseA multicenter, open-label study to determine the efficacy and safety of lucerastat oral therapy in Japanese subjects with Fabry disease Fabry diseaseIntervention name : ACT-434964
INN of the intervention : Lucerastat
Dosage And administration of the intervention : 1000mg twice a day, oral administration
Control intervention name : -
INN of the control intervention : -
Dosage And administration of the control intervention : -
Idorsia Pharmaceuticals Japan LtdNULLcomplete16BOTH20Phase 3Japan
98EUCTR2018-001947-30-BE
(EUCTR)
29/04/201901/04/2019Safety and Efficacy study assessing Pegunigalsidase Alfa (PRX-102) Administered by Intravenous Infusion Every 4 Weeks in Patients With Fabry DiseaseOpen Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102) 2 mg/kg Administered by Intravenous Infusion Every 4 Weeks in Patients with Fabry Disease
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: PEGUNIGALSIDASE ALFA
Protalix Ltd.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
40Phase 3United States;Taiwan;Spain;Turkey;Italy;United Kingdom;Czech Republic;Canada;Belgium;Australia;Denmark;Netherlands;Norway
99EUCTR2018-002210-12-NL
(EUCTR)
12/04/201919/11/2018A study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry diseaseA multi-center, open-label, uncontrolled, single-arm, extension study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry disease Fabry disease
MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Lucerastat
Product Code: ACT-434964
INN or Proposed INN: Lucerastat
Other descriptive name: OGT923
Idorsia Pharmaceuticals LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
108Phase 3United States;Spain;Ireland;Austria;Italy;United Kingdom;Canada;Belgium;Poland;Australia;Netherlands;Germany;Norway
100EUCTR2018-003291-12-FR
(EUCTR)
11/04/201920/02/2019Research study to determine the effects of an investigational drug, SHP611 on patients with with Late Infantile Metachromatic Leukodystrophy (MLD) specially the gross motor function, using the Gross Motor Function Classification in Metachromatic Leukodystrophy (GMFC-MLD) compared with matched historical control data in children with MLD.A Global, Multicenter, Open-label, Matched Historical Control Study of Intrathecal SHP611 in Subjects with Late Infantile Metachromatic Leukodystrophy Late Metachromatic Leukodystrophy (MLD)
MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Code: SHP611
Other descriptive name: RECOMBINANT HUMAN ARYLSULFATASE A
Shire Human Genetic Therapies, Inc.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
35Phase 2United States;Spain;Israel;United Kingdom;France;Mexico;Canada;Belgium;Brazil;Denmark;Germany;Netherlands;Japan
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
101NCT03775174
(ClinicalTrials.gov)
March 28, 201911/12/2018Expanded Access to MepseviiMPS VII;Mucopolysaccharidosis VII;Sly SyndromeDrug: MepseviiUltragenyx Pharmaceutical IncNULLAvailableN/AN/AAllNULL
102EUCTR2018-000195-15-NL
(EUCTR)
25/03/201927/09/2018An Open-Label study with only one arm of treatment that will be carried out in different international sites of Intracerebral Administration of study drug for the Treatment of Sanfilippo syndrome type AAn Open-Label, Single-Arm, Multicenter Study of Intracerebral Administration of Adeno-Associated Viral Vectors Serotype rh10 Carrying the Human N-sulfoglucosamine sulfohydrolase (SGSH) cDNA for the Treatment of Mucopolysaccharidosis Type IIIA Mucopolysaccharidosis Type IIIA
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: LYS-SAF302
Product Code: LYS-SAF302
INN or Proposed INN: olenasufligene relduparvovec
Other descriptive name: LYS-SAF302
Lysogene SANULLNot RecruitingFemale: yes
Male: yes
20Phase 2;Phase 3United States;France;Germany;Netherlands;United Kingdom
103EUCTR2018-002210-12-GB
(EUCTR)
18/03/201923/10/2018A study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry diseaseA multi-center, open-label, uncontrolled, single-arm, extension study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry disease Fabry disease
MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Lucerastat
Product Code: ACT-434964
INN or Proposed INN: Lucerastat
Other descriptive name: OGT923
Idorsia Pharmaceuticals LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
108Phase 3United States;Canada;Poland;Belgium;Ireland;Austria;Australia;Netherlands;Germany;United Kingdom
104EUCTR2016-000378-38-FI
(EUCTR)
12/03/201906/02/2019Safety and effectiveness study comparing PRX-102 and Agalsidase Beta on Kidney function for patients with Fabry Disease who have previously been treated with Agalsidase BetaA Randomized, Double blind, Active Control Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta Fabry disease (a-galactosidase A deficiency)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: Pegunigalsidase alpha
Trade Name: Fabrazyme
Product Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Other descriptive name: N/A
Trade Name: Fabrazyme
Product Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Other descriptive name: N/A
Protalix Ltd.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
78Phase 3United States;Slovenia;Finland;Spain;Turkey;Italy;Switzerland;United Kingdom;France;Hungary;Czech Republic;Canada;Argentina;Belgium;Brazil;Denmark;Australia;Norway;Netherlands;Germany;Sweden
105EUCTR2016-000301-37-NL
(EUCTR)
06/03/201928/06/2018Safety and Efficacy of Eliglustat with or without Imiglucerase in Pediatric Patients with Gaucher Disease (GD) Type 1 and Type 3Open label, Two Cohort (with and without Imiglucerase), Multicenter Study to Evaluate Pharmacokinetics, Safety, and Efficacy of Eliglustat in Pediatric Patients with Gaucher Disease Type 1 and Type 3 - ELIKIDS Congenital, hereditary and neonatal diseases
MedDRA version: 20.0;Level: PT;Classification code 10075697;Term: Gaucher's disease type I;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.0;Classification code 10075699;Term: Gaucher's disease type III;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genzyme CorporationNULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
120Phase 3France;Egypt;Canada;Argentina;Spain;Turkey;Russian Federation;Netherlands;Italy;United Kingdom;Sweden
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
106NCT03950050
(ClinicalTrials.gov)
March 1, 20196/8/2018Ambroxol Therapy for Patients With Type 1 Gaucher Disease and Suboptimal Response to Enzyme Replacement TherapyAmbroxol Therapy for Patients With Type 1 Gaucher Disease and Suboptimal Response to Enzyme Replacement TherapyGaucher Disease, Type 1Drug: AmbroxolShaare Zedek Medical CenterNULLRecruiting18 Years75 YearsAll60Phase 2Israel
107NCT03893071
(ClinicalTrials.gov)
March 201920/2/2019Open-Label Study of Long-Term Safety and Efficacy of Intravenous Trappsol Cyclo (HPßCD) in Niemann-Pick Disease Type CAn Open-Label Extension Study of the Long-Term Safety and Efficacy of Intravenous Trappsol® Cyclo (HP-ß-CD) in Patients With Niemann-Pick Disease Type C (NPC-1)Niemann-Pick Disease, Type C1Drug: Hydroxypropyl-ß-cyclodextrinCTD Holdings, Inc.NULLRecruiting18 YearsN/AAll12Phase 1United States
108NCT03471143
(ClinicalTrials.gov)
February 22, 20197/3/2018Study 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
109EUCTR2018-002210-12-AT
(EUCTR)
19/02/201905/11/2018A study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry diseaseA multi-center, open-label, uncontrolled, single-arm, extension study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry disease Fabry disease
MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Idorsia Pharmaceuticals LtdNULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
108Phase 3France;United States;Czech Republic;Canada;Poland;Australia;Austria;Netherlands;Germany;United Kingdom
110EUCTR2018-002210-12-DE
(EUCTR)
13/02/201926/10/2018A study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry diseaseA multi-center, open-label, uncontrolled, single-arm, extension study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry disease Fabry disease
MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Lucerastat
Product Code: ACT-434964
INN or Proposed INN: Lucerastat
Other descriptive name: OGT923
Idorsia Pharmaceuticals LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
108Phase 3United States;Spain;Ireland;Austria;Italy;United Kingdom;Canada;Belgium;Poland;Australia;Germany;Netherlands;Norway
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
111EUCTR2018-001148-67-ES
(EUCTR)
08/02/201916/11/2018Safety and Efficacy study assessing Pegunigalsidase Alfa (PRX-102) in Patients With Fabry DiseaseOpen Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102) in Patients With Fabry Disease Fabry disease (a-galactosidase A deficiency)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Protalix Ltd.NULLAuthorised-recruitment may be ongoing or finished 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
112NCT03811028
(ClinicalTrials.gov)
January 23, 201917/12/2018A Study to Assess the Safety, Tolerability, and Efficacy of Long-term SOBI003 Treatment in Pediatric MPS IIIA PatientsAn Open, Single-arm, Multicenter Extension Study to Assess the Safety, Tolerability, and Efficacy of Long-term SOBI003 Treatment in Pediatric MPS IIIA PatientsSanfilippo Syndrome Type A (MPS IIIA)Drug: SOBI003Swedish Orphan BiovitrumNULLActive, not recruiting18 Months78 MonthsAll9Phase 1;Phase 2United States;Turkey
113JPRN-JMA-IIA00416
17/01/201911/03/2019A phase 2 open label study to assess the efficacy and safety of beta-glucuronidase enzyme replacement therapy in Japanese patients with mucopolysaccharidosis type VII, Sly diseaseA phase 2 open label study to assess the efficacy and safety of beta-glucuronidase enzyme replacement therapy in Japanese patients with mucopolysaccharidosis type VII, Sly disease Mucopolysaccharidosis type7Intervention type:DRUG. Intervention1:ADMINISTRATION, Dose form:INJECTION, Route of administration:INTRAVENOUS DRIP, intended dose regimen:UX003 will be intravenously administered at dose of 4 mg/kg every other week. UX003 will be sterilely diluted in saline and transferred to infusion bag. Administration of undiluted UX003 is prohibited. The rate of infusion will be determined to administer 2.5% of diluted UX003 for the first one hour and rest of the drug for 3 hours.. Control intervention1:NOT APPLICABLE.Osaka City University HospitalTakashi HamazakiNOT APPLICABLECompleted>=4 YEARS<=40 YEARSBOTH3Phase 2Japan
114EUCTR2017-002158-35-PT
(EUCTR)
14/01/201923/07/2018Study to investigate the fate of odiparcil since its administration up to the point is completely eliminated, its safety and efficacy in patients 16 years and above with mucopolysaccharidosis (MPS) type VIA phase IIa study to investigate safety, pharmacokinetics, and efficacy of odiparcil in patients 16 years and above with mucopolysaccharidosis (MPS) type VI. Mucopolysaccharidosis (MPS) type VI.
MedDRA version: 20.1;Level: PT;Classification code 10056892;Term: Mucopolysaccharidosis VI;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Odiparcil
Product Code: IVA 336
INN or Proposed INN: Odiparcil
Inventiva S.A.NULLNot RecruitingFemale: yes
Male: yes
20Phase 2France;Portugal;Germany;United Kingdom
115NCT03822013
(ClinicalTrials.gov)
January 14, 201922/1/2019Effects of Miglustat Therapy on Infantile Type of Sandhoff and Taysachs Diseases (EMTISTD)Survey of Miglustat Therapeutic Effects on Neurological and Systemic Symptoms of Infantile Type of Sandhoff and Taysachs DiseasesGM2 Gangliosidosis;Supportive CareDrug: MiglustatTehran University of Medical SciencesMashhad University of Medical Sciences;Kashan University of Medical SciencesRecruiting6 Months24 MonthsAll30Phase 3Iran, Islamic Republic of
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
116EUCTR2014-001411-39-GB
(EUCTR)
10/01/201924/05/2019Gene transfer clinical trial for Mucopolysaccharidosis IIIBPhase I/II gene transfer clinical trial of rAAV9.CMV.hNAGLU for Mucopolysaccharidosis (MPS) IIIB MPS IIIB is a devastating lysosomal storage disease, caused by a N-a-acetylglucosaminidase (NAGLU) gene defect. Infants with MPS IIIB appear normal at birth, but the disease is relentlessly progressive, with deterioration of social and adaptive abilities, neurocognitive decline, and premature death. Death typically occurs by end of the second or beginning of the third decade. Quite importantly, there is no treatment currently available for the disease.
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Abeona Therapeutics Europe SL.NULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
9Phase 1;Phase 2France;United States;Spain;Netherlands;Germany;Italy;United Kingdom
117EUCTR2016-000301-37-GB
(EUCTR)
09/01/201917/06/2019Safety and Efficacy of Eliglustat with or without Imiglucerase in Pediatric Patients with Gaucher Disease (GD) Type 1 and Type 3Open label, Two Cohort (with and without Imiglucerase), Multicenter Study to Evaluate Pharmacokinetics, Safety, and Efficacy of Eliglustat in Pediatric Patients with Gaucher Disease Type 1 and Type 3 - ELIKIDS Congenital, hereditary and neonatal diseases
MedDRA version: 20.0;Level: PT;Classification code 10075697;Term: Gaucher's disease type I;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.0;Classification code 10075699;Term: Gaucher's disease type III;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genzyme CorporationNULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
120Phase 3France;Egypt;Canada;Argentina;Spain;Turkey;Russian Federation;Netherlands;Italy;United Kingdom;Sweden
118NCT03708965
(ClinicalTrials.gov)
January 1, 201927/9/2018An Extension Study of JR-141-BR21 in Patients With Mucopolysaccharidosis IIAn Extension Study of JR-141-BR21 in Patients With Mucopolysaccharidosis IIMucopolysaccharidosis IIDrug: JR-141JCR Pharmaceuticals Co., Ltd.NULLEnrolling by invitationN/AN/AMale18Phase 2Brazil
119EUCTR2018-000195-15-FR
(EUCTR)
27/12/201804/09/2018An Open-Label study with only one arm of treatment that will be carried out in different international sites of Intracerebral Administration of study drug for the Treatment of Sanfilippo syndrome type AAn Open-Label, Single-Arm, Multicenter Study of Intracerebral Administration of Adeno-Associated Viral Vectors Serotype rh10 Carrying the Human N-sulfoglucosamine sulfohydrolase (SGSH) cDNA for the Treatment of Mucopolysaccharidosis Type IIIA Mucopolysaccharidosis Type IIIA
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Lysogene SANULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
20Phase 2;Phase 3United States;France;Netherlands;Germany;United Kingdom
120NCT03737214
(ClinicalTrials.gov)
December 18, 20186/11/2018A Study to Evaluate the Long-term Safety and Tolerability of Lucerastat in Adult Subjects With Fabry DiseaseA Multi-center, Open-label, Uncontrolled, Single-arm, Extension Study to Determine the Long-term Safety and Tolerability of Oral Lucerastat in Adult Subjects With Fabry DiseaseFabry DiseaseDrug: LucerastatIdorsia Pharmaceuticals Ltd.NULLRecruiting18 YearsN/AAll108Phase 3United States;Australia;Austria;Belgium;Canada;Germany;Ireland;Italy;Netherlands;Norway;Poland;Spain;Switzerland;United Kingdom;Czechia;France
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
121EUCTR2017-002158-35-DE
(EUCTR)
03/12/201816/08/2017Study to investigate the fate of odiparcil since its administration up to the point is completely eliminated, its safety and efficacy in patients 16 years and above with mucopolysaccharidosis (MPS) type VIA phase IIa study to investigate safety, Pharmacokinetics, and efficacy of odiparcil in patients 16 years and above with mucopolysaccharidosis (MPS) type VI. Mucopolysaccharidosis (MPS) type VI.
MedDRA version: 20.1;Level: PT;Classification code 10056892;Term: Mucopolysaccharidosis VI;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Odiparcil
Product Code: IVA 336
INN or Proposed INN: Odiparcil
Inventiva S.A.NULLNot RecruitingFemale: yes
Male: yes
20Phase 2Portugal;France;Germany;United Kingdom
122NCT04002531
(ClinicalTrials.gov)
November 10, 201825/3/2019A One Visit Follow Up of Adults With Fabry Disease Who Started Long-term Enzyme Replacement Therapy 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 InstituteShireEnrolling by invitation18 YearsN/AAll12N/AUnited States
123NCT03632213
(ClinicalTrials.gov)
November 7, 20183/8/2018Evaluation of Losartan on Cardiovascular Disease in Patients With Mucopolysaccharidoses IV A and VIA Randomized Clinical Trial to Evaluate the Effects of Losartan on Cardiovascular Disease in Patients With Mucopolysaccharidoses IV A and VIMucopolysaccharidosis IV A;Mucopolysaccharidosis VI;Mucopolysaccharidoses;MPS IV A;MPS VI;MPS - Mucopolysaccharidosis;Morquio A Syndrome;Morquio Syndrome A;Morquio SyndromeDrug: Losartan;Drug: PlaceboHospital de Clinicas de Porto AlegreThe Isaac FoundationRecruiting10 Years40 YearsAll30Phase 2Brazil
124NCT03614234
(ClinicalTrials.gov)
November 6, 201830/7/2018Open Label Extension of 2 mg/kg Pegunigalsidase Alfa (PRX-102) Every 4 Weeks in Adult Fabry Disease PatientsOpen Label Extension Study to Evaluate the Long-term Safety and Efficacy of 2 mg/kg Pegunigalsidase Alfa (PRX-102) Administered by Intravenous Infusion Every 4 Weeks in Adult Patients With Fabry DiseaseFabry DiseaseBiological: pegunigalsidase alfaProtalixNULLEnrolling by invitation18 YearsN/AAll40Phase 3United States;Belgium;Czechia;Denmark;Italy;Norway;United Kingdom
125NCT03725670
(ClinicalTrials.gov)
October 30, 201825/9/2018Lentiviral Gene Therapy for MLDGene Therapy for Metachromatic Leukodystrophy (MLD) Using a Self-inactivating Lentiviral Vector (TYF-ARSA)Metachromatic Leukodystrophy (MLD)Biological: Lentivirus-mediated delivery of ARSA to the CNS.Shenzhen Geno-Immune Medical InstituteNULLRecruiting1 MonthN/AAll10N/AChina
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
126EUCTR2016-002328-10-NL
(EUCTR)
29/10/201807/11/2018Gene Therapy in patients with Mucopolysaccharidosis diseaseA Phase I/II Open Label, Dose Escalation, Safety Study in Subjects withMucopolysaccharidosis type VI (MPS VI) Using Adeno-Associated ViralVector 8 to Deliver the human ARSB gene to Liver. The clinical trial will be conducted on patients withMucopolysaccharidosis Type VI. MPS VI is characterized by growthretardation, corneal clouding, cardiac valve disease, organomegaly, skeletal dysplasia, without central nervous system involvement;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]Product Name: AAV2/8.TBG.hARSB
Product Code: not applicable
INN or Proposed INN: NA
Other descriptive name: ADENO-ASSOCIATED VIRAL (AAV) SEROTYPE 8 (AAV2/8) VECTOR WITH LIVER-SPECIFIC THYROXINE-BINDING GLOBULIN (TBG) PROMOTER, DRIVING THE EXPRESSION OF THE HUMAN ARSB GENE
FONDAZIONE TELETHONNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
10Phase 1Turkey;Netherlands;Italy
127EUCTR2018-000368-27-IT
(EUCTR)
22/10/201804/11/2020NDND - ND Fabry disease
MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Digestive System Diseases [C06]
Trade Name: FABRAZYME - 35 MG POLVERE PER CONCENTRATO PER SOLUZIONE PER INFUSIONE ENDOVENOSA 1 FLACONCINO
Product Name: fabrazyme
Product Code: [A16AB04]
INN or Proposed INN: AGALSIDASI BETA
FONDAZIONE POLICLINICO UNIVERSITARIO AGOSTINO GEMELLI IRCCS UNIVERSITA' CATTOLICA DEL SACRO CUORENULLNot RecruitingFemale: yes
Male: yes
14Phase 4Italy
128NCT03500094
(ClinicalTrials.gov)
October 11, 20189/4/2018Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged 12 to <18 Years)An Open-label Study of the Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of 12 Month Treatment With Migalastat in Pediatric Subjects (Aged 12 to <18 Years) With Fabry Disease and Amenable GLA VariantsFabry DiseaseDrug: migalastat HCl 150 mgAmicus TherapeuticsNULLActive, not recruiting12 Years17 YearsAll22Phase 3United States;Spain;United Kingdom
129EUCTR2016-000301-37-SE
(EUCTR)
09/10/201805/06/2018Safety and Efficacy of Eliglustat with or without Imiglucerase in Pediatric Patients with Gaucher Disease (GD) Type 1 and Type 3Open label, Two Cohort (with and without Imiglucerase), Multicenter Study to Evaluate Pharmacokinetics, Safety, and Efficacy of Eliglustat in Pediatric Patients with Gaucher Disease Type 1 and Type 3 - ELIKIDS Congenital, hereditary and neonatal diseases
MedDRA version: 20.0;Level: PT;Classification code 10075697;Term: Gaucher's disease type I;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.0;Classification code 10075699;Term: Gaucher's disease type III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Trade Name: Cerdelga
Product Name: Eliglustat
Product Code: GZ385660
INN or Proposed INN: Eliglustat
Other descriptive name: ELIGLUSTAT TARTRATE
Trade Name: Cerezyme
Product Name: Imiglucerase
INN or Proposed INN: IMIGLUCERASE
Other descriptive name: Cerezyme
Product Name: Eliglustat
Product Code: GZ385660
INN or Proposed INN: Eliglustat
Other descriptive name: ELIGLUSTAT TARTRATE
Product Name: Eliglustat
Product Code: GZ385660
INN or Proposed INN: Eliglustat
Other descriptive name: ELIGLUSTAT TARTRATE
Genzyme CorporationNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
120Phase 3France;Egypt;Canada;Argentina;Spain;Turkey;Russian Federation;Netherlands;United Kingdom;Italy;Sweden
130EUCTR2018-001148-67-GB
(EUCTR)
26/09/201816/05/2018Safety and Efficacy study assessing Pegunigalsidase Alfa (PRX-102) in Patients With Fabry DiseaseOpen Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102)in Patients With Fabry Disease
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: PEGUNIGALSIDASE ALFA
Protalix Ltd.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
110Phase 3United States;Slovenia;Spain;Turkey;Italy;United Kingdom;Switzerland;Hungary;Czech Republic;Canada;Argentina;Belgium;Brazil;Australia;Denmark;Norway;Netherlands;Germany
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
131NCT03566017
(ClinicalTrials.gov)
September 20, 201824/5/2018Extension Study of 1 mg/kg Pegunigalsidase Alfa in Patients With Fabry DiseaseOpen Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102) in Patients With Fabry DiseaseFabry DiseaseBiological: pegunigalsidase alfaProtalixNULLEnrolling by invitation18 Years60 YearsAll110Phase 3United States;Australia;Canada;Czechia;Hungary;Netherlands;Norway;Slovenia;Spain;United Kingdom
132NCT03702361
(ClinicalTrials.gov)
September 4, 20186/8/2018Rapid Intravenous Infusion of Velaglucerase Alfa (VPRIV) in Treatment-naive Patients With Type 1 Gaucher DiseaseRapid Intravenous Infusion of Velaglucerase Alfa (VPRIV) in Treatment-naive Patients With Type 1 Gaucher Disease: An Investigator-initiated StudyPrimary DiseaseDrug: VPRIVShaare Zedek Medical CenterNULLUnknown status6 Years75 YearsAll15Phase 4Israel
133EUCTR2014-001411-39-ES
(EUCTR)
04/09/201827/06/2018Gene transfer clinical trial for Mucopolysaccharidosis IIIBPhase I/II gene transfer clinical trial of rAAV9.CMV.hNAGLU for Mucopolysaccharidosis (MPS) IIIB MPS IIIB is a devastating lysosomal storage disease, caused by a N-a-acetylglucosaminidase (NAGLU) gene defect. Infants with MPS IIIB appear normal at birth, but the disease is relentlessly progressive, with deterioration of social and adaptive abilities, neurocognitive decline, and premature death. Death typically occurs by end of the second or beginning of the third decade. Quite importantly, there is no treatment currently available for the disease.;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]Product Name: rAAV9.CMV.hNAGLU
Product Code: rAAV9.CMV.hNAGLU
INN or Proposed INN: rAAV9.CMV.hNAGLU
Other descriptive name: rAAV9.CMV.hNAGLU
Abeona Therapeutics IncNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
9Phase 1;Phase 2France;United States;Spain;Netherlands;Germany;Italy;United Kingdom
134EUCTR2018-000192-33-GB
(EUCTR)
17/08/201809/04/2018A phase 1/2 study to evaluate the safety and tolerability of SB-913, a rAAV2/6-based gene therapy in patients with Mucopolysaccharidosis II (MPS II)A Phase 1/2, Multicenter, Open-label, Single-dose, Dose-ranging Study to Assess the Safety and Tolerability of SB-913, a rAAV2/6-based Gene Transfer in Subjects with Mucopolysaccharidosis II (MPS II) Mucopolysaccharidosis type II (MPS II)
MedDRA version: 20.1;Level: PT;Classification code 10056889;Term: Mucopolysaccharidosis II;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Sangamo Therapeutics, Inc.NULLAuthorised-recruitment may be ongoing or finished Female: no
Male: yes
32Phase 1;Phase 2United States;United Kingdom
135EUCTR2018-000206-28-GB
(EUCTR)
14/08/201827/03/2018A phase 1/2 study to evaluate the safety and tolerability of SB-318, a rAAV2/6-based Gene Therapy, in patients with Mucopolysaccharidosis I (MPS I)A Phase 1/2, Multicenter, Open-Label, Single-Dose, Dose-Ranging Study to Assess the Safety and Tolerability of SB-318, a rAAV2/6-based Gene Transfer in Subjects with Mucopolysaccharidosis I (MPS I) Mucopolysaccharidosis type I (MPS I)
MedDRA version: 20.1;Level: PT;Classification code 10056886;Term: Mucopolysaccharidosis I;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Sangamo Therapeutics, Inc.NULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
27Phase 1;Phase 2United States;United Kingdom
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
136EUCTR2018-001148-67-CZ
(EUCTR)
02/08/201802/08/2018Safety and Efficacy study assessing Pegunigalsidase Alfa (PRX-102) in Patients With Fabry DiseaseOpen Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102)in Patients With Fabry Disease
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: PEGUNIGALSIDASE ALFA
Protalix Ltd.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
110Phase 3United States;Slovenia;Spain;Turkey;Italy;Switzerland;United Kingdom;Hungary;Czech Republic;Canada;Argentina;Belgium;Brazil;Australia;Denmark;Norway;Netherlands;Germany
137NCT03568175
(ClinicalTrials.gov)
August 1, 20181/6/2018A Study of JR-141 in Patients With Mucopolysaccharidosis IIA Phase II/III Study of JR-141 in Patients With Mucopolysaccharidosis IIMucopolysaccharidosis IIDrug: JR-141JCR Pharmaceuticals Co., Ltd.NULLActive, not recruitingN/AN/AMale20Phase 2;Phase 3Japan
138NCT03359213
(ClinicalTrials.gov)
July 26, 201817/11/2017A Study of JR-141 in Patients With Mucopolysaccharidosis IIPhase II Study of JR-141 in Patients With Mucopolysaccharidosis IIMucopolysaccharidosis IIDrug: JR-141JCR Pharmaceuticals Co., Ltd.NULLCompletedN/AN/AMale18Phase 2Brazil
139EUCTR2017-003369-85-NL
(EUCTR)
24/07/201816/05/2018A research study to study the effects of a new oral drug called lucerastat in adults with Fabry diseaseA multicenter, double-blind, randomized, placebo-controlled, parallel-group study to determine the efficacy and safety of lucerastat oral monotherapy in adult subjects with Fabry disease. - MODIFY Fabry disease
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Lucerastat
Product Code: ACT-434964
INN or Proposed INN: Lucerastat
Other descriptive name: OGT923
Idorsia Pharmaceuticals LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
99Phase 3United States;Spain;Ireland;Austria;Italy;Switzerland;United Kingdom;Canada;Belgium;Poland;Australia;Netherlands;Germany;Norway
140EUCTR2015-001578-17-IT
(EUCTR)
18/07/201804/11/2020An Open-Label, Phase IV Study of Velaglucerase alfa on Bone Related Pathology in Adult, Treatment-Naïve Patients with Type 1 Gaucher DiseaseAn Open-label, Multicenter, Single-arm, Phase 4 Study of the Effect ofTreatment with Velaglucerase alfa on Bone-related Pathology inTreatment-naïve Patients with Type 1 Gaucher Disease - SHP-GCB-402 Gaucher Disease
MedDRA version: 20.0;Level: PT;Classification code 10075697;Term: Gaucher's disease type I;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Trade Name: VPRIV - 400 U - POLVERE PER SOLUZIONE PER INFUSIONE - USO ENDOVENOSO - FLACONCINO(VETRO) 1 FLACONCINO
Product Name: Velaglucerase alfa
Product Code: [-]
INN or Proposed INN: velaglucerasi alfa
Other descriptive name: GLUCOCEREBROSIDASE UMANO GENE-ATTIVATO
SHIRE HUMAN GENETIC THERAPIES, INCNULLNot RecruitingFemale: yes
Male: yes
40Phase 4United States;Spain;Israel;Germany;United Kingdom;Italy
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
141EUCTR2017-001528-23-IT
(EUCTR)
17/07/201810/11/2020Phase 3 Study of the Safety, Efficacy & PK of pegunigalsidase alfa (PRX-102) 2 mg/kg IV Administered Every 4 Weeks in Fabry Disease Patients (BRIGHT)A Phase 3, Open Label, Switch Over Study to Assess the Safety, Efficacy and Pharmacokinetics of pegunigalsidase alfa (PRX-102) 2 mg/kg Administered by Intravenous Infusion Every 4 Weeks for 52 weeks in Patients with Fabry Disease Currently Treated with Enzyme Replacement Therapy; Fabrazyme¿ (agalsidase beta) or Replagal¿ (agalsidase alfa) - Phase 3 Study of the Safety, Efficacy & PK of pegunigalsidase alfa (PRX-102) 2 mg/kg IV Administered Fabry disease (a-galactosidase A deficiency)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: Pegunigalsidase alfa
PROTALIX LTDNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
30Phase 3United States;Czechia;Taiwan;Spain;Turkey;Austria;Italy;United Kingdom;Czech Republic;Canada;Belgium;Denmark;Germany;Netherlands;Norway
142EUCTR2017-001528-23-DK
(EUCTR)
04/07/201810/04/2018Phase 3 Study of the Safety, Efficacy & PK of pegunigalsidase alfa (PRX-102) 2 mg/kg IV Administered Every 4 Weeks in Fabry Disease Patients (BRIGHT)A Phase 3, Open Label, Switch Over Study to Assess the Safety, Efficacy and Pharmacokinetics of pegunigalsidase alfa (PRX-102) 2 mg/kg Administered by Intravenous Infusion Every 4 Weeks for 52 weeks in Patients with Fabry Disease Currently Treated with Enzyme Replacement Therapy; Fabrazyme® (agalsidase beta) or Replagal™ (agalsidase alfa) Fabry disease (a-galactosidase A deficiency)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: Pegunigalsidase alfa
Protalix Ltd.NULLNot RecruitingFemale: yes
Male: yes
30Phase 3United States;Taiwan;Spain;Turkey;Austria;United Kingdom;Czech Republic;Canada;Belgium;Denmark;Germany;Netherlands;Norway
143EUCTR2017-003369-85-AT
(EUCTR)
29/06/201827/04/2018A research study to study the effects of a new oral drug called lucerastat in adults with Fabry diseaseA multicenter, double-blind, randomized, placebo-controlled, parallel-group study to determine the efficacy and safety of lucerastat oral monotherapy in adult subjects with Fabry disease. - MODIFY Fabry disease
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Lucerastat
Product Code: ACT-434964
INN or Proposed INN: Lucerastat
Other descriptive name: OGT923
Idorsia Pharmaceuticals LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
99Phase 3United States;Spain;Ireland;Austria;Italy;Switzerland;United Kingdom;Canada;Belgium;Poland;Australia;Germany;Netherlands;Norway
144NCT03425539
(ClinicalTrials.gov)
June 21, 201816/1/2018Efficacy 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.NULLRecruiting18 YearsN/AAll99Phase 3United States;Australia;Austria;Belgium;Canada;Germany;Ireland;Italy;Netherlands;Norway;Poland;Spain;Switzerland;United Kingdom;Czechia;France
145EUCTR2016-000301-37-ES
(EUCTR)
21/06/201806/07/2018Safety and Efficacy of Eliglustat with or without Imiglucerase in Pediatric Patients with Gaucher Disease (GD) Type 1 and Type 3Open label, Two Cohort (with and without Imiglucerase), Multicenter Study to Evaluate Pharmacokinetics, Safety, and Efficacy of Eliglustat in Pediatric Patients with Gaucher Disease Type 1 and Type 3 - ELIKIDS Congenital, hereditary and neonatal diseases
MedDRA version: 20.0;Level: PT;Classification code 10075697;Term: Gaucher's disease type I;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.0;Classification code 10075699;Term: Gaucher's disease type III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Trade Name: Cerdelga
Product Name: Eliglustat
Product Code: GZ385660
INN or Proposed INN: Eliglustat
Other descriptive name: ELIGLUSTAT TARTRATE
Trade Name: Cerezyme
Product Name: Imiglucerase
INN or Proposed INN: IMIGLUCERASE
Other descriptive name: Cerezyme
Product Name: Eliglustat
Product Code: GZ385660
INN or Proposed INN: Eliglustat
Other descriptive name: ELIGLUSTAT TARTRATE
Product Name: Eliglustat
Product Code: GZ385660
INN or Proposed INN: Eliglustat
Other descriptive name: ELIGLUSTAT TARTRATE
Genzyme CorporationNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
120Phase 3France;Egypt;Canada;Argentina;Spain;Turkey;Russian Federation;Netherlands;Italy;United Kingdom;Sweden
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
146NCT03423186
(ClinicalTrials.gov)
June 19, 201829/1/2018A Study to Assess the Safety and Tolerability of SOBI003 in Pediatric MPS IIIA PatientsAn Open, Non-controlled, Parallel, Ascending Multiple-dose, Multicenter Study to Assess Safety and Tolerability, Pharmacokinetics and Pharmacodynamics of SOBI003 in Pediatric MPS IIIA PatientsSanfilippo Syndrome Type A (MPS IIIA)Drug: SOBI003Swedish Orphan BiovitrumNULLCompleted12 Months72 MonthsAll6Phase 1;Phase 2United States;Germany;Turkey
147NCT03643562
(ClinicalTrials.gov)
June 18, 201819/8/2018Adrabetadex for Patients With Nerve Symptoms of Niemann-Pick Type C Disease (NPC)Open-label Evaluation of Adrabetadex in Patients With Neurologic Manifestations of Niemann-Pick Type C Disease (NPC)Niemann-Pick Type C DiseaseDrug: AdrabetadexVtesse, Inc., a Mallinckrodt Pharmaceuticals CompanyNULLActive, not recruiting4 YearsN/AAll60Phase 3United States
148NCT03513328
(ClinicalTrials.gov)
June 15, 201819/4/2018Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell TransplantationPEDS024, Phase I/II Feasibility Study of Busulfan Fludarabine and Thiotepa Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation (HSCT) for Children With Non-Malignant DisordersBone Marrow Failure Syndrome;Thalassemia;Sickle Cell Disease;Diamond Blackfan Anemia;Acquired Neutropenia in Newborn;Acquired Anemia Hemolytic;Acquired Thrombocytopenia;Hemophagocytic Lymphohistiocytoses;Wiskott-Aldrich Syndrome;Chronic Granulomatous Disease;Common Variable Immunodeficiency;X-linked Lymphoproliferative Disease;Severe Combined Immunodeficiency;Hurler Syndrome;Mannosidosis;AdrenoleukodystrophyDrug: Thiotepa--single daily dose;Drug: Thiotepa--escalated doseUniversity of FloridaLive Like Bella Pediatric Cancer ResearchRecruiting3 Months39 YearsAll40Phase 1;Phase 2United States
149NCT03746587
(ClinicalTrials.gov)
June 6, 20181/11/2018Study of Arimoclomol in Patients Diagnosed With Gaucher Disease Type 1 or 3Multicentre Double-blinded, Randomized Placebo-controlled Study of Arimoclomol in Patients Diagnosed With Gaucher Disease Type 1 or 3Gaucher Disease, Type 1;Gaucher Disease, Type 3Drug: Arimoclomol;Drug: Placebo oral capsuleOrphazymeNULLActive, not recruiting4 Years60 YearsAll39Phase 2India
150EUCTR2017-003369-85-GB
(EUCTR)
14/05/201816/04/2018A research study to study the effects of a new oral drug called lucerastat in adults with Fabry diseaseA multicenter, double-blind, randomized, placebo-controlled, parallel-group study to determine the efficacy and safety of lucerastat oral monotherapy in adult subjects with Fabry disease. - MODIFY Fabry disease
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Lucerastat
Product Code: ACT-434964
INN or Proposed INN: Lucerastat
Other descriptive name: OGT923
Idorsia Pharmaceuticals LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
99Phase 3United States;Spain;Ireland;Austria;United Kingdom;Italy;Switzerland;Canada;Belgium;Poland;Australia;Germany;Netherlands;Norway
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
151EUCTR2017-001528-23-CZ
(EUCTR)
07/05/201806/03/2018Phase 3 Study of the Safety, Efficacy & PK of pegunigalsidase alfa (PRX-102) 2 mg/kg IV Administered Every 4 Weeks in Fabry Disease Patients (BRIGHT)A Phase 3, Open Label, Switch Over Study to Assess the Safety, Efficacy and Pharmacokinetics of pegunigalsidase alfa (PRX-102) 2 mg/kg Administered by Intravenous Infusion Every 4 Weeks for 52 weeks in Patients with Fabry Disease Currently Treated with Enzyme Replacement Therapy; Fabrazyme® (agalsidase beta) or Replagal™ (agalsidase alfa) Fabry disease (a-galactosidase A deficiency)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: Pegunigalsidase alfa
Protalix Ltd.NULLNot RecruitingFemale: yes
Male: yes
30Phase 3United States;Taiwan;Spain;Turkey;Austria;United Kingdom;Czech Republic;Canada;Belgium;Denmark;Germany;Netherlands;Norway
152NCT03519646
(ClinicalTrials.gov)
April 23, 201820/3/2018Eliglustat on Gaucher Disease Type IIIBEvaluation of the Safety in the Combination Usage of Cerdelga and Cerezyme in Type III Gaucher Disease Patients and the Efficacy on Soft Tissue Diseases.Gaucher Disease, Type IIIDrug: EliglustatNational Taiwan University HospitalSanofiActive, not recruiting6 YearsN/AAll4N/ATaiwan
153NCT03485677
(ClinicalTrials.gov)
April 11, 201823/3/2018Safety and Efficacy of Eliglustat With or Without Imiglucerase in Pediatric Patients With Gaucher Disease (GD) Type 1 and Type 3Open Label, Two Cohort (With and Without Imiglucerase), Multicenter Study to Evaluate Pharmacokinetics, Safety, and Efficacy of Eliglustat in Pediatric Patients With Gaucher Disease Type 1 and Type 3Gaucher's Disease Type I;Gaucher's Disease Type IIIDrug: Eliglustat GZ385660;Drug: Imiglucerase GZ437843SanofiNULLRecruiting2 Years17 YearsAll60Phase 3Argentina;Canada;France;Italy;Japan;Russian Federation;Spain;Sweden;Turkey;United Kingdom
154NCT03721627
(ClinicalTrials.gov)
April 3, 201825/10/2018Chronic Hepatitis C Treatment in Egyptian Children With Gaucher Disease.Efficacy and Safety of Ledipasvir/Sofosbuvir Fixed Dose Combination Therapy in Treatment of Chronic Hepatitis C Infection in Egyptian Children With Gaucher DiseaseGaucher Disease;HCVDrug: Ledipasvir/SofosbuvirMansoura University Children HospitalNULLUnknown status6 Years18 YearsAll10Phase 4Egypt
155EUCTR2016-001318-11-NL
(EUCTR)
27/03/201817/10/2017Safety and Efficacy study assessing PRX 102 in Patients with Fabry Disease currently treated with REPLAGAL® (Agalsidase alfa)An Open Label Study of the Safety and Efficacy of PRX 102 in Patients with Fabry Disease Currently Treated With REPLAGAL® (Agalsidase alfa) Fabry disease (a-galactosidase A deficiency)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: Pegunigalsidase alpha
Protalix Ltd.NULLNot RecruitingFemale: yes
Male: yes
22Phase 3Czech Republic;Slovenia;Canada;Spain;Australia;Norway;Germany;Netherlands;United Kingdom
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
156EUCTR2017-002430-23-IT
(EUCTR)
14/03/201809/03/2020Gene therapy study with autologous hemapoietic stem cells for patients affected by MPSIHA phase I/II study evaluating safety and efficacy of autologous hematopoietic stem and progenitor cells genetically modified with IDUA lentiviral vector encoding for the human a-L-iduronidase gene for the treatment of patients affected by Mucopolysaccharidosis Type I, Hurler variant - TigetT10_MPS1H Mucopolysaccharidosis type I Hurler
MedDRA version: 20.1;Level: PT;Classification code 10056886;Term: Mucopolysaccharidosis I;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Other descriptive name: Cellule CD34+ autologhe trasdotte con IDUA LV codificante per il cDNA dell'alfa-L-iduronidasi
Trade Name: BUSILVEX - 6 MG/ML - CONCENTRATO PER SOLUZIONE PER INFUSIONE - USO ENDOVENOSO - FLACONCINO - 10 ML 8 FLACONCINI
INN or Proposed INN: BUSULFANO
Other descriptive name: BUSULFANO
Trade Name: FLUDARABINA ACCORD - 25 MG/ML CONCENTRATO PER SOLUZIONE INIETTABILE O PER INFUSIONE 5 FLACONCINI IN VETRO DA 2 ML
INN or Proposed INN: FLUDARABINA FOSFATO
Other descriptive name: FLUDARABINA FOSFATO
Trade Name: MABTHERA - 2 FIALE 100 MG 10 ML
INN or Proposed INN: RITUXIMAB
Other descriptive name: RITUXIMAB
Trade Name: MYELOSTIM - 34 1 FLACONCINO LIOFILIZZATO 33.6 MIU + SIRINGA PRERIEMPITA SOLVENTE 1 ML
INN or Proposed INN: LENOGRASTIM
Other descriptive name: LENOGRASTIM
Trade Name: MOZOBIL - 20 MG/ML - SOLUZIONE INIETTABILE - USO SOTTOCUTANEO - F
OSPEDALE SAN RAFFAELENULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
6Phase 1Italy
157EUCTR2017-003083-13-GB
(EUCTR)
02/03/201811/01/2018Phase 2 study to evaluate Long-Term Safety and Efficacy of AX 250 in Patients with MPS Type IIIBA Multicenter, Multinational, Extension Study to Evaluate the Long-Term Safety and Efficacy of Intracerebroventricular AX 250 in Patients with Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) Mucopolysaccharidosis Type IIIB (Sanfilippo Syndrome Type B, MPSIIIB)
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: N/A
Product Code: AX 250
INN or Proposed INN: Not available
Other descriptive name: RHNAGLU-IGF2
Allievex CorporationNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
33Phase 2United States;Taiwan;Spain;Turkey;Germany;Colombia;United Kingdom
158NCT03454893
(ClinicalTrials.gov)
February 21, 201820/12/2017FAB- GT Open-Label, Study Of Efficacy and Safety Of AVR-RD-01 for Treatment -Naive Subjects With Classic Fabry DiseaseFAB-GT An 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 Disease (FAB-GT)Fabry DiseaseDrug: AVR-RD-01AvroBioNULLRecruiting16 Years50 YearsMale12Phase 1;Phase 2United States;Australia;Canada
159NCT03784287
(ClinicalTrials.gov)
February 19, 201830/3/2018A Treatment Extension Study of Mucopolysaccharidosis Type IIIBA Multicenter, Multinational, Extension Study to Evaluate the Long Term Safety and Efficacy of Intracerebroventricular AX 250 in Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B)Mucopolysaccharidosis Type IIIB;MPS III BDrug: AX 250Allievex CorporationNULLActive, not recruitingN/A18 YearsAll20Phase 2United States;Colombia;Germany;Spain;Taiwan;Turkey;United Kingdom
160NCT03204370
(ClinicalTrials.gov)
February 1, 20187/6/2017Natural History of Atypical Morquio A DiseaseNatural History of Atypical Morquio A Disease: a 5-years Prospective Study in a Series of 9 Adult Patients Followed in a Single Expert CenterMucopolysaccharidosis IV ADrug: Elosulfase Alfa 1 MG/ML Intravenous Solution [VIMIZIM]GOIZETBioMarin PharmaceuticalRecruiting18 YearsN/AAll9France
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
161EUCTR2016-001988-36-IT
(EUCTR)
12/01/201805/11/2020A study, conducted in several sites, with a duration of 2 years to evaluate the Safety and Efficacy of a new drug named velmanase alfa used in children with Alpha-Mannosidosis below 6 years of ageA 24-month Multicenter, Open-label Phase II Trial Investigating the Safety and Efficacy of Repeated velmanase alfa (recombinant human alpha-mannosidase) Treatment in Pediatric Patients below 6 years of age with Alpha-Mannosidosis - A study, conducted in several sites, with a duration of 2 years to evaluate the Safety and Efficacy Alfa-mannosidosis
MedDRA version: 20.0;Level: LLT;Classification code 10032658;Term: Other specified disorders of carbohydrate transport and metabolism;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Velmanase alfa
Product Code: [rhLAMAN]
INN or Proposed INN: VELMANASE ALFA
Other descriptive name: recombinant human alpha-mannosidase
CHIESI FARMACEUTICI S.P.A.NULLNot RecruitingFemale: yes
Male: yes
3Phase 2France;Denmark;Austria;Germany;Italy
162NCT03370653
(ClinicalTrials.gov)
December 30, 201723/11/2017A Study in MPS VI to Assess Safety and Efficacy of OdiparcilA Phase IIa Study to Investigate Safety, Pharmacokinetics, and Efficacy of Odiparcil in Patients 16 Years and Above With Mucopolysaccharidosis (MPS) Type VIMucopolysaccharidosis VIDrug: Odiparcil;Other: PlaceboInventiva PharmaNULLCompleted16 YearsN/AAll20Phase 2France;Germany;Portugal;United Kingdom
163EUCTR2017-003083-13-ES
(EUCTR)
27/12/201727/11/2017Phase 2 study to evaluate Long-Term Safety and Efficacy of BMN 250 in Patients with MPS Type IIIBA Multicenter, Multinational, Extension Study to Evaluate the Long-Term Safety and Efficacy of Intracerebroventricular BMN 250 in Patients with Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) Mucopolysaccharidosis Type IIIB (Sanfilippo Syndrome Type B, MPSIIIB)
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: N/A
Product Code: BMN 250
INN or Proposed INN: Not available
Other descriptive name: RHNAGLU-IGF2
BioMarin Pharmaceutical Inc.NULLNot RecruitingFemale: yes
Male: yes
33Phase 2Germany;Colombia;United Kingdom;United States;Taiwan;Argentina;Spain;Turkey;Australia
164EUCTR2016-001318-11-DE
(EUCTR)
15/12/201710/01/2017Safety and Efficacy study assessing PRX 102 in Patients with Fabry Disease currently treated with REPLAGAL® (Agalsidase alfa)An Open Label Study of the Safety and Efficacy of PRX 102 in Patients with Fabry Disease Currently Treated With REPLAGAL® (Agalsidase alfa) Fabry disease (a-galactosidase A deficiency)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Protalix Ltd.NULLNot Recruiting Female: yes
Male: yes
22Phase 3Czech Republic;Slovenia;Canada;Spain;Australia;Norway;Netherlands;Germany;United Kingdom
165EUCTR2017-001730-26-IT
(EUCTR)
30/11/201708/04/2019Gene therapy study using a frozen formulation of OTL-200 in patients with Metachromatic Leukodystrophy (MLD).A single arm, open label, clinical study of cryopreserved autologous CD34+ cells transduced with lentiviral vector containing human ARSA cDNA OTL-200, for the treatment of early onset Metachromatic Leukodystrophy (MLD). - A clinical study using cryopreserved OTL-200 for treatment of MLD. Metachromatic Leukodystrophy
MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: OTL-200 Dispersion for Infusion
Product Code: [OTL-200]
Orchard Therapeutics (Europe) LtdNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
10Phase 3Italy
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
166EUCTR2016-000378-38-IT
(EUCTR)
20/11/201706/02/2018Safety and effectiveness study comparing PRX-102 and Agalsidase Beta on Kidney function for patients with Fabry Disease who have previously been treated with Agalsidase BetaA Randomized, Double blind, Active Control Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta - Safety and effectiveness study comparing PRX-102 and Agalsidase Beta on Kidney function for patients Fabry disease (a-galactosidase A deficiency)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: Pegunigalsidase alpha
Trade Name: FABRAZYME - 35 MG POLVERE PER CONCENTRATO PER SOLUZIONE PER INFUSIONE ENDOVENOSA 1 FLACONCINO
Product Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Trade Name: FABRAZYME - 35 MG POLVERE PER CONCENTRATO PER SOLUZIONE PER INFUSIONE ENDOVENOSA 1 FLACONCINO
Product Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
PROTALIX LTDNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
78Phase 3United States;Slovenia;Paraguay;Spain;Turkey;Italy;United Kingdom;Czech Republic;Hungary;Canada;Belgium;Australia;Germany;Netherlands;Norway
167EUCTR2017-002158-35-GB
(EUCTR)
16/11/201708/08/2017Study to investigate the fate of odiparcil since its administration up to the point is completely eliminated, its safety and efficacy in patients 16 years and above with mucopolysaccharidosis (MPS) type VIA phase IIa study to investigate safety, Pharmacokinetics, and efficacy of odiparcil in patients 16 years and above with mucopolysaccharidosis (MPS) type VI. Mucopolysaccharidosis (MPS) type VI.
MedDRA version: 20.1;Level: PT;Classification code 10028095;Term: Mucopolysaccharidosis IV;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Inventiva S.A.NULLNot Recruiting Female: yes
Male: yes
20Phase 2Portugal;France;Germany;United Kingdom
168EUCTR2016-001318-11-SI
(EUCTR)
13/11/201705/10/2017Safety and Efficacy study assessing PRX 102 in Patients with Fabry Disease currently treated with REPLAGAL® (Agalsidase alfa)An Open Label Study of the Safety and Efficacy of PRX 102 in Patients with Fabry Disease Currently Treated With REPLAGAL® (Agalsidase alfa) Fabry disease (a-galactosidase A deficiency)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: Pegunigalsidase alpha
Protalix Ltd.NULLNot RecruitingFemale: yes
Male: yes
22Phase 3Czech Republic;Slovenia;Canada;Spain;Australia;Norway;Netherlands;Germany;United Kingdom
169NCT03639844
(ClinicalTrials.gov)
November 6, 201717/8/2018BPX-501 T Cells Infused Post Stem Cell Transplant in Pediatrics With Non-Malignant Disorders Ineligible for BPU004 StudyExpanded Access Protocol for CaspaCIDe T Cells From An HLA-Partially Matched Related Donor After Negative Selection of TCR aß+T Cells In Pediatric Patients Affected by Hematological and Other DisordersHurler Syndrome;Inherited Metabolic Disorder;Lysosomal Storage Disorder;Metachromatic Leukodystrophy;Inborn Errors of MetabolismBiological: rivogenlecleucel;Drug: rimiducidBellicum PharmaceuticalsNULLNo longer available3 Months21 YearsAllUnited States
170EUCTR2017-001528-23-GB
(EUCTR)
18/10/201728/06/2017Phase 3 Study of the Safety, Efficacy & PK of pegunigalsidase alfa (PRX-102) 2 mg/kg IV Administered Every 4 Weeks in Fabry Disease Patients (BRIGHT)A Phase 3, Open Label, Switch Over Study to Assess the Safety, Efficacy and Pharmacokinetics of pegunigalsidase alfa (PRX-102) 2 mg/kg Administered by Intravenous Infusion Every 4 Weeks for 52 weeks in Patients with Fabry Disease Currently Treated with Enzyme Replacement Therapy; Fabrazyme® (agalsidase beta) or Replagal™ (agalsidase alfa) Fabry disease (a-galactosidase A deficiency)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: Pegunigalsidase alfa
Protalix Ltd.NULLNot RecruitingFemale: yes
Male: yes
30Phase 3United States;Czech Republic;Canada;Spain;Belgium;Turkey;Denmark;Netherlands;Germany;United Kingdom
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
171NCT02939547
(ClinicalTrials.gov)
October 11, 201721/9/2016Study of the Pharmacokinetics of Trappsol and Effects on Potential Biomarkers of Niemann-Pick C1 (NPC1)A Phase I Study to Evaluate the Single and Multiple-dose Pharmacokinetics of Intravenous Trappsol Cyclo (HP-Beta-CD) in Patients With Niemann-Pick Disease Type C (NPC-1) and the Effects of Dosing Upon Biomarkers of NPC DiseaseNiemann-Pick Disease, Type C1Drug: Hydroxypropyl-beta-cyclodextrinCTD Holdings, Inc.NULLCompleted18 YearsN/AAll12Phase 1United States
172NCT03180840
(ClinicalTrials.gov)
September 27, 201729/5/2017Study 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 alfaProtalixNULLActive, not recruiting18 Years60 YearsAll30Phase 3United States;Belgium;Canada;Czechia;Denmark;Italy;Netherlands;Norway;Spain;Taiwan;Turkey;United Kingdom
173EUCTR2017-000645-48-FI
(EUCTR)
21/09/201731/05/2017Cystadane in the treatment of AGUOpen-label study to evaluate efficacy and safety of Cystadane for the treatment of aspartylglucosaminuria - Cystadane in the treatment of AGU Aspartylglucosaminuria;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]Trade Name: Cystadane anhydrousMinna LaineProf. Ritva Tikkanen Authorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
Phase 2Finland
174EUCTR2015-000891-85-GB
(EUCTR)
05/09/201706/03/2017Phase 2 study to evaluate safety and efficacy of BMN 190 in patients with CLN2A Phase 2, Open-Label, Multicenter Study to Evaluate Safety, Tolerability, and Efficacy of Intracerebroventricular BMN 190 in Pediatric Patients < 18 years of age with CLN2 Disease Neuronal Ceroid Lipofuscinosis type 2 (CLN2) disease
MedDRA version: 20.1;Level: LLT;Classification code 10052074;Term: Neuronal ceroid lipofuscinosis NOS;System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
BioMarin Pharmaceutical IncNULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
10Phase 2United States;Germany;Italy;United Kingdom
175EUCTR2017-001528-23-BE
(EUCTR)
21/08/201728/07/2017Phase 3 Study of the Safety, Efficacy & PK of pegunigalsidase alfa (PRX-102) 2 mg/kg IV Administered Every 4 Weeks in Fabry Disease Patients (BRIGHT)A Phase 3, Open Label, Switch Over Study to Assess the Safety, Efficacy and Pharmacokinetics of pegunigalsidase alfa (PRX-102) 2 mg/kg Administered by Intravenous Infusion Every 4 Weeks for 52 weeks in Patients with Fabry Disease Currently Treated with Enzyme Replacement Therapy; Fabrazyme® (agalsidase beta) or Replagal™ (agalsidase alfa) Fabry disease (a-galactosidase A deficiency)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: Pegunigalsidase alfa
Protalix Ltd.NULLNot RecruitingFemale: yes
Male: yes
30Phase 3United States;Czech Republic;Canada;Spain;Belgium;Turkey;Denmark;Netherlands;Germany;United Kingdom
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
176EUCTR2016-000378-38-SI
(EUCTR)
14/08/201730/06/2017Safety and effectiveness study comparing PRX-102 and Agalsidase Beta on Kidney function for patients with Fabry Disease who have previously been treated with Agalsidase Beta A Randomized, Double blind, Active Control Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta Fabry disease (a-galactosidase A deficiency)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Protalix Ltd.NULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
78Phase 3United States;Slovenia;Paraguay;Finland;Spain;Turkey;Italy;Switzerland;United Kingdom;France;Hungary;Czech Republic;Canada;Argentina;Belgium;Brazil;Australia;Denmark;Norway;Netherlands;Germany
177EUCTR2016-001988-36-DE
(EUCTR)
09/08/201714/02/2017A study, conducted in several sites, with a duration of 2 years to evaluate the Safety and Efficacy of a new drug named velmanase alfa used in children with Alpha-Mannosidosis below 6 years of ageA 24-month Multicenter, Open-label Phase II Trial Investigating the Safety and Efficacy of Repeated velmanase alfa (recombinant human alpha-mannosidase) Treatment in Pediatric Patients below 6 years of age with Alpha-Mannosidosis Alfa-mannosidosis
MedDRA version: 20.0;Level: LLT;Classification code 10032658;Term: Other specified disorders of carbohydrate transport and metabolism;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Velmanase alfa
INN or Proposed INN: VELMANASE ALFA
Other descriptive name: recombinant human alpha-mannosidase
Chiesi Farmaceutici S.p.A.NULLNot RecruitingFemale: yes
Male: yes
3Phase 2Austria;Denmark;Germany
178NCT03173521
(ClinicalTrials.gov)
July 17, 201712/4/2017Gene Therapy in Patients With Mucopolysaccharidosis DiseaseA Phase I/II Open Label, Dose Escalation, Safety Study in Subjects With Mucopolysaccharidosis Type VI (MPS VI) Using Adeno-Associated Viral Vector 8 to Deliver the Human ARSB Gene to LiverMucopolysaccharidosis Type VIBiological: AAV2/8.TBG.hARSBFondazione TelethonNULLRecruiting4 Years65 YearsAll10Phase 1;Phase 2Italy;Netherlands;Turkey
179NCT03201627
(ClinicalTrials.gov)
July 5, 201726/6/2017Study 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 MedicineNULLActive, not recruiting7 Years40 YearsAll18Early Phase 1China
180NCT02921620
(ClinicalTrials.gov)
July 201726/9/2016Study to Evaluate the Safety and EffIcacy of PRX-102 on Gastrointestinal Symptoms in Naïve Fabry DiseaseA Randomized, Double Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of PRX-102 on Gastrointestinal Symptoms in Naïve Fabry Disease PatientsFabry DiseaseBiological: PRX-102;Other: PlaceboProtalixNULLWithdrawn14 Years45 YearsMale0Phase 3NULL
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
181NCT03153319
(ClinicalTrials.gov)
June 5, 201711/5/2017Study 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 InjectionLundquist Institute for Biomedical Innovation at Harbor-UCLA Medical CenterNULLRecruiting5 YearsN/AAll14Phase 1;Phase 2United States
182EUCTR2016-000378-38-NL
(EUCTR)
24/05/201717/01/2017Safety and effectiveness study comparing PRX-102 and Agalsidase Beta on Kidney function for patients with Fabry Disease who have previously been treated with Agalsidase Beta A Randomized, Double blind, Active Control Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta Fabry disease (a-galactosidase A deficiency)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Protalix Ltd.NULLAuthorised-recruitment may be ongoing or finished 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
183NCT02702115
(ClinicalTrials.gov)
May 24, 201729/2/2016Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-318 in Subjects With MPS IA Phase I / 2, Multicenter, Open-label, Single-dose, Dose-ranging Study to Assess the Safety and Tolerability of SB-318, a rAAV2/6-based Gene Transfer in Subjects With Mucopolysaccharidosis I (MPS I)MPS IBiological: SB-318Sangamo TherapeuticsNULLActive, not recruiting5 YearsN/AAll3Phase 1;Phase 2United States
184NCT03041324
(ClinicalTrials.gov)
May 11, 201713/1/2017Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-913 in Subjects With MPS IIA Phase I / 2, Multicenter, Open-label, Single-dose, Dose-ranging Study to Assess the Safety and Tolerability of SB-913, a rAAV2/6-based Gene Transfer in Subjects With Mucopolysaccharidosis II (MPS II)Mucopolysaccharidosis II;MPS IIBiological: SB-913Sangamo TherapeuticsNULLActive, not recruiting5 YearsN/AAll9Phase 1;Phase 2United States
185EUCTR2016-001988-36-AT
(EUCTR)
10/04/201722/02/2017A study, conducted in several sites, with a duration of 2 years to evaluate the Safety and Efficacy of a new drug named velmanase alfa used in children with Alpha-Mannosidosis below 6 years of ageA 24-month Multicenter, Open-label Phase II Trial Investigating the Safety and Efficacy of Repeated velmanase alfa (recombinant human alpha-mannosidase) Treatment in Pediatric Patients below 6 years of age with Alpha-Mannosidosis Alfa-mannosidosis
MedDRA version: 20.0;Level: LLT;Classification code 10032658;Term: Other specified disorders of carbohydrate transport and metabolism;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Velmanase alfa
INN or Proposed INN: VELMANASE ALFA
Other descriptive name: recombinant human alpha-mannosidase
Chiesi Farmaceutici S.p.A.NULLNot RecruitingFemale: yes
Male: yes
3Phase 2Denmark;Austria;Germany
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
186NCT03128593
(ClinicalTrials.gov)
March 30, 201710/4/2017A Study of JR-141 in Patients With Mucopolysaccharidosis Type IIA Phase I/II Study of JR-141 in Patients With Mucopolysaccharidosis Type IIMucopolysaccharidosis IIDrug: JR-141JCR Pharmaceuticals Co., Ltd.NULLCompleted6 YearsN/AMale12Phase 1;Phase 2Japan
187NCT02956954
(ClinicalTrials.gov)
March 25, 20173/11/2016Follow-up of Myocardial T1 Relaxation Time in Patients With Anderson Fabry DiseaseFollow-up of Myocardial T1 Relaxation Time in Patients With Anderson Fabry Disease (AFD): Impact of Treatment by Agalsidase Alpha (Replagal®)Anderson-Fabry DiseaseDrug: Enzyme replacement therapy (Agalsidase alpha (Replagal®));Procedure: Magnetic Resonance ImagingUniversity Hospital, RouenNULLUnknown status18 YearsN/AAll25N/AFrance
188EUCTR2016-001318-11-GB
(EUCTR)
24/03/201704/10/2016Safety and Efficacy study assessing PRX 102 in Patients with Fabry Disease currently treated with REPLAGAL® (Agalsidase alfa)An Open Label Study of the Safety and Efficacy of PRX 102 in Patients with Fabry Disease Currently Treated With REPLAGAL® (Agalsidase alfa) Fabry disease (a-galactosidase A deficiency)
MedDRA version: 19.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: Pegunigalsidase alpha
Protalix Ltd.NULLNot RecruitingFemale: yes
Male: yes
22Phase 3Czech Republic;Slovenia;Canada;Spain;Australia;Norway;Netherlands;Germany;United Kingdom
189EUCTR2012-003775-20-IT
(EUCTR)
20/03/201715/03/2017A safety and efficacy extension of study HGT-MLD-070 in Children with Metachromatic Leukodystrophy recieving enzyme (HGT-1110) replacement by intrathecal injectionAn Open-label Extension of Study HGT-MLD-070 Evaluating Long Term Safety and Efficacy of Intrathecal Administration of HGT-1110 in Patients with Metachromatic Leukodystrophy Treatment of Metachromatic Leukodystrophy
MedDRA version: 19.1;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Code: SHP611
INN or Proposed INN: Not available
Other descriptive name: Recombinant Human Arylsulfatase A (rhASA)
Shire Human Genetics Therapies IncNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
24Phase 1;Phase 2France;Czech Republic;Brazil;Denmark;Australia;Germany;Japan;United Kingdom;Italy
190NCT02912793
(ClinicalTrials.gov)
March 20, 201719/8/2016Safety and Efficacy of Intravenous Trappsol Cyclo (HPBCD) in Niemann-Pick Type C PatientsA Phase I/II Study to Evaluate the Safety and PK of iv Trappsol Cyclo (HP-ß-CD) in Patients With Niemann-Pick Disease Type C NPC-1 and the Pharmacodynamic Effects of Treatment Upon Markers of Cholesterol Metabolism and Clinical OutcomesNiemann-Pick Disease, Type C1Drug: Hydroxypropyl-beta-cyclodextrinCTD Holdings, Inc.NULLRecruiting2 YearsN/AAll12Phase 1;Phase 2Israel;Sweden;United Kingdom
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
191NCT03018730
(ClinicalTrials.gov)
February 23, 20179/1/2017Safety and Efficacy of PRX 102 in Patients With Fabry Disease Currently Treated With REPLAGAL® (Agalsidase Alfa)An Open Label Study of the Safety and Efficacy of PRX 102 in Patients With Fabry Disease Currently Treated With REPLAGAL® (Agalsidase Alfa)Fabry DiseaseBiological: PRX-102 (pegunigalsidase alfa)ProtalixNULLActive, not recruiting18 Years60 YearsAll22Phase 3Australia;Canada;Czechia;Germany;Netherlands;Norway;Slovenia;Spain;United Kingdom;Czech Republic
192EUCTR2015-005761-23-SE
(EUCTR)
19/01/201709/09/2016A Phase I/II study to evaluate Trappsol Cyclo (hydroxypropyl-ß-cyclodextrin) in patients with Niemann-Pick disease type C (NPC-1) to assess what the drug does to the body, and what the body does to the drug, and the side effects and benefits experienced by patientsA Phase I/II study to evaluate the safety and pharmacokinetics of intravenous Trappsol Cyclo (HP-ß-CD) in patients with Niemann-Pick disease type C (NPC-1) and the pharmacodynamic effects of treatment upon markers of cholesterol metabolism and clinical outcomes Niemann-Pick disease type C
MedDRA version: 20.0;Level: PT;Classification code 10029403;Term: Niemann-Pick disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Cyclo Therapeutics, Inc.NULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
12Phase 1;Phase 2Italy;United Kingdom;Sweden
193EUCTR2016-001318-11-CZ
(EUCTR)
19/01/201712/12/2016Safety and Efficacy study assessing PRX 102 in Patients with Fabry Disease currently treated with REPLAGAL® (Agalsidase alfa)An Open Label Study of the Safety and Efficacy of PRX 102 in Patients with Fabry Disease Currently Treated With REPLAGAL® (Agalsidase alfa) Fabry disease (a-galactosidase A deficiency)
MedDRA version: 19.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: Pegunigalsidase alpha
Protalix Ltd.NULLNot RecruitingFemale: yes
Male: yes
22Phase 3Czech Republic;Slovenia;Canada;Spain;Australia;Norway;Netherlands;Germany;United Kingdom
194EUCTR2016-001318-11-ES
(EUCTR)
11/01/201724/10/2016Safety and Efficacy study assessing PRX 102 in Patients with Fabry Disease currently treated with REPLAGAL® (Agalsidase alfa)An Open Label Study of the Safety and Efficacy of PRX 102 in Patients with Fabry Disease Currently Treated With REPLAGAL® (Agalsidase alfa) Fabry disease (a-galactosidase A deficiency)
MedDRA version: 19.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: Pegunigalsidase alpha
Protalix Ltd.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
22Phase 3Canada;Spain;Australia;Norway;Netherlands;Germany;United Kingdom
195NCT04353466
(ClinicalTrials.gov)
January 1, 201713/4/2020Assessing the Impact of Elelyso on Bone Involvement Currently Treated With Other ERTsAn Open-label, Investigator Initiated Clinical Trial to Asses Impact of Elelyso on Bone Involvement in Patients With Gaucher Disease Currently Treated With Other ERTsGaucher Disease, Type 1Procedure: quantitative chemical shift imaging (QCSI);Drug: ElelysoShaare Zedek Medical CenterPfizerActive, not recruiting18 YearsN/AAll30N/ANULL
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
196NCT02843035
(ClinicalTrials.gov)
January 201720/7/2016Venglustat in Combination With Cerezyme in Adult and Pediatric Patients With Gaucher Disease Type 3A 3-part Study to Evaluate the Efficacy and Safety of Venglustat in Combination With Cerezyme in Adult and Pediatric Patients With Gaucher Disease Type 3 (GD3) With Open-label Long-term TreatmentGaucher Disease Type 1-Gaucher Disease Type 3Drug: placebo;Drug: venglustat (GZ/SAR402671);Drug: imigluceraseGenzyme, a Sanofi CompanyNULLRecruiting12 YearsN/AAll49Phase 2;Phase 3United States;Germany;Japan;United Kingdom
197EUCTR2016-000378-38-BE
(EUCTR)
05/12/201630/09/2016Safety and effectiveness study comparing PRX-102 and Agalsidase Beta on Kidney function for patients with Fabry Disease who have previously been treated with Agalsidase Beta A Randomized, Double blind, Active Control Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta Fabry disease (a-galactosidase A deficiency)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Protalix Ltd.NULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
78Phase 3United States;Slovenia;Paraguay;Finland;Spain;Turkey;Italy;United Kingdom;France;Czech Republic;Hungary;Canada;Argentina;Belgium;Brazil;Australia;Norway;Netherlands;Germany
198NCT02998879
(ClinicalTrials.gov)
December 201625/11/2016Trial on Safety and Efficacy of Velmanase Alfa Treatment in Pediatric Patients With Alpha-MannosidosisA 24-month Multicenter, Open-label Phase II Trial Investigating the Safety and Efficacy of Repeated Velmanase Alfa (Recombinant Human Alpha-mannosidase) Treatment in Pediatric Patients Below 6 Years of Age With Alpha-MannosidosisAlpha-MannosidosisDrug: Velmanase Alfa (e.g. Lamazym)Chiesi Farmaceutici S.p.A.CromsourceCompletedN/A6 YearsAll5Phase 2Austria;Denmark;France;Germany;Italy
199NCT02663024
(ClinicalTrials.gov)
December 201617/1/2016Study of Idursulfase-beta (GC1111) in Hunter SyndromePhase 2, Randomized, Double-blind, Active-controlled, Dose-ranging Study to Evaluate the Pharmacokinetics, Pharmacodynamics and Safety of Idursulfase-beta (GC1111) in Hunter Syndrome (Mucopolysaccharidosis II) PatientsMucopolysaccharidosis IIBiological: idursulfase beta;Biological: idursulfaseGreen Cross CorporationNULLNot yet recruiting5 Years35 YearsMale20Phase 2NULL
200EUCTR2015-004438-93-IT
(EUCTR)
08/11/201619/05/2016A clinical study to investigate the study drug Arimoclomol in a double blind, randomised, placebo-controlled study in patients diagnosed with Niemann Pick disease type C.Arimoclomol prospective double blind, randomised, placebo-controlled study in patients diagnosed with Niemann Pick disease type C - Investigate study drug Arimoclomol with patients diagnosed with Niemann Pick disease type C. Niemann Pick disease type C
MedDRA version: 19.0;Level: PT;Classification code 10029403;Term: Niemann-Pick disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Arimoclomol
Product Code: _
INN or Proposed INN: Arimoclomol
Other descriptive name: _
Product Name: Arimoclomol
Product Code: _
INN or Proposed INN: Arimoclomol
Other descriptive name: _
Product Name: Arimoclomol
Product Code: _
INN or Proposed INN: Arimoclomol
Other descriptive name: _
Orphazyme ApSNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
46Phase 2;Phase 3Switzerland;Italy;France;United States;Poland;Spain;Denmark;Germany;United Kingdom
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
201NCT02995993
(ClinicalTrials.gov)
November 201614/12/2016Pharmacokinetics, Pharmacodynamics, and Safety of Moss-aGalactosidase A in Patients With Fabry DiseaseAn Open-Label, Multi-Center Study to Evaluate the Pharmacokinetics, Pharmacodynamics, and Safety of Moss-aGal in Patients With Fabry DiseaseFabry DiseaseDrug: Moss-aGal (recombinant human alpha-galactosidase A produced in moss)Greenovation Biotech GmbHFGK Clinical Research GmbHCompleted18 Years65 YearsAll6Phase 1Germany
202EUCTR2014-002550-39-DE
(EUCTR)
20/10/201625/04/2016GZ/SAR402671 in Combination with Cerezyme in Adult Patients with Gaucher Disease Type 3A 208-week three-part, open-label, multicenter, multinational study of the safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of GZ/SAR402671 in combination with Cerezyme in adult patients with Gaucher disease type 3 - LEAP Gaucher disease
MedDRA version: 20.0;Level: PT;Classification code 10075699;Term: Gaucher's disease type III;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.0;Classification code 10075697;Term: Gaucher's disease type I;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genzyme CorporationNULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
15Phase 2United States;Germany;Japan;United Kingdom
203NCT03123523
(ClinicalTrials.gov)
October 18, 201612/4/2017Study 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, BordeauxNULLRecruiting18 YearsN/AAll55N/AFrance
204EUCTR2016-001988-36-DK
(EUCTR)
05/10/201611/07/2016A study, conducted in several sites, with a duration of 2 years to evaluate the Safety and Efficacy of a new drug named velmanase alfa used in children with Alpha-Mannosidosis below 6 years of ageA 24-month Multicenter, Open-label Phase II Trial Investigating the Safety and Efficacy of Repeated velmanase alfa (recombinant human alpha-mannosidase) Treatment in Pediatric Patients below 6 years of age with Alpha-Mannosidosis Alfa-mannosidosis
MedDRA version: 20.0;Level: LLT;Classification code 10032658;Term: Other specified disorders of carbohydrate transport and metabolism;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Velmanase alfa
INN or Proposed INN: VELMANASE ALFA
Other descriptive name: recombinant human alpha-mannosidase
Chiesi Farmaceutici S.p.A.NULLNot RecruitingFemale: yes
Male: yes
3Phase 2Austria;Denmark;Germany;Italy
205EUCTR2015-004438-93-DE
(EUCTR)
04/10/201610/05/2016A clinical study to investigate the study drug Arimoclomol in a double blind, randomised, placebo-controlled study in patients diagnosed with Niemann Pick disease type CArimoclomol prospective double blind, randomised, placebo-controlled study in patients diagnosed with Niemann Pick disease type C - Investigate study drug Arimoclomol with patients diagnosed with Niemann Pick disease type C. Niemann Pick disease type C
MedDRA version: 20.0;Level: PT;Classification code 10029403;Term: Niemann-Pick disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Arimoclomol (hard gelatine capsule)
Product Code: _
INN or Proposed INN: Arimoclomol citrate
Product Name: Arimoclomol (hard gelatine capsule)
Product Code: _
INN or Proposed INN: Arimoclomol citrate
Product Name: Arimoclomol (hard gelatine capsule)
INN or Proposed INN: Arimoclomol citrate
Product Name: Arimoclomol (HPMC capsule)
Product Code: _
INN or Proposed INN: Arimoclomol citrate
Product Name: Arimoclomol (HPMC capsule)
Product Code: _
INN or Proposed INN: Arimoclomol citrate
Product Name: Arimoclomol (HPMC capsule)
Product Code: _
INN or Proposed INN: Arimoclomol citrate
Orphazyme A/SNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
57Phase 2;Phase 3United States;France;Spain;Poland;Denmark;Germany;United Kingdom;Switzerland;Italy
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
206EUCTR2015-000104-26-PT
(EUCTR)
03/10/201603/05/2016A safety, tolerability and efficacy study in MPS 7 patients less than 5 years of age receiving enzyme (UX003) replacement by intravenous injectionAn Open-label Study of UX003 rhGUS Enzyme Replacement Therapy in MPS 7 Patients Less than 5 Years Old Mucopolysaccharidosis type 7 (MPS 7, Sly syndrome);Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]Ultragenyx Pharmaceutical Inc.NULLNot Recruiting Female: yes
Male: yes
15Phase 2United States;Portugal;Spain
207JPRN-UMIN000023517
2016/10/0101/10/2016A study on the efficacy and safety of cyclodextrin intrathecal long-term administration for Niemann-Pick disease type C Niemann-Pick disease type C2-hydroxypropyl-beta-cyclodextrin (HPBCD) 20mg/kg/dose, every 3-4 weeks, for three yearsNara Medical UniversityNULLPending4years-old6years-oldMale and Female1Not selectedJapan
208NCT03071341
(ClinicalTrials.gov)
October 201627/2/2017Extension Study Evaluating Long Term Safety and Activity of AGT-181 in Children With MPS IAn Extension Study Evaluating Long Term Safety and Activity of AGT-181 in Patients With Mucopolysaccharidosis I Who Were Previously Enrolled in Studies With AGT-181Mucopolysaccharidosis IDrug: AGT-181ArmaGen, IncNULLCompleted2 YearsN/AAll19Phase 1;Phase 2Brazil
209EUCTR2015-005761-23-GB
(EUCTR)
26/09/201603/08/2016A Phase I/II study to evaluate Trappsol Cyclo (hydroxypropyl-ß-cyclodextrin) in patients with Niemann-Pick disease type C (NPC-1) to assess what the drug does to the body, and what the body does to the drug, and the side effects and benefits experienced by patientsA Phase I/II study to evaluate the safety and pharmacokinetics of intravenous Trappsol Cyclo (HP-ß-CD) in patients with Niemann-Pick disease type C (NPC-1) and the pharmacodynamic effects of treatment upon markers of cholesterol metabolism and clinical outcomes Niemann-Pick disease type C
MedDRA version: 20.0;Level: PT;Classification code 10029403;Term: Niemann-Pick disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
CTD Holdings, Inc.NULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
12Phase 1;Phase 2Italy;United Kingdom;Sweden
210EUCTR2016-000378-38-HU
(EUCTR)
15/09/201611/07/2016Safety and effectiveness study comparing PRX-102 and Agalsidase Beta on Kidney function for patients with Fabry Disease who have previously been treated with Agalsidase BetaA Randomized, Double blind, Active Control Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta Fabry disease (a-galactosidase A deficiency)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: Pegunigalsidase alpha
Trade Name: Fabrazyme
Product Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Other descriptive name: N/A
Trade Name: Fabrazyme
Product Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Other descriptive name: N/A
Protalix Ltd.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
78Phase 3United States;Slovenia;Paraguay;Spain;Turkey;United Kingdom;Hungary;Czech Republic;Canada;Argentina;Belgium;Brazil;Australia;Norway;Netherlands;Germany
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
211EUCTR2015-001578-17-DE
(EUCTR)
12/09/201622/12/2015An Open-Label, Phase IV Study of Velaglucerase alfa on Bone Related Pathology in Adult, Treatment-Naïve Patients with Type 1 Gaucher DiseaseAn Open-label, Multicenter, Single-arm, Phase 4 Study of the Effect ofTreatment with Velaglucerase alfa on Bone-related Pathology inTreatment-naïve Patients with Type 1 Gaucher Disease Gaucher Disease
MedDRA version: 20.0;Level: PT;Classification code 10075697;Term: Gaucher's disease type I;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Trade Name: VPRIV 400 Units powder for solution of infusion
INN or Proposed INN: VELAGLUCERASE ALFA
Other descriptive name: Gene activated human glucocerebrosidase, velaglucerase alfa
Shire Human Genetic Therapies, Inc.NULLNot RecruitingFemale: yes
Male: yes
40Phase 4United States;Spain;Turkey;Israel;Germany;Italy;United Kingdom;India
212EUCTR2016-000378-38-GB
(EUCTR)
07/09/201608/07/2016Safety and effectiveness study comparing PRX-102 and Agalsidase Beta on Kidney function for patients with Fabry Disease who have previously been treated with Agalsidase BetaA Randomized, Double blind, Active Control Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta Fabry disease (a-galactosidase A deficiency)
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: Pegunigalsidase alpha
Trade Name: Fabrazyme
Product Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Other descriptive name: N/A
Trade Name: Fabrazyme
Product Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Other descriptive name: N/A
Protalix Ltd.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
78Phase 3United States;Slovenia;Paraguay;Spain;Turkey;United Kingdom;Czech Republic;Hungary;Canada;Argentina;Belgium;Brazil;Australia;Norway;Netherlands;Germany
213EUCTR2016-000378-38-ES
(EUCTR)
22/08/201615/07/2016Safety and effectiveness study comparing PRX-102 and Agalsidase Beta on Kidney function for patients with Fabry Disease who have previously been treated with Agalsidase BetaA Randomized, Double blind, Active Control Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta Fabry disease (a-galactosidase A deficiency)
MedDRA version: 19.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Pegunigalsidase alfa
Product Code: PRX-102
INN or Proposed INN: Pegunigalsidase alpha
Trade Name: Fabrazyme
Product Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Other descriptive name: N/A
Trade Name: Fabrazyme
Product Name: Fabrazyme
INN or Proposed INN: AGALSIDASE BETA
Other descriptive name: N/A
Protalix Ltd.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
78Phase 3United States;Paraguay;Spain;Turkey;United Kingdom;Czech Republic;Hungary;Canada;Belgium;Australia;Germany;Netherlands;Norway
214EUCTR2015-004438-93-ES
(EUCTR)
20/08/201615/07/2016A clinical study to investigate the study drug Arimoclomol in a double blind, randomised, placebo-controlled study in patients diagnosed with Niemann Pick disease type C.Arimoclomol prospective double blind, randomised, placebo-controlled study in patients diagnosed with Niemann Pick disease type C - Investigate study drug Arimoclomol with patients diagnosed with Niemann Pick disease type C. Niemann Pick disease type C
MedDRA version: 19.0;Level: PT;Classification code 10029403;Term: Niemann-Pick disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Arimoclomol
Product Code: _
INN or Proposed INN: Arimoclomol
Other descriptive name: _
Product Name: Arimoclomol
Product Code: _
INN or Proposed INN: Arimoclomol
Other descriptive name: _
Product Name: Arimoclomol
Product Code: _
INN or Proposed INN: Arimoclomol
Other descriptive name: _
Orphazyme ApSNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
46Phase 2;Phase 3United States;Spain;Denmark;Switzerland
215EUCTR2015-000753-20-NL
(EUCTR)
16/08/201624/08/2015A Phase 1/2 open label study in MPS IIIB subjects to investigate the long term safety and effect of SBC-103 given by IV infusion.A PHASE I/II OPEN LABEL STUDY IN MPS IIIB SUBJECTS TO INVESTIGATE THE SAFETY, BIODISTRIBUTION, PHARMACOKINETICS, AND PHARMACODYNAMICS/EFFICACY OF SBC-103 ADMINISTERED INTRAVENOUSLY Mucopolysaccharidosis III, type B (MPS IIIB), Sanfilippo B
MedDRA version: 19.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 19.0;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Name: Recombinant Human Alpha-N-Acetylglucosaminidase (rhNAGLU)
Product Code: SBC-103
INN or Proposed INN: not available
Other descriptive name: rhNAGLU
Product Name: 89 Zirconium Recombinant Human Alpha-N-Acetylglucosaminidase (rhNAGLU) (radiolabeled)
Product Code: 89Zr-SBC-103
INN or Proposed INN: not available
Other descriptive name: rhNAGLU radiolabelled
Alexion Pharmaceuticals, Inc.NULLNot RecruitingFemale: yes
Male: yes
4Phase 2Netherlands
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
216EUCTR2015-003904-21-ES
(EUCTR)
01/08/201615/04/2016Gene transfer clinical trial for Mucopolysaccharidosis IIIAPhase I/II gene transfer clinical trial of scAAV9.U1a.hSGSH for Mucopolysaccharidosis (MPS) IIIA MPS IIIA is a devastating lysosomal storage disease, caused by a N-sulfoglucosamine sulfohydrolase gene defect. Infants with MPS IIIA appear normal at birth, but the disease is relentlessly progressive, with deterioration of social and adaptive abilities, neurocognitive decline, and premature death. Death typically occurs by end of the second or beginning of the third decade. Quite importantly, there is no treatment currently available for the disease.;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]Product Name: scAAV9.U1A.SGSH
Product Code: scAAV9.U1A.SGSH
INN or Proposed INN: scAAV9.U1A.SGSH
Other descriptive name: scAAV9.U1A.SGSH
Abeona Therapeutics IncNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
18Phase 1;Phase 2United States;Spain;Australia
217JPRN-JMA-IIA00350
29/07/201604/06/2018Phase I/II clinical trial of idursulfase beta for mucopolysaccharidosis type IIPhase I/II clinical trial of idursulfase beta for mucopolysaccharidosis type II Patients at the age between 6 months and 15 years with severe type mucopolysaccharidosis type II intravenously administered isursulfase at least for 24 weeksIntervention type:DRUG. Intervention1:BHP001, Dose form:INJECTION, Route of administration:OTHER.Torayuki OkuyamaHaruo ShintakuCompleted>=6 MONTHS<15 YEARSMale6Phase 1;Phase 2Japan
218EUCTR2015-004846-25-BE
(EUCTR)
15/07/201630/03/2016Anti-oxLDL IgM antibodies as a novel therapy for metabolic lipid diseasesImmunization against oxLDL in patients with lysosomal lipid diseases and associated metabolic disorders Familial hypercholesterolemia Niemann-Pick disease type B (NPB)Niemann-Pick disease type C (NPC)Partial lipodystrophy in children and adults;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03]Trade Name: Prevenar13
Product Name: Prevenar13
Maastricht UniversityNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
Phase 4Belgium
219NCT02800070
(ClinicalTrials.gov)
July 201615/4/2016Autologous Stem Cell Transplantation of Cells Engineered to Express Alpha-Galactosidase A in Patients With Fabry DiseaseClinical Pilot Study of Autologous Stem Cell Transplantation of Cluster of Differentiation 34 Positive (CD34+) Cells Engineered to Express Alpha-Galactosidase A in Patients With Fabry DiseaseFabry DiseaseBiological: Lentivirus Alpha-gal A transduced stem cellsUniversity Health Network, TorontoOzmosis Research Inc.Active, not recruiting18 Years50 YearsMale5Phase 1Canada
220NCT02574286
(ClinicalTrials.gov)
June 29, 20169/10/2015Study of the Effect of Velaglucerase Alfa (VPRIV®) on Bone-related Pathology in Treatment-naïve Participants With Type 1 Gaucher DiseaseAn Open-label, Multicenter, Single-arm, Phase 4 Study of the Effect of Treatment With Velaglucerase Alfa on Bone-related Pathology in Treatment-naïve Patients With Type 1 Gaucher DiseaseGaucher DiseaseDrug: Velaglucerase alfa;Dietary Supplement: Vitamin DShireNULLCompleted18 Years70 YearsAll21Phase 4United States;Israel;Spain;United Kingdom
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
221NCT02612129
(ClinicalTrials.gov)
June 14, 201612/11/2015Arimoclomol 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: PlaceboOrphazymeNULLActive, not recruiting2 Years18 YearsAll50Phase 2;Phase 3United States;Denmark;France;Germany;Italy;Poland;Spain;Switzerland;United Kingdom
222NCT02795676
(ClinicalTrials.gov)
June 20162/6/2016Study of the Safety and Efficacy of PRX-102 Compared to Agalsidase Beta on Renal FunctionA Randomized, Double Blind, Active Control Study of the Safety and Efficacy of PRX-102 Compared to Agalsidase Beta on Renal Function in Patients With Fabry Disease Previously Treated With Agalsidase BetaFabry DiseaseBiological: PRX-102 (pegunigalsidase alfa);Biological: agalsidase betaProtalixNULLActive, not 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
223EUCTR2015-004438-93-GB
(EUCTR)
16/05/201624/10/2016A clinical study to investigate the study drug Arimoclomol in a double blind, randomised, placebo-controlled study in patients diagnosed with Niemann Pick disease type C.Arimoclomol prospective double blind, randomised, placebo-controlled study in patients diagnosed with Niemann Pick disease type C - Investigate study drug Arimoclomol with patients diagnosed with Niemann Pick disease type C. Niemann Pick disease type C
MedDRA version: 20.0;Level: PT;Classification code 10029403;Term: Niemann-Pick disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Arimoclomol
Product Code: _
INN or Proposed INN: Arimoclomol
Other descriptive name: ARIMOCLOMOL CITRATE
Product Name: Arimoclomol
Product Code: _
INN or Proposed INN: Arimoclomol
Other descriptive name: ARIMOCLOMOL CITRATE
Product Name: Arimoclomol
INN or Proposed INN: ARIMOCLOMOL
Other descriptive name: ARIMOCLOMOL CITRATE
Orphazyme A/SNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
57Phase 2;Phase 3United States;Spain;Poland;Denmark;Germany;Italy;Switzerland;United Kingdom
224EUCTR2015-004438-93-DK
(EUCTR)
09/05/201611/03/2016A clinical study to investigate the study drug Arimoclomol in a double blind, randomised, placebo-controlled study in patients diagnosed with Niemann Pick disease type C.Arimoclomol prospective double blind, randomised, placebo-controlled study in patients diagnosed with Niemann Pick disease type C - Investigate study drug Arimoclomol with patients diagnosed with Niemann Pick disease type C. Niemann Pick disease type C
MedDRA version: 20.0;Level: PT;Classification code 10029403;Term: Niemann-Pick disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Arimoclomol
Product Code: _
INN or Proposed INN: Arimoclomol citrate
Product Name: Arimoclomol
Product Code: _
INN or Proposed INN: Arimoclomol citrate
Product Name: Arimoclomol
Product Code: _
INN or Proposed INN: ARIMOCLOMOL
Orphazyme A/SNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
57Phase 2;Phase 3United States;Spain;Poland;Denmark;Germany;United Kingdom;Italy;Switzerland
225NCT02843334
(ClinicalTrials.gov)
May 201621/7/2016Study of the Prevalence of Fabry Disease in French Dialysis PatientsStudy of the Prevalence of Fabry Disease in French Dialysis PatientsFabry Disease;End Stage Renal Disease;Renal DialysisBiological: Dried blood spot (DBS) samplingHospices Civils de LyonNULLRecruiting18 Years70 YearsBoth6000N/AFrance
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
226EUCTR2015-000359-26-ES
(EUCTR)
29/04/201603/02/2016First study in patients to assess safety, tolerability and inittial efficacy of the new gene therapy product to treat MPSIIIA.Phase I/II safety, tolerability and initial efficacy study of adeno-associated viral vector serotype 9 containing human sulfamidase gene after intracerebroventricular administration to patients with MPSIIIA. Mucopolysaccharidosis type IIIA (Sanfilippo A syndrome) is an inherited lysosomal storage disease caused by a specific lysosomal enzyme deficiency that leads to intracellular accumulation of the GAG heparan sulphate (HS). It is caused by a deficiency of one of the four enzymes involved in the lysosomal degradation of HS. In the case of subtype A is the heparan N-sulfatase (SGSH).;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]Product Name: Vector viral adenoasociado de serotipo 9 que contiene el gen de la sulfamidasa humana
Product Code: AAV9-CAG-coh-SGSH
INN or Proposed INN: Vector viral adenoasociado de serotipo 9 que contiene el gen de la sulfamidasa humana
Other descriptive name: Vector viral adenoasociado de serotipo 9 que contiene el gen de la sulfamidasa humana
Laboratorios del Dr. Esteve, S.A.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
Phase 1;Phase 2Spain
227EUCTR2012-003775-20-GB
(EUCTR)
25/04/201606/06/2016A safety and efficacy extension of study HGT-MLD-070 in Children with Metachromatic Leukodystrophy recieving enzyme (HGT-1110) replacement by intrathecal injectionAn Open-label Extension of Study HGT-MLD-070 Evaluating Long Term Safety and Efficacy of Intrathecal Administration of HGT-1110 in Patients with Metachromatic Leukodystrophy Treatment of Metachromatic Leukodystrophy
MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Code: SHP611
INN or Proposed INN: Not available
Other descriptive name: Recombinant Human Arylsulfatase A (rhASA)
Shire Human Genetics Therapies IncNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
24Phase 1;Phase 2France;Czech Republic;Brazil;Denmark;Australia;Germany;Japan;Italy;United Kingdom
228EUCTR2015-001875-32-PT
(EUCTR)
18/04/201619/01/2016A long-term safety and efficacy study in MPS 7 patients receiving enzyme (UX003) replacement by intravenous injectionA Long-Term Open-Label Treatment and Extension Study of UX003 rhGUS Enzyme Replacement Therapy in Subjects with MPS 7 Mucopolysaccharidosis type 7 ( MPS 7, Sly syndrome);Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]Ultragenyx Pharmaceutical Inc.NULLNot Recruiting Female: yes
Male: yes
12Phase 3United States;Portugal;Mexico;Brazil
229EUCTR2013-003400-39-ES
(EUCTR)
14/04/201617/02/2016A Phase 1/2 open label study in MPS IIIB subjects to investigate the long-term safety and effect of SBC-103 given by IV infusion.A Phase I/II Open Label Study in MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously Mucopolysaccharidosis III, type B (MPS IIIB), Sanfilippo B
MedDRA version: 18.1;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 18.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Name: Recombinant Human Alpha-N-Acetylglucosaminidase (rhNAGLU)
Product Code: SBC-103
INN or Proposed INN: not available
Other descriptive name: rhNAGLU
Alexion Pharmaceuticals, Inc.NULLNot RecruitingFemale: yes
Male: yes
9Phase 1United States;Spain;United Kingdom
230EUCTR2014-004804-31-DE
(EUCTR)
12/04/201606/08/2015A long-term study on changes in height and weight of children with MPS II receiving Elaprase and who started the treatment before the age of 6 years.A Long-Term, Open-Label, Multicenter, Phase IV Study to Assess Longitudinal Changes on Height and Weight in Patients with MPS II Who Are Receiving Elaprase and Started Treatment With Elaprase at <6 Years of Age Hunter syndrome (Mucopolysaccharidosis II, [MPS II]);Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]Trade Name: Elaprase
INN or Proposed INN: IDURSULFASE
Shire Human Genetic Therapies, IncNULLAuthorised-recruitment may be ongoing or finishedFemale: no
Male: yes
20Phase 4United States;Serbia;Philippines;Saudi Arabia;Thailand;Malaysia;Costa Rica;Oman;Dominican Republic;Germany;Vietnam
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
231EUCTR2015-000104-26-ES
(EUCTR)
05/04/201603/02/2016A safety, tolerability and efficacy study in MPS 7 patients less than 5 years of age receiving enzyme (UX003) replacement by intravenous injectionAn Open-label Study of UX003 rhGUS Enzyme Replacement Therapy in MPS 7 Patients Less than 5 Years Old Mucopolysaccharidosis type 7 (MPS 7, Sly syndrome);Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]Ultragenyx Pharmaceutical Inc.NULLNot Recruiting Female: yes
Male: yes
15Phase 2Portugal;United States;Spain
232NCT02754076
(ClinicalTrials.gov)
April 201627/2/2016A Treatment Study of Mucopolysaccharidosis Type IIIBA Phase 1/2 Open-Label Dose-Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Efficacy of Intracerebroventricular AX 250 in Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B)MPS III B;Mucopolysaccharidosis Type IIIBDrug: AX 250Allievex CorporationNULLCompleted1 Year10 YearsAll23Phase 1;Phase 2United States;Colombia;Germany;Spain;Taiwan;Turkey;United Kingdom
233EUCTR2015-001985-25-DE
(EUCTR)
22/03/201616/11/2015Phase 1/2 Study to Evaluate the Safety and Efficacy of AX 250 in Patients with MPS IIIBA Phase 1/2 Open-Label Dose-Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular AX 250 in Patients with Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) Mucopolysaccharidosis Type IIIB (Sanfilippo Syndrome Type B, MPS IIIB)
MedDRA version: 20.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: N/A
Product Code: AX 250
INN or Proposed INN: Not available
Other descriptive name: RHNAGLU-IGF2
Allievex CorporationNULLNot RecruitingFemale: yes
Male: yes
33Phase 1;Phase 2Taiwan;Spain;Turkey;Australia;Colombia;Germany;United Kingdom
234EUCTR2015-001985-25-ES
(EUCTR)
02/03/201613/01/2016Phase 1/2 Study to Evaluate the Safety and Efficacy of BMN 250 in Patients with MPS IIIBA Phase 1/2 Open-Label Dose-Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 250 in Patients with Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) Mucopolysaccharidosis Type IIIB (Sanfilippo Syndrome Type B, MPS IIIB)
MedDRA version: 18.1;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 18.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: N/A
Product Code: BMN 250
INN or Proposed INN: Not available
Other descriptive name: RHNAGLU-IGF2
BioMarin Pharmaceutical Inc.NULLNot RecruitingFemale: yes
Male: yes
33Phase 1;Phase 2Taiwan;Brazil;Spain;Turkey;Australia;Germany;Colombia;United Kingdom
235NCT02716246
(ClinicalTrials.gov)
March 201617/3/2016Phase 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, IncNULLRecruiting6 MonthsN/AAll22Phase 1;Phase 2United States;Australia;Spain;France;Germany
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
236EUCTR2015-001578-17-ES
(EUCTR)
25/02/201613/01/2016An Open-Label, Phase IV Study of Velaglucerase alfa on Bone Related Pathology in Adult, Treatment-Naïve Patients with Type 1 Gaucher DiseaseAn Open-label, Multicenter, Single-arm, Phase 4 Study of the Effect of Treatment with Velaglucerase alfa on Bone-related Pathology in Treatment-naïve Patients with Type 1 Gaucher Disease Gaucher Disease
MedDRA version: 18.1;Level: PT;Classification code 10075697;Term: Gaucher's disease type I;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Trade Name: VPRIV 400 Units powder for solution of infusion
INN or Proposed INN: VELAGLUCERASE ALFA
Other descriptive name: Gene activated human glucocerebrosidase, velaglucerase alfa
Shire Human Genetic Therapies, Inc.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
40Phase 4United States;Canada;Spain;Israel;Germany;Italy;United Kingdom
237EUCTR2015-001578-17-GB
(EUCTR)
17/02/201621/12/2015An Open-Label, Phase IV Study of Velaglucerase alfa on Bone Related Pathology in Adult, Treatment-Naïve Patients with Type 1 Gaucher DiseaseAn Open-label, Multicenter, Single-arm, Phase 4 Study of the Effect ofTreatment with Velaglucerase alfa on Bone-related Pathology inTreatment-naïve Patients with Type 1 Gaucher Disease Gaucher Disease
MedDRA version: 20.0;Level: PT;Classification code 10075697;Term: Gaucher's disease type I;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Trade Name: VPRIV 400 Units powder for solution of infusion
INN or Proposed INN: VELAGLUCERASE ALFA
Other descriptive name: Gene activated human glucocerebrosidase, velaglucerase alfa
Shire Human Genetic Therapies, Inc.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
19Phase 4United States;Canada;Spain;Israel;Germany;United Kingdom
238NCT02678689
(ClinicalTrials.gov)
February 201615/1/2016A Safety, Tolerability, and Efficacy Study of Intracerebroventricular BMN 190 in Pediatric Patients < 18 Years of Age With CLN2 DiseaseA Phase 2, Open-Label, Multicenter Study to Evaluate Safety, Tolerability, and Efficacy of Intracerebroventricular BMN 190 in Pediatric Patients < 18 Years of Age With CLN2 DiseaseJansky-Bielschowsky Disease;Batten Disease;Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2;CLN2 Disease;CLN2 DisorderBiological: BMN190 recombinant human tripeptidyl peptidase-1 (rhTPP1);Device: Intraventricular access deviceBioMarin PharmaceuticalNULLActive, not recruitingN/A17 YearsAll14Phase 2United States;Germany;Italy;United Kingdom
239NCT02156674
(ClinicalTrials.gov)
January 26, 20163/6/2014Naglazyme After Allo Transplant for Maroteaux-Lamy SyndromeStudy of Administration of Intravenous Naglazyme® Following Allogeneic Transplantation for Maroteaux-Lamy SyndromeMaroteaux-Lamy SyndromeDrug: Naglazyme®Masonic Cancer Center, University of MinnesotaBioMarin PharmaceuticalActive, not recruiting3 YearsN/AAll1N/AUnited States
240EUCTR2015-000891-85-DE
(EUCTR)
19/01/201604/11/2015Phase 2 study to evaluate safety and efficacy of BMN 190 in patients with CLN2A Phase 2 Open-Label Study to Evaluate Safety, Tolerability, and Efficacy of Intracerebroventricular BMN 190 in Pediatric Patients < 18 years of age with CLN2 Disease Neuronal Ceroid Lipofuscinosis type 2 (CLN2) disease
MedDRA version: 20.0;Level: LLT;Classification code 10052074;Term: Neuronal ceroid lipofuscinosis NOS;System Organ Class: 100000157084;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Trade Name: Brineura
Product Name: cerliponase alfa
Product Code: BMN 190
INN or Proposed INN: cerliponase alfa
Other descriptive name: recombinant human tripeptidyl peptidase-1
BioMarin Pharmaceutical Inc.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
10Phase 2Germany;Italy;United Kingdom
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
241NCT04120506
(ClinicalTrials.gov)
January 10, 201610/8/2018Long Term Impact of Rapid Intravenous Infusion of Velaglucerase Alfa (VPRIV)Long Term Impact of Rapid Intravenous Infusion of Velaglucerase Alfa (VPRIV) in Adult Patients With Type 1 Gaucher Disease, Previously on a Stable Dose of VPRIV for at Least 3 Months: an Extension of the Investigator-initiated StudyGaucher Disease, Type 1Drug: VPRIVShaare Zedek Medical CenterShireActive, not recruiting6 Years75 YearsAll15Phase 4NULL
242NCT03596398
(ClinicalTrials.gov)
January 1, 201615/6/2018Epidemiological Study of Fabry Disease in Taiwan Young Stroke PatientsEpidemiological Study of Fabry Disease in Taiwan Young Stroke PatientsFabry DiseaseGenetic: GLA geneChiayi Christian HospitalSanofiEnrolling by invitation20 Years55 YearsAll1000NULL
243NCT02030015
(ClinicalTrials.gov)
December 22, 201517/12/2013Synergistic Enteral Regimen for Treatment of the GangliosidosesSynergistic Enteral Regimen for Treatment of the Gangliosidoses (Syner-G)GM1 Gangliosidoses;GM2 Gangliosidoses;Tay-Sachs Disease;Sandhoff DiseaseDrug: miglustat;Other: Ketogenic DietUniversity of MinnesotaRare Diseases Clinical Research Network;National Center for Advancing Translational Science (NCATS);National Institute of Neurological Disorders and Stroke (NINDS);National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK);Lysosomal Disease NetworkRecruitingN/A204 MonthsAll30Phase 4United States
244EUCTR2015-003031-35-GB
(EUCTR)
20/11/201527/10/2015Immune Tolerance Induction with Methotrexate in Hurler SyndromeA Single Centre Study Investigating the Safety and Efficacy of an Immune Modulation Regimen in Mitigating the Alloimmune Response to Intravenous Laronidase in Infants With Severe Mucopolysaccharidosis type I (Hurler syndrome) Prior to Haematopoietic Stem Cell Transplantation - Immune Tolerance Induction with Methotrexate in Hurler Syndrome Severe Mucopolysaccharidosis Type I (Hurler syndrome, MPS IH)
MedDRA version: 18.1;Level: LLT;Classification code 10028094;Term: Mucopolysaccharidosis IH;System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Central Manchester University Hospitals NHS Foundation TrustNULLNot Recruiting Female: yes
Male: yes
4Phase 3United Kingdom
245NCT02432144
(ClinicalTrials.gov)
November 10, 201522/4/2015A Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Therapy in Subjects With Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7)A Long-Term Open-Label Treatment and Extension Study of UX003 rhGUS Enzyme Replacement Therapy in Subjects With MPS 7Sly Syndrome;MPS VII;Mucopolysaccharidosis;Mucopolysaccharidosis VIIDrug: UX003Ultragenyx Pharmaceutical IncNULLCompleted5 YearsN/AAll12Phase 3United States;Brazil;Mexico;Portugal
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
246EUCTR2015-001985-25-GB
(EUCTR)
06/11/201530/09/2015Phase 1/2 Study to Evaluate the Safety and Efficacy of AX 250 in Patients with MPS IIIBA Phase 1/2 Open-Label Dose-Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular AX 250 in Patients with Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) Mucopolysaccharidosis Type IIIB (Sanfilippo Syndrome Type B, MPS IIIB)
MedDRA version: 20.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: N/A
Product Code: AX 250
INN or Proposed INN: Not available
Other descriptive name: RHNAGLU-IGF2
Allievex CorporationNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
33Phase 1;Phase 2Taiwan;Spain;Turkey;Australia;Germany;Colombia;United Kingdom
247NCT02597114
(ClinicalTrials.gov)
November 20153/11/2015Extension Study of AGT-181-102 to Evaluate Long Term Safety and Activity of AGT-181An Extension Study of AGT-181-102 Evaluating Safety and Glycosaminoglycans (GAGs) in Adult Patients With Hurler-Scheie or Scheie Syndrome Who Have Completed 8-Weeks of Dosing With AGT-181 in Study AGT-181-102Mucopolysaccharidosis IDrug: AGT-181ArmaGen, IncNULLCompleted18 YearsN/AAll3Phase 1NULL
248NCT02536755
(ClinicalTrials.gov)
October 28, 201527/8/2015Study 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 CompanyNULLActive, not recruiting18 YearsN/AAll32Phase 3Canada;Russian Federation
249NCT02455622
(ClinicalTrials.gov)
October 28, 201520/5/2015Long-term Evaluation on Height and Weight in Patients With MPS II Who Started Treatment at < 6 Years of AgeA Long-Term, Open-Label, Multicenter, Phase IV Study to Assess Longitudinal Changes on Height and Weight in Patients With MPS II Who Are Receiving Elaprase and Started Treatment With Elaprase at <6 Years of AgeHunter SyndromeDrug: Elaprase for intravenous (IV) infusionShireNULLActive, not recruitingN/A6 YearsMale21Phase 4United States;Dominican Republic;Germany;Malaysia;Philippines;Serbia;Thailand;Vietnam;Oman;Saudi Arabia
250NCT02412787
(ClinicalTrials.gov)
October 28, 20151/4/2015Study of Long Term Safety and Clinical Outcomes of Idursulfase IT and Elaprase Treatment in Pediatric Participants Who Have Completed Study HGT-HIT-094An Open Label Extension of Study HGT-HIT-094 Evaluating Long Term Safety and Clinical Outcomes of Intrathecal Idursulfase Administered in Conjunction With Elaprase® in Patients With Hunter Syndrome and Cognitive ImpairmentHunter SyndromeDrug: Idursulfase-IT;Drug: ElapraseShireNULLActive, not recruitingN/A18 YearsMale49Phase 2;Phase 3United States;Australia;Canada;France;Mexico;Spain;United Kingdom;Argentina;Colombia
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
251EUCTR2014-005194-37-DE
(EUCTR)
19/10/201528/04/2015A non-therapeutic study in patients with Niemann-Pick disease type C in order to characterise the individual patient disease profile and historic signo-symptomatology progression patternA prospective non-therapeutic study in patients diagnosed with Niemann-Pick disease type C in order to characterise the individual patient disease profile and historic signo-symptomatology progression pattern - Characterisation of Niemann-Pick disease type C Niemann-Pick disease - type C
MedDRA version: 18.0;Level: PT;Classification code 10029403;Term: Niemann-Pick disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Trade Name: MIglustat
Product Name: Zavesca
Product Code: A16AX06
INN or Proposed INN: MIGLUSTAT
Orphazyme ApSNULLNot RecruitingFemale: yes
Male: yes
40Phase 1Spain;Germany;Switzerland
252NCT02618512
(ClinicalTrials.gov)
October 15, 201521/10/2015A Open Label Study in Previously Studied, SBC-103 Treatment Naïve MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered IntravenouslyA Phase I/II Open Label Study in Previously Studied, SBC-103 Treatment Naïve MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered IntravenouslyMucopolysaccharidosis III, Type B (MPS IIIB);Sanfilippo BDrug: SBC-103Alexion PharmaceuticalsNULLTerminated5 YearsN/AAll3Phase 1;Phase 2United Kingdom
253EUCTR2014-004995-49-GB
(EUCTR)
14/10/201508/05/2015Evaluation of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-Naïve Adult Male Patients with Fabry DiseaseAn Open-label, Multicenter, Multinational Extension Study of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Adult Male Patients Diagnosed with Fabry Disease Fabry disease
MedDRA version: 18.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Hormonal diseases [C19]
Product Code: SAR402671, GZ402671 or GZ/SAR402671
Other descriptive name: Genz-682452-AU
Product Code: SAR402671, GZ402671 or GZ/SAR402671
Other descriptive name: Genz-682452-AU
Genzyme CorporationNULLNot RecruitingFemale: no
Male: yes
8Phase 2France;United States;Czech Republic;Poland;Russian Federation;United Kingdom
254EUCTR2015-003105-41-GB
(EUCTR)
13/10/201508/09/2015Treatment for Nonsense Mutation Mucopolysaccharidosis Type ICNS Unmet Medical Need in Mucopolysaccharidosis: A Phase 2 Safety and Pharmacokinetics Study of Ataluren (COMPASS) - COMPASS Nonsense mutation Mucopolysaccharidosis Type I
MedDRA version: 18.1;Level: PT;Classification code 10056886;Term: Mucopolysaccharidosis I;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
PTC Therapeutics Inc.NULLNot Recruiting Female: yes
Male: yes
5Phase 2United Kingdom
255EUCTR2014-003198-40-DE
(EUCTR)
06/10/201507/08/2015Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of rhASM in Pediatric Patients <18 Years of Age with Acid Sphingomyelinase DeficiencyA Phase 1/2, Multi-Center, Open-Label, Ascending Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Exploratory Efficacy of Recombinant Human Acid Sphingomyelinase in Pediatric Patients Aged <18 Years With Acid Sphingomyelinase DeficiencyRevised title further to the protocol amendment 1A phase 1/2, multi-center, open-label, ascending dose study to evaluate the safety, tolerability, pharmacokinetics, pharmacodynamics and exploratory efficacy of olipudase afa in pediatric patients aged <18 years with acid sphingomyelinase deficiency Patients with acid sphingomyelinase deficiency (Niemann-Pick disease)
MedDRA version: 20.1;Level: LLT;Classification code 10041515;Term: Sphingomyelin lipidosis;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Olipudase alfa (rhASM)
Product Code: GZ402665
INN or Proposed INN: Olipudase alfa
Other descriptive name: RECOMBINANT HUMAN ACID SPHINGOMYELINASE (rhASM)
Genzyme CorporationNULLNot RecruitingFemale: yes
Male: yes
20Phase 2United States;France;Brazil;Germany;United Kingdom;Italy
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
256NCT02534844
(ClinicalTrials.gov)
October 201518/8/2015VTS-270 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;Other: ShamVtesse, Inc., a Mallinckrodt Pharmaceuticals CompanyNULLActive, not recruiting4 Years21 YearsAll51Phase 2;Phase 3United States;Australia;France;Germany;New Zealand;Singapore;Spain;Turkey;United Kingdom
257NCT03053089
(ClinicalTrials.gov)
October 20159/2/2017Safety and Dose Ranging Study of Human Insulin Receptor MAb-IDUA Fusion Protein in Adults and Children With MPS IA Two-Stage, Phase 1/2, Open-Label Study of the Human Insulin Receptor Monoclonal Antibody-Human Alpha-L-iduronidase (HIRMAb-IDUA) Fusion Protein, AGT-181 in Patients With Mucopolysaccharidosis I (MPS I, Hurler Syndrome)Mucopolysaccharidosis IDrug: AGT-181ArmaGen, IncNULLCompleted2 YearsN/AAll21Phase 1;Phase 2Brazil
258EUCTR2014-003960-20-IT
(EUCTR)
16/09/201505/11/2020An Extension Study to Evaluate the Safety and Efficacy of HGT-1410 Administration in Pediatric Patients with Sanfilippo Syndrome Type AAn Open-Label Extension of Study HGT-SAN-093 Evaluating the Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration via an Intrathecal Drug Delivery Device in Pediatric Patients with Mucopolysaccharidosis Type IIIA Disease - NA Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 20.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Recombinant human heparan Nsulfatase (rhHNS)
Product Code: [HGT-1410]
INN or Proposed INN: NA
Other descriptive name: Recombinant human heparan N-sulfatase
SHIRE HUMAN GENETIC THERAPIES, INCNULLNot RecruitingFemale: yes
Male: yes
17Phase 2United States;France;Spain;Netherlands;Germany;United Kingdom;Italy
259EUCTR2014-005544-18-GB
(EUCTR)
16/09/201517/08/2015An Extension of the PB-102-F02 study with PRX-102 in adult patients with Fabry Disease.A Multi Center Extension Study of PRX-102 Administered by Intravenous Infusions Every 2 Weeks for 24 Months to Adult Fabry Patients. - PB102F03: Extension Study of PRX-102 in Fabry Disease Fabry disease
MedDRA version: 18.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: PRX-102
Product Code: PRX-102
INN or Proposed INN: PRX-102
Protalix Ltd.NULLNot RecruitingFemale: yes
Male: yes
16Phase 1;Phase 2United States;Paraguay;Spain;United Kingdom
260NCT02536911
(ClinicalTrials.gov)
September 201528/8/2015A Study of the Effects of Hepatic Impairment on the Pharmacokinetics and Tolerability of Eliglustat TartrateAn Open-label Pharmacokinetic and Tolerability Study of Eliglustat Tartrate Given as a Single Dose in Subjects With Mild and Moderate Hepatic Impairment, and in Matched Subjects With Normal Hepatic FunctionGaucher DiseaseDrug: eliglustatGenzyme, a Sanofi CompanyNULLCompleted18 Years79 YearsAll24Phase 1United States
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
261NCT02536937
(ClinicalTrials.gov)
September 201528/8/2015A Study of the Effects of Renal Impairment on the Pharmacokinetics and Tolerability of Eliglustat TartrateAn Open-label Two-stage Pharmacokinetic and Tolerability Study of Eliglustat Tartrate Given as a Single Dose in Subjects With Mild, Moderate and Severe Renal Impairment, and in Matched Subjects With Normal Renal FunctionGaucher DiseaseDrug: eliglustatSanofiNULLCompleted18 Years79 YearsAll32Phase 1United States
262NCT02583672
(ClinicalTrials.gov)
September 201521/8/2015Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1)Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1): Potential Use of Antioxidant/Anti-inflammatory MedicationsGaucher Disease Type 1Drug: N-acetylcysteineUniversity of MinnesotaRare Diseases Clinical Research Network;National Center for Advancing Translational 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
263EUCTR2014-003960-20-NL
(EUCTR)
18/08/201505/03/2015An Extension Study to Evaluate the Safety and Efficacy of HGT-1410 Administration in Pediatric Patients with Sanfilippo Syndrome Type AAn Open-Label Extension of Study HGT-SAN-093 Evaluating theSafety and Efficacy Study of HGT-1410 (Recombinant HumanHeparan N Sulfatase) Administration via an Intrathecal DrugDelivery Device in Pediatric Patients with MucopolysaccharidosisType IIIA Disease Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 20.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Recombinant human heparan N-sulfatase (rhHNS)
Product Code: HGT-1410
INN or Proposed INN: Not available
Other descriptive name: Recombinant human heparan N-sulfatase
Shire Human Genetic Therapies, Inc.NULLNot RecruitingFemale: yes
Male: yes
17Phase 2United States;France;Spain;Germany;Netherlands;United Kingdom;Italy
264EUCTR2014-003960-20-GB
(EUCTR)
10/08/201501/04/2015An Extension Study to Evaluate the Safety and Efficacy of HGT-1410 Administration in Pediatric Patients with Sanfilippo Syndrome Type A An Open-Label Extension of Study HGT-SAN-093 Evaluating the Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration via an Intrathecal Drug Delivery Device in Pediatric Patients with Mucopolysaccharidosis Type IIIA Disease Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 19.1;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 19.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Shire Human Genetic Therapies, Inc.NULLNot Recruiting Female: yes
Male: yes
17Phase 2France;United States;Spain;Netherlands;Germany;Italy;United Kingdom
265EUCTR2015-001983-20-GB
(EUCTR)
06/08/201502/06/2015A Phase 1/2 open label study in MPS IIIB subjects to investigate the long term safety and effect of SBC-103 given by IV infusion.A Phase I/II Open Label Study in Previously Studied, SBC-103 Treatment Naïve MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously Mucopolysaccharidosis III, type B (MPS IIIB), Sanfilippo B
MedDRA version: 19.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 19.0;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Alexion Pharmaceuticals, IncNULLNot Recruiting Female: yes
Male: yes
5Phase 2United Kingdom
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
266NCT02376751
(ClinicalTrials.gov)
August 201525/2/2015An Expanded Access Protocol for Sebelipase Alfa for Patients With Lysosomal Acid Lipase DeficiencyAN EXPANDED ACCESS PROTOCOL FOR SEBELIPASE ALFA FOR PATIENTS WITH LYSOSOMAL ACID LIPASE DEFICIENCYLysosomal Acid Lipase DeficiencyDrug: sebelipase alfaAlexion PharmaceuticalsNULLNo longer available8 MonthsN/ABothN/ANULL
267EUCTR2014-004995-49-PL
(EUCTR)
28/07/201515/06/2015Evaluation of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-Naïve Adult Male Patients with Fabry DiseaseAn Open-label, Multicenter, Multinational Extension Study of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Adult Male Patients Diagnosed with Fabry Disease Fabry disease
MedDRA version: 18.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Hormonal diseases [C19]
Genzyme CorporationNULLNot Recruiting Female: no
Male: yes
8Phase 2France;United States;Czech Republic;Poland;Russian Federation;United Kingdom
268NCT02418455
(ClinicalTrials.gov)
July 21, 201512/4/2015Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Treatment in Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7) Patients Less Than 5 Years of AgeAn Open-label Study of UX003 rhGUS Enzyme Replacement Therapy in MPS 7 Patients Less Than 5 Years OldSly Syndrome;MPS VII;Mucopolysaccharidosis;Mucopolysaccharidosis VIIDrug: UX003Ultragenyx Pharmaceutical IncNULLCompletedN/A5 YearsAll8Phase 2United States;Portugal;Spain
269EUCTR2014-005194-37-ES
(EUCTR)
13/07/201508/05/2015A non-therapeutic study in patients with Niemann-Pick disease type C in order to characterise the individual patient disease profile and historic signo-symptomatology progression patternA prospective non-therapeutic study in patients diagnosed with Niemann-Pick disease type C in order to characterise the individual patient disease profile and historic signo-symptomatology progression pattern - Characterisation of Niemann-Pick disease type C Niemann-Pick disease - type C
MedDRA version: 18.0;Level: PT;Classification code 10029403;Term: Niemann-Pick disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Trade Name: MIglustat
Product Name: Zavesca
Product Code: A16AX06
INN or Proposed INN: MIGLUSTAT
Orphazyme ApSNULLNot RecruitingFemale: yes
Male: yes
40Phase 1Spain;Germany;Switzerland
270NCT02489344
(ClinicalTrials.gov)
July 7, 201530/6/2015Evaluation of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-Naïve Adult Male Patients With Fabry DiseaseAn Open-label, Multicenter, Multinational Extension Study of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Adult Male Patients Diagnosed With Fabry DiseaseFabry DiseaseDrug: GZ/SAR402671Genzyme, a Sanofi CompanyNULLCompleted18 YearsN/AMale8Phase 2United States;France;Poland;Russian Federation;United Kingdom
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
271NCT02371226
(ClinicalTrials.gov)
July 201519/2/2015Safety and Dose Ranging Study of Insulin Receptor MAb-IDUA Fusion Protein in Patients With MPS IA Phase 1 Safety and Dose-Finding Study of a Human Insulin Receptor Monoclonal Antibody-Human Alpha-L-iduronidase (HIRMAb-IDUA) Fusion Protein, AGT-181 in Adult Patients With Mucopolysaccharidosis I (MPS I, Hurler Syndrome)Mucopolysaccharidosis IDrug: AGT-181 (HIRMAb-IDUA)ArmaGen, IncNULLActive, not recruiting18 YearsN/AAll3Phase 1United States
272NCT02528617
(ClinicalTrials.gov)
July 201528/7/2015The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher DiseaseThe Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher DiseaseGaucher Disease Type 1;Gaucher Disease Type 3Drug: Velaglucerase alfaBaylor Research InstituteTexas Scottish Rite Hospital for ChildrenWithdrawn4 Years14 YearsAll0Phase 4United States
273NCT02520934
(ClinicalTrials.gov)
July 20156/8/2015Miglustat on Gaucher Disease Type IIIBEvaluation of Combination Therapy With Miglustat and Enzyme Replacement Therapy on Gaucher Disease Type IIIBGaucher DiseaseDrug: Miglustat;Drug: ERTNational Taiwan University HospitalActelionActive, not recruiting6 YearsN/AAll19N/ATaiwan
274EUCTR2014-000533-22-FI
(EUCTR)
23/06/201505/06/2015Study of sebelipase alfa in young children with Lysosomal Acid Lipase Deficiency (LALD). A Phase 2, Open Label, Multicenter Study to Evaluate the Safety, Tolerability, Efficacy, and Pharmacokinetics of Sebelipase Alfa in Infants with Rapidly Progressive Lysosomal Acid Lipase Deficiency Lysosomal Acid Lipase Deficiency (LALD)
MedDRA version: 19.1;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Sebelipase Alfa
Product Code: SBC-102
INN or Proposed INN: sebelipase alfa
Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Alexion Pharmaceuticals IncNULLNot RecruitingFemale: yes
Male: yes
10Phase 2United States;Finland;Italy;United Kingdom
275EUCTR2014-003960-20-DE
(EUCTR)
15/06/201526/01/2015An Extension Study to Evaluate the Safety and Efficacy of HGT-1410 Administration in Pediatric Patients with Sanfilippo Syndrome Type AAn Open-Label Extension of Study HGT-SAN-093 Evaluating theSafety and Efficacy Study of HGT-1410 (Recombinant HumanHeparan N Sulfatase) Administration via an Intrathecal DrugDelivery Device in Pediatric Patients with MucopolysaccharidosisType IIIA Disease Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 20.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Recombinant human heparan N-sulfatase (rhHNS)
Product Code: HGT-1410
INN or Proposed INN: Not available
Other descriptive name: Recombinant human heparan N-sulfatase
Shire Human Genetic Therapies, Inc.NULLNot RecruitingFemale: yes
Male: yes
17Phase 2France;United States;Spain;Netherlands;Germany;Italy;United Kingdom
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
276EUCTR2014-004995-49-FR
(EUCTR)
11/06/201525/06/2015Evaluation of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-Naïve Adult Male Patients with Fabry DiseaseAn Open-label, Multicenter, Multinational Extension Study of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Adult Male Patients Diagnosed with Fabry Disease Fabry disease
MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Hormonal diseases [C19]
Genzyme CorporationNULLNot Recruiting Female: no
Male: yes
8Phase 2United States;France;Czech Republic;Poland;Russian Federation;United Kingdom
277EUCTR2011-004287-30-NL
(EUCTR)
29/05/201501/04/2015Study of sebelipase alfa in a broad population of patients with Lysosomal Acid Lipase Deficiency (LALD). A Multicenter, Open-Label Study of Sebelipase Alfa in Patients with Lysosomal Acid Lipase Deficiency Lysosomal Acid Lipase Deficiency (LALD)
MedDRA version: 19.1;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Sebelipase Alfa
Product Code: SBC-102
INN or Proposed INN: sebelipase alfa
Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Alexion Pharmaceuticals IncNULLNot RecruitingFemale: yes
Male: yes
30Phase 2United States;Spain;Turkey;Russian Federation;United Kingdom;Italy;Mexico;Canada;Belgium;Brazil;Croatia;Australia;Denmark;Netherlands;Germany
278EUCTR2014-002701-38-DK
(EUCTR)
15/05/201520/01/2015A Study Using Migalastat Hydrochloride to See the Long Term Safety and Effectiveness of the Drug in Patients with Fabry DiseaseAn Open-Label, Extension Study to Evaluate the Long Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in subjects with Fabry Disease Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the gene (GLA) that encodes the lysosomal enzyme a-galactosidase A.
MedDRA version: 19.1;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03]
Product Name: Migalastat hydrochloride
Product Code: AT1001
INN or Proposed INN: migalastat
Other descriptive name: MIGALASTAT HYDROCHLORIDE
Product Name: Inactive Reminder Capsules
Product Code: Inactive Reminder Capsules
INN or Proposed INN: NA
Other descriptive name: Inactive Reminder Capsules
Amicus Therapeutics, Inc.NULLNot RecruitingFemale: yes
Male: yes
100Phase 3United States;Spain;Turkey;Austria;United Kingdom;Italy;Egypt;France;Canada;Argentina;Belgium;Brazil;Denmark;Australia;Japan
279EUCTR2014-003480-37-IT
(EUCTR)
06/05/201507/01/2015An Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients with CLN2 DiseaseA Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients with CLN2 Disease Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2).
MedDRA version: 17.1;Level: LLT;Classification code 10052074;Term: Neuronal ceroid lipofuscinosis NOS;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Code: BMN 190
INN or Proposed INN: TBD
Other descriptive name: RECOMBINANT HUMAN TRIPEPTIDYL PEPTIDASE-1 (RHTPP1)
BioMarin Pharmaceutical Inc.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
22United States;Germany;United Kingdom;Japan;Italy
280NCT02437253
(ClinicalTrials.gov)
May 20155/5/2015Effects of Adalimumab in Mucopolysaccharidosis Types I, II and VIPilot Study of the Effect of Adalimumab on Physical Function and Musculoskeletal Disease in Mucopolysaccharidosis Types I, II and VIMucopolysaccharidosis Type I;Mucopolysaccharidosis Type II;Mucopolysaccharidosis Type VIDrug: Adalimumab;Other: PlaceboLos Angeles Biomedical Research InstituteNULLCompleted5 YearsN/AAll2Phase 1;Phase 2United States
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
281EUCTR2014-005544-18-ES
(EUCTR)
29/04/201516/02/2015Study of PRX-102 Administered by Intravenous Infusions Every 2 Weeks for 24 Months to Adult Fabry PatientsA Multi Center Extension Study of PRX-102 Administered by Intravenous Infusions Every 2 Weeks for 24 Months to Adult Fabry Patients Fabry disease
MedDRA version: 18.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: PRX102
Product Code: PRX102
INN or Proposed INN: PRX102
Product Name: PRX102
Product Code: PRX102
INN or Proposed INN: PRX102
Product Name: PRX102
Product Code: PRX102
INN or Proposed INN: PRX102
Protalix Ltd.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
18United States;Paraguay;Spain;United Kingdom
282EUCTR2014-004143-13-ES
(EUCTR)
09/04/201509/02/2015An extension peadiatric study of Idursulfase-IT with Elaprase® in patients with Hunter Syndrome and early cognitive impairmentAn Open Label Extension of Study HGT-HIT-094 Evaluating Long Term Safety and Clinical Outcomes of Intrathecal Idursulfase Administered in Conjunction with Elaprase® in Patients with Hunter Syndrome and Cognitive Impairment Hunter syndrome and cognitive impairment
MedDRA version: 18.0;Level: PT;Classification code 10056889;Term: Mucopolysaccharidosis II;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 18.0;Level: LLT;Classification code 10056917;Term: Hunter's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Idursulfase-IT
Product Code: HGT-2310
INN or Proposed INN: IDURSULFASE
Other descriptive name: idursulfase-IT
Shire Human Genetic Therapies, Inc.NULLAuthorised-recruitment may be ongoing or finishedFemale: no
Male: yes
42United States;Mexico;Canada;Argentina;Spain;Colombia;United Kingdom
283NCT02350816
(ClinicalTrials.gov)
April 8, 201521/1/2015An Extension Study to Determine Safety and Efficacy for Pediatric Patients With MPS Type IIIA Disease Who Participated in Study HGT-SAN-093.An Open-Label Extension of Study HGT-SAN-093 Evaluating the Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Mucopolysaccharidosis Type IIIA DiseaseSanfilippo Syndrome;Mucopolysaccharidosis (MPS)Drug: HGT-1410ShireNULLTerminated12 Months48 MonthsAll17Phase 2United States;France;Germany;Italy;Netherlands;Spain;United Kingdom
284NCT04552691
(ClinicalTrials.gov)
April 201511/9/2020Open-Label Expanded Access Treatment With Pegunigalsidase Alfa for Fabry Disease PatientsExpanded Access Treatment With Open-Label Pegunigalsidase Alfa for Fabry PatientsFabry DiseaseDrug: Pegunigalsidase AlfaProtalixChiesi Farmaceutici S.p.A.;CovanceAvailable18 YearsN/AAllNULL
285NCT02969200
(ClinicalTrials.gov)
April 20152/11/2016Fabry: Renal Function During Long-term ERT by 51Cr-EDTA ClearanceFabry Disease: Renal Function During Long-term Enzyme Replacement Therapy Evaluated by Gold Standard GFR 51Cr-EDTA ClearanceFabry DiseaseDrug: Enzyme replacement therapyUlla Feldt-RasmussenNULLCompletedN/AN/AAll52Denmark
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
286NCT02262338
(ClinicalTrials.gov)
April 20152/10/2014Safety and Dose Ranging Study of Insulin Receptor MoAb-IDS Fusion Protein in Patients With Hunter SyndromeA Phase 1 Safety and Dose-Finding Study of a Human Insulin Receptor Monoclonal Antibody-Human Iduronate 2-Sulfatase (IDS) Fusion Protein, AGT-182 in Adult Patients With Mucopolysaccharidosis II (MPS II, Hunter Syndrome)Mucopolysaccharidosis IIDrug: AGT-182ArmaGen, IncNULLCompleted18 YearsN/AMale6Phase 1United States;Germany;Philippines;Netherlands
287NCT02422654
(ClinicalTrials.gov)
April 201514/4/2015Taste Evaluation of Different Liquid Formulations With EliglustatA Single-blind, Randomized, Unbalanced Crossover Design With 5 Vehicles, 5 Periods, and 5 Sequences, Repeated-doses (With no Ingestion) Study to Assess the Palatability of Eliglustat Prototype Liquid Formulations in Healthy SubjectsGaucher DiseaseDrug: eliglustatGenzyme, a Sanofi CompanyNULLCompleted18 Years55 YearsBoth8Phase 1United States
288EUCTR2014-004143-13-GB
(EUCTR)
19/03/201530/01/2015An extension peadiatric study of Idursulfase-IT with Elaprase® in patients with Hunter Syndrome and early cognitive impairmentAn Open Label Extension of Study HGT-HIT-094 Evaluating Long Term Safety and Clinical Outcomes of Intrathecal Idursulfase Administered in Conjunction with Elaprase® in Patients with Hunter Syndrome and Cognitive Impairment Hunter syndrome and cognitive impairment
MedDRA version: 20.1;Level: PT;Classification code 10056889;Term: Mucopolysaccharidosis II;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.0;Level: LLT;Classification code 10056917;Term: Hunter's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Idursulfase-IT
Product Code: HGT-2310
INN or Proposed INN: IDURSULFASE
Other descriptive name: idursulfase-IT
Shire Human Genetic Therapies, Inc.NULLAuthorised-recruitment may be ongoing or finishedFemale: no
Male: yes
54Phase 2;Phase 3United States;France;Mexico;Canada;Argentina;Spain;Australia;Colombia;United Kingdom
289EUCTR2014-002701-38-ES
(EUCTR)
12/03/201516/01/2015A Study Using Migalastat Hydrochloride to See the Long Term Safety and Effectiveness of the Drug in Patients with Fabry DiseaseAn Open-Label, Extension Study to Evaluate the Long Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in subjects with Fabry Disease Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the gene (GLA) that encodes the lysosomal enzyme a-galactosidase A.
MedDRA version: 17.1;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03]
Product Name: Migalastat hydrochloride
Product Code: AT1001
INN or Proposed INN: migalastat
Other descriptive name: MIGALASTAT HYDROCHLORIDE
Amicus Therapeutics, Inc.NULLNot RecruitingFemale: yes
Male: yes
100Phase 3United States;Spain;Turkey;Austria;Italy;United Kingdom;Egypt;France;Canada;Argentina;Belgium;Brazil;Australia;Denmark;Japan
290EUCTR2014-003480-37-GB
(EUCTR)
10/03/201520/10/2014An Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients with CLN2 DiseaseA Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients with CLN2 Disease Late-Infantile Neuronal Ceroid Lipofuscinosis type 2 (CLN2).
MedDRA version: 20.1;Level: LLT;Classification code 10052074;Term: Neuronal ceroid lipofuscinosis NOS;System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
BioMarin Pharmaceutical Inc.NULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
23Phase 2United States;Germany;Italy;United Kingdom
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
291EUCTR2014-003198-40-IT
(EUCTR)
27/02/201512/12/2014Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of rhASM in Pediatric Patients <18 Years of Age with Acid Sphingomyelinase DeficiencyA Phase 1/2, Multi-Center, Open-Label, Ascending Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Exploratory Efficacy of Recombinant Human Acid Sphingomyelinase in Pediatric Patients Aged <18 Years With Acid Sphingomyelinase Deficiency Patients with acid sphingomyelinase deficiency (Niemann-Pick disease)
MedDRA version: 17.1;Level: LLT;Classification code 10041515;Term: Sphingomyelin lipidosis;System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genzyme CorporationNULLNot Recruiting Female: yes
Male: yes
12Phase 2France;United States;Brazil;Chile;Germany;United Kingdom;Italy
292EUCTR2014-003198-40-GB
(EUCTR)
19/02/201526/11/2014Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of Olipudase Alfa in Pediatric Patients <18 Years of Age with Acid Sphingomyelinase DeficiencyA phase 1/2, multi-center, open-label, ascending dose study to evaluate the safety, tolerability, pharmacokinetics, pharmacodynamics and exploratory efficacy of olipudase alfa in pediatric patients Aged <18 Years With acid sphingomyelinase deficiency - ASCEND-Peds Patients with acid sphingomyelinase deficiency (Niemann-Pick disease)
MedDRA version: 20.1;Level: LLT;Classification code 10041515;Term: Sphingomyelin lipidosis;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Olipudase alfa (rhASM)
Product Code: GZ402665
INN or Proposed INN: Olipudase alfa
Other descriptive name: RECOMBINANT HUMAN ACID SPHINGOMYELINASE (rhASM)
Genzyme CorporationNULLNot RecruitingFemale: yes
Male: yes
20Phase 2United States;France;Brazil;Germany;Italy;United Kingdom
293EUCTR2014-003960-20-ES
(EUCTR)
18/02/201526/01/2015An Extension Study to Evaluate the Safety and Efficacy of HGT-1410 Administration in Pediatric Patients with Sanfilippo Syndrome Type AA Open-Label Extension of Study HGT-SAN-093 Evaluating theSafety and Efficacy Study of HGT-1410 (Recombinant HumanHeparan N Sulfatase) Administration via an Intrathecal DrugDelivery Device in Pediatric Patients with MucopolysaccharidosisType IIIA Disease Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 17.1;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 17.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Recombinant human heparan N-sulfatase (rhHNS)
Product Code: HGT-1410
INN or Proposed INN: Not available
Other descriptive name: Recombinant human heparan N-sulfatase
Shire human Genetic Therapies, Inc.NULLNot RecruitingFemale: yes
Male: yes
18Phase 2France;United States;Argentina;Spain;Netherlands;Germany;Italy;United Kingdom
294EUCTR2011-002750-31-CZ
(EUCTR)
16/02/201522/03/2013A study of SBC-102 (enzyme replacement therapy) in patients with lysosomal acid lipase deficiencyA multicenter, randomized, placebo-controlled study of SBC-102 in patients with lysosomal acid lipase deficiency - ARISE (Acid Lipase Replacement Investigating Safety and Efficacy) Lysosomal Acid Lipase Deficiency
MedDRA version: 20.0;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Alexion Pharmaceuticals, Inc.NULLNot Recruiting Female: 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
295EUCTR2014-002701-38-BE
(EUCTR)
09/02/201504/12/2014A Study Using Migalastat Hydrochloride to See the Long Term Safety and Effectiveness of the Drug in Patients with Fabry DiseaseAn Open-Label, Extension Study to Evaluate the Long Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in subjects with Fabry Disease Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the gene (GLA) that encodes the lysosomal enzyme a-galactosidase A.
MedDRA version: 18.1;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03]
Product Name: Migalastat hydrochloride
Product Code: AT1001
INN or Proposed INN: migalastat
Other descriptive name: MIGALASTAT HYDROCHLORIDE
Product Name: Inactive Reminder Capsules
Product Code: Inactive Reminder Capsules
INN or Proposed INN: NA
Other descriptive name: Inactive Reminder Capsules
Amicus Therapeutics, Inc.NULLNot RecruitingFemale: yes
Male: yes
100Phase 3United States;Spain;Turkey;Austria;United Kingdom;Italy;Egypt;France;Canada;Argentina;Belgium;Brazil;Australia;Denmark;Japan
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
296NCT02930655
(ClinicalTrials.gov)
February 1, 201510/10/2016A Study to Assess the Safety and Tolerability of Lucerastat in Subjects With Fabry DiseaseA Single-center, Open-label, Randomized, Versus a Control Group, Phase 1b Study to Evaluate the Safety, Tolerability, Pharmacodynamics, and Pharmacokinetics of Oral Lucerastat in Adult Subjects With Fabry Disease Receiving Enzyme Replacement TherapyFabry DiseaseDrug: Lucerastat;Drug: Enzyme replacement therapy (ERT)Idorsia Pharmaceuticals Ltd.NULLCompleted18 YearsN/AAll14Phase 1Germany
297NCT02478840
(ClinicalTrials.gov)
February 20159/2/2015Evaluation of Long-term Efficacy of Treatment With LamazymA Single Center, Open Label Clinical Trial Investigating the Long-term Efficacy of rhLAMAN (Recombinant Human Alpha-mannosidase or Lamazym) Treatment in Subjects With Alpha-Mannosidosis Who Previously Participated in Lamazym TrialsAlpha-MannosidosisDrug: LamazymZymenex A/SNULLCompletedN/AN/AAll18Phase 3Denmark
298NCT02485899
(ClinicalTrials.gov)
February 201524/4/2015A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients With CLN2 DiseaseA Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients With CLN2 DiseaseJansky-Bielschowsky Disease;Batten Disease;Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2;CLN2 Disease;CLN2 DisorderBiological: BMN 190;Device: Intraventricular Access DeviceBioMarin PharmaceuticalNULLActive, not recruiting3 Years16 YearsAll23Phase 1;Phase 2United States;Germany;Italy;United Kingdom
299EUCTR2013-000336-97-DK
(EUCTR)
30/01/201503/12/2014A trial of the long-term safety of Lamazym aftercare treatment of subjects with alpha-Mannosidosis who previously participated in Lamazym-trialsA multi-center, un-controlled, open-labeled trial of the long-term safety of Lamazym aftercare treatment of subjects with alpha-Mannosidosis Alpha-Mannosidosis
MedDRA version: 20.0;Level: LLT;Classification code 10032658;Term: Other specified disorders of carbohydrate transport and metabolism;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Lamazym
Product Code: rhLAMAN
INN or Proposed INN: Velmanase alfa
Other descriptive name: LAMAZYM
Chiesi Farmaceutici S.p.A.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
13Phase 3France;Denmark
300EUCTR2014-002596-28-GB
(EUCTR)
28/01/201512/06/2015Treatment for Nonsense Mutation Mucopolysaccharidosis Type IA Phase 2 Study of Ataluren (PTC124) as Treatment for Nonsense Mutation Mucopolysaccharidosis Type I Nonsense mutation Mucopolysaccharidosis Type I
MedDRA version: 20.1;Level: PT;Classification code 10056886;Term: Mucopolysaccharidosis I;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: ataluren
Product Code: PTC124
INN or Proposed INN: ATALUREN
Product Name: ataluren
Product Code: PTC124
INN or Proposed INN: ATALUREN
Product Name: ataluren
Product Code: PTC124
INN or Proposed INN: ATALUREN
PTC Therapeutics Inc.NULLNot RecruitingFemale: yes
Male: yes
18Phase 2Germany;United Kingdom
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
301EUCTR2014-002701-38-GB
(EUCTR)
28/01/201509/12/2014A Study Using Migalastat Hydrochloride to See the Long Term Safety and Effectiveness of the Drug in Patients with Fabry DiseaseAn Open-Label, Extension Study to Evaluate the Long Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in subjects with Fabry Disease Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the gene (GLA) that encodes the lysosomal enzyme a-galactosidase A.
MedDRA version: 18.1;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03]
Product Name: Migalastat hydrochloride
Product Code: AT1001
INN or Proposed INN: migalastat
Other descriptive name: MIGALASTAT HYDROCHLORIDE
Product Name: Inactive Reminder Capsules
Product Code: Inactive Reminder Capsules
INN or Proposed INN: NA
Other descriptive name: Inactive Reminder Capsules
Amicus Therapeutics, Inc.NULLNot RecruitingFemale: yes
Male: yes
100Phase 3United States;Spain;Turkey;Austria;United Kingdom;Italy;Egypt;France;Canada;Argentina;Belgium;Brazil;Australia;Denmark;Japan
302EUCTR2014-003480-37-DE
(EUCTR)
23/01/201503/11/2014An Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients with CLN2 DiseaseA Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients with CLN2 Disease Late-Infantile Neuronal Ceroid Lipofuscinosis type 2(CLN2).
MedDRA version: 20.1;Level: LLT;Classification code 10052074;Term: Neuronal ceroid lipofuscinosis NOS;System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
BioMarin Pharmaceutical Inc.NULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
23Phase 2United States;Germany;Italy;United Kingdom
303EUCTR2014-003950-15-DK
(EUCTR)
22/01/201525/11/2014Medical research trial for testing drug treatment of alpha-MannosidosisA single center, open label clinical trial investigating the long-term efficacy of rhLAMAN (recombinant human alpha-mannosidase or Lamazym) treatment in subjects with alpha-Mannosidosis who previously participated in Lamazym trials alpha-Mannosidosis
MedDRA version: 17.1;Level: LLT;Classification code 10032658;Term: Other specified disorders of carbohydrate transport and metabolism;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Lamazym
Product Code: rhLAMAN
INN or Proposed INN: recombinant human lysosomal alpha-mannosidase
Other descriptive name: LAMAZYM
Zymenex A/SNULLNot RecruitingFemale: yes
Male: yes
Denmark
304NCT02324049
(ClinicalTrials.gov)
January 22, 201515/12/2014Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 in Mucopolysaccharidosis III, Type B (MPS IIIB)A Phase I/II Open Label Study in MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered IntravenouslyMucopolysaccharidosis IIIBDrug: SBC-103Alexion PharmaceuticalsNULLCompleted2 Years12 YearsAll11Phase 1;Phase 2United States;Spain;United Kingdom
305EUCTR2011-004287-30-GB
(EUCTR)
19/01/201511/04/2014 Study of sebelipase alfa in a broad population of patients with Lysosomal Acid Lipase Deficiency (LALD). A Multicenter, Open-Label Study of Sebelipase Alfa in Patients with Lysosomal Acid Lipase Deficiency Lysosomal Acid Lipase Deficiency (LALD)
MedDRA version: 18.1;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Alexion Pharmaceuticals IncNULLNot Recruiting Female: yes
Male: yes
20Phase 2United States;Spain;Turkey;Russian Federation;United Kingdom;Italy;Mexico;Canada;Belgium;Poland;Brazil;Croatia;Australia;Denmark;Netherlands;Germany;Japan
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
306JPRN-UMIN000020032
2014/12/1902/12/2015Intrathecal 2-hydroxypropyl-beta-cyclodextrin (HPBCD) therapy in adult-onset Niemann-Pick disease type C (NPC) Niemann-Pick disease type C2-hydroxypropyl-beta-cyclodextrin (HPBCD) 100-400mg, every 4 week, two yearsJichi Medical University, Saitama Medical CenterSaga UniversityKumamoto UniversityTohoku UniversityInstitute for Neurological DisordersComplete: follow-up continuing20years-oldNot applicableMale and Female2Not applicableJapan
307EUCTR2014-002701-38-AT
(EUCTR)
17/12/201412/11/2014A Study Using Migalastat Hydrochloride to See the Long Term Safety and Effectiveness of the Drug in Patients with Fabry DiseaseAn Open-Label, Extension Study to Evaluate the Long Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in subjects with Fabry Disease Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the gene (GLA) that encodes the lysosomal enzyme a-galactosidase A.
MedDRA version: 19.1;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03]
Product Name: Migalastat hydrochloride
Product Code: AT1001
INN or Proposed INN: migalastat
Other descriptive name: MIGALASTAT HYDROCHLORIDE
Product Name: Inactive Reminder Capsules
Product Code: Inactive Reminder Capsules
INN or Proposed INN: NA
Other descriptive name: Inactive Reminder Capsules
Amicus Therapeutics, Inc.NULLNot RecruitingFemale: yes
Male: yes
100Phase 3United States;Spain;Turkey;Austria;United Kingdom;Italy;Egypt;France;Canada;Argentina;Belgium;Brazil;Australia;Denmark;Japan
308NCT02230566
(ClinicalTrials.gov)
December 201422/8/2014A Phase 3 Study of UX003 Recombinant Human Betaglucuronidase (rhGUS) Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7)A Randomized, Placebo-Controlled, Blind-Start, Single-Crossover Phase 3 Study to Assess the Efficacy and Safety of UX003 rhGUS Enzyme Replacement Therapy in Patients With MPS 7MPS 7;Sly Syndrome;Mucopolysaccharidosis;MPS VIIDrug: UX003;Other: PlaceboUltragenyx Pharmaceutical IncNULLCompleted5 Years35 YearsAll12Phase 3United States
309NCT02533076
(ClinicalTrials.gov)
November 201414/7/2015The 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 LeuvenNULLCompleted8 YearsN/ABoth50Phase 0Belgium
310NCT02228460
(ClinicalTrials.gov)
November 201427/8/2014Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-naïve Adult Male Patients With Fabry DiseaseA Phase 2 Study to Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ/SAR402671 in Enzyme Replacement Therapy (ERT) Treatment-naïve Adult Male Patients Diagnosed With Fabry DiseaseFabry DiseaseDrug: GZ/SAR402671Genzyme, a Sanofi CompanyNULLCompleted18 Years49 YearsMale11Phase 2United States;France;Poland;Russian Federation;United Kingdom;Czech Republic;Czechia
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
311EUCTR2013-005324-41-GB
(EUCTR)
07/10/201430/06/2014Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ402671 in Treatment-naïve Adult Male Patients with Fabry DiseaseA Phase 2 Study to Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ/SAR402671 in Enzyme Replacement Therapy (ERT) Treatment-naïve Adult Male Patients Diagnosed with Fabry Disease Fabry disease
MedDRA version: 17.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Code: GZ402671 / SAR402671
Other descriptive name: Genz-682452-AA
Product Code: GZ402671 / SAR402671
Other descriptive name: Genz-682452-AA
Genzyme CorporationNULLNot RecruitingFemale: no
Male: yes
8Phase 2France;United States;Czech Republic;Poland;Russian Federation;United Kingdom
312NCT02194985
(ClinicalTrials.gov)
October 201417/7/2014Open-Label Extension Study of the Long-Term Effects of Migalastat HCL in Patients With Fabry DiseaseAn Open-Label Extension Study to Evaluate the Long Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in Subjects With Fabry DiseaseFabry DiseaseDrug: migalastat HCl 150 mgAmicus TherapeuticsNULLCompleted18 YearsN/AAll76Phase 3United States;Argentina;Australia;Austria;Belgium;Brazil;Canada;Denmark;Egypt;France;Italy;Japan;Spain;Turkey;United Kingdom
313EUCTR2013-005324-41-CZ
(EUCTR)
19/09/201403/07/2014Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ402671 in Treatment-naïve Adult Male Patients with Fabry DiseaseA Phase 2 Study to Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ/SAR402671 in Enzyme Replacement Therapy (ERT) Treatment-naïve Adult Male Patients Diagnosed with Fabry Disease Fabry disease
MedDRA version: 17.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Code: GZ402671 / SAR402671
Other descriptive name: Genz-682452-AA
Product Code: GZ402671 / SAR402671
Other descriptive name: Genz-682452-AA
Genzyme CorporationNULLNot RecruitingFemale: no
Male: yes
8Phase 2France;United States;Czech Republic;Poland;Russian Federation;United Kingdom
314EUCTR2011-004287-30-IT
(EUCTR)
18/09/201418/04/2014Study of sebelipase alfa in a broad population of patients with Lysosomal Acid Lipase Deficiency (LALD). A Multicenter, Open-Label Study of Sebelipase Alfa in Patients with Lysosomal Acid Lipase Deficiency Lysosomal Acid Lipase Deficiency (LALD)
MedDRA version: 16.1;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Sebelipase Alfa
Product Code: SBC-102
INN or Proposed INN: sebelipase alfa
Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Synageva BioPharma Corp.NULLNot RecruitingFemale: yes
Male: yes
20Phase 2United States;Spain;Turkey;Russian Federation;United Kingdom;Italy;Mexico;Canada;Belgium;Brazil;Poland;Croatia;Australia;Denmark;Netherlands;Germany;Japan
315EUCTR2014-000533-22-IT
(EUCTR)
18/09/201422/07/2014Study of sebelipase alfa in young children with Lysosomal Acid Lipase Deficiency (LALD). A Phase 2, Open Label, Multicenter Study to Evaluate the Safety, Tolerability, Efficacy, and Pharmacokinetics of Sebelipase Alfa in Infants with Rapidly Progressive Lysosomal Acid Lipase Deficiency Lysosomal Acid Lipase Deficiency (LALD)
MedDRA version: 17.0;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Sebelipase Alfa
Product Code: SBC-102
INN or Proposed INN: sebelipase alfa
Other descriptive name: lysosomal acid lipase, Esterase cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Synageva BioPharma Corp.NULLNot RecruitingFemale: yes
Male: yes
10Phase 2United States;Finland;United Kingdom;Italy
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
316EUCTR2013-003450-24-IT
(EUCTR)
11/09/201409/05/2014Safety and Efficacy Study of HGT-1410 Administration in Pediatric Patients with Early Stage of Sanfilippo Syndrome Type AA Randomized, Controlled, Open-label, Multicenter, Phase IIb Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration via an Intrathecal Drug Delivery Device in Pediatric Patients with Early Stage Mucopolysaccharidosis Type III A Disease Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 17.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 17.0;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Recombinant human heparan N-sulfatase (rhHNS)
Product Code: HGT-1410
INN or Proposed INN: Not available
Other descriptive name: Recombinant human heparan N-sulfatase
Shire Human Genetic Therapies, IncNULLNot RecruitingFemale: yes
Male: yes
18Phase 2France;Spain;Netherlands;Germany;United Kingdom;Italy
317NCT02294877
(ClinicalTrials.gov)
September 201428/10/2014A Multicenter, Multinational, Observational Morquio A Registry Study (MARS)A Multicenter, Multinational, Observational Morquio A Registry Study (MARS)Mucopolysaccharidosis IV Type A;Morquio A Syndrome;MPS IVADrug: Vimizim® (elosulfase alfa)BioMarin PharmaceuticalICON plcRecruitingN/AN/AAll583United States;Australia;Austria;Belgium;Canada;Czechia;Denmark;France;Germany;Ireland;Italy;Malaysia;Netherlands;Poland;Portugal;Puerto Rico;Taiwan;United Kingdom
318NCT02254863
(ClinicalTrials.gov)
September 201423/9/2014UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like CellsAugmentation of Umbilical Cord Blood Transplantation for Inherited Metabolic Diseases With Intrathecal Administration of Human Umbilical Cord Blood-Derived Oligodendrocyte-Like CellsAdrenoleukodystrophy;Batten Disease;Mucopolysaccharidosis II;Leukodystrophy, Globoid Cell;Leukodystrophy, Metachromatic;Neimann Pick Disease;Pelizaeus-Merzbacher Disease;Sandhoff Disease;Tay-Sachs Disease;Brain Diseases, Metabolic, Inborn;Alpha-Mannosidosis;Sanfilippo MucopolysaccharidosesBiological: DUOC-01Joanne Kurtzberg, MDThe Marcus FoundationRecruitingN/A22 YearsAll12Phase 1United States
319EUCTR2013-001152-35-ES
(EUCTR)
21/08/201404/07/2014A safety and efficacy study in MPS 7 patients receiving enzyme (UX003) replacement by intravenous injectionAn Open-Label Phase 1/2 Study to Assess the Safety, Efficacy and Dose of UX003 rhGUS Enzyme Replacement Therapy in Patients with MPS 7 Mucopolysaccharidosis type 7 (MPS 7, Sly syndrome);Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]Product Name: Recombinant human beta-glucuronidase
Product Code: UX003
INN or Proposed INN: Not available
Other descriptive name: RECOMBINANT HUMAN BETA GLUCURONIDASE; RHGUS
Ultragenyx Pharmaceutical Inc.NULLNot RecruitingFemale: yes
Male: yes
5Phase 1;Phase 2Spain;United Kingdom
320EUCTR2011-004287-30-DE
(EUCTR)
12/08/201413/05/2014Study of sebelipase alfa in a broad population of patients with Lysosomal Acid Lipase Deficiency (LALD). A Multicenter, Open-Label Study of Sebelipase Alfa in Patients with Lysosomal Acid Lipase Deficiency Lysosomal Acid Lipase Deficiency (LALD)
MedDRA version: 19.1;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Sebelipase Alfa
Product Code: SBC-102
INN or Proposed INN: sebelipase alfa
Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Alexion Pharmaceuitcals IncNULLNot RecruitingFemale: yes
Male: yes
30Phase 2United States;Spain;Turkey;Russian Federation;United Kingdom;Italy;Mexico;Canada;Belgium;Brazil;Croatia;Australia;Denmark;Germany;Netherlands;Japan
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
321JPRN-UMIN000023094
2014/08/0110/07/2016A study on the safety and efficacy of cyclodextrin intrathecal administration in Niemann-Pick disease type C Niemann-Pick disease type C2-hydroxypropyl-beta-cyclodextrin (HPBCD) 5-20mg/kg, every 4 weeks, for two yearsNara Medical UniversitySaga UniversityKumamoto UniversityComplete: follow-up continuing1years-old25years-oldMale and Female1Not selectedJapan
322NCT02023086
(ClinicalTrials.gov)
August 201410/12/2013Clinical 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 CompanyCompleted18 YearsN/AAll8N/ACanada
323EUCTR2011-004287-30-BE
(EUCTR)
22/07/201426/05/2014Study of sebelipase alfa in a broad population of patients with Lysosomal Acid Lipase Deficiency (LALD). A Multicenter, Open-Label Study of Sebelipase Alfa in Patients with Lysosomal Acid Lipase Deficiency Lysosomal Acid Lipase Deficiency (LALD)
MedDRA version: 17.1;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Sebelipase Alfa
Product Code: SBC-102
INN or Proposed INN: sebelipase alfa
Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Synageva BioPharma Corp.NULLNot RecruitingFemale: yes
Male: yes
20Phase 2United States;Spain;Turkey;Russian Federation;United Kingdom;Italy;Mexico;Canada;Belgium;Brazil;Croatia;Australia;Denmark;Netherlands;Germany;Japan
324EUCTR2013-003228-35-ES
(EUCTR)
16/07/201412/11/2013Study of the preliminary efficacy and safety of topical cysteamine formulated in viscous solution in cystinosis patientsStudy of the preliminary efficacy and safety of topical cysteamine formulated in viscous solution in cystinosis patients - Viscou solution cysteamina Cystinosis
MedDRA version: 16.1;Level: PT;Classification code 10011777;Term: Cystinosis;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: cysteamine (mercaptamine) viscous solution
INN or Proposed INN: Mercaptamine
Other descriptive name: MERCAPTAMINE HYDROCHLORIDE
Fundació Hospital Universitari Vall d'Hebron - Institut de Recerca (VHIR)NULLNot RecruitingFemale: yes
Male: yes
Spain
325EUCTR2013-003400-39-GB
(EUCTR)
15/07/201407/05/2014A Phase 1/2 open label study in MPS IIIB subjects to investigate the long-term safety and effect of SBC-103 given by IV infusion.A Phase I/II Open Label Study in MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously Mucopolysaccharidosis III, type B (MPS IIIB), Sanfilippo B
MedDRA version: 19.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 19.0;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Alexion Pharmaceuticals, Inc.NULLNot Recruiting Female: yes
Male: yes
9Phase 1;Phase 2United States;Spain;United Kingdom
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
326NCT02171104
(ClinicalTrials.gov)
July 10, 201420/6/2014MT2013-31: Allo HCT for Metabolic Disorders and Severe OsteopetrosisMT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATGMucopolysaccharidosis Disorders;Hurler Syndrome;Hunter Syndrome;Maroteaux Lamy Syndrome;Sly Syndrome;Alpha-Mannosidosis;Fucosidosis;Aspartylglucosaminuria;Glycoprotein Metabolic Disorders;Sphingolipidoses;Recessive Leukodystrophies;Globoid Cell Leukodystrophy;Metachromatic Leukodystrophy;Niemann-Pick B;Niemann-Pick C Subtype 2;Sphingomyelin Deficiency;Peroxisomal Disorders;Adrenoleukodystrophy With Cerebral Involvement;Zellweger Syndrome;Neonatal Adrenoleukodystrophy;Infantile Refsum Disease;Acyl-CoA Oxidase Deficiency;D-Bifunctional Enzyme Deficiency;Multifunctional Enzyme Deficiency;Alpha-methylacyl-CoA Racmase Deficiency;Mitochondrial Neurogastrointestingal Encephalopathy;Severe Osteopetrosis;Hereditary Leukoencephalopathy With Axonal Spheroids (HDLS; CSF1R Mutation);Inherited Metabolic DisordersBiological: Stem Cell Transplantation;Drug: IMD Preparative Regimen;Drug: Osteopetrosis Only Preparative Regimen;Drug: Osteopetrosis Haploidentical Only Preparative Regimen;Drug: cALD SR-A (Standard-Risk, Regimen A);Drug: cALD SR-B (Standard-Risk, Regimen B);Drug: cALD HR-D (High-Risk, Regimen C);Drug: cALD HR-D (High-Risk, Regimen D)Masonic Cancer Center, University of MinnesotaNULLRecruitingN/A55 YearsAll100Phase 2United States
327EUCTR2011-004800-40-AT
(EUCTR)
08/07/201415/05/2014A Study using Migalastat to see the safety and usefulness of the drug in patients with Fabry Disease.An Open-Label Extension Study to Evaluate the Long Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in Subjects with Fabry Disease. Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the gene (GLA) that encodes the lysosomal enzyme a-galactosidase A.
MedDRA version: 17.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03]
Product Name: Migalastat Hydrochloride
Product Code: AT1001
INN or Proposed INN: Migalastat Hydrochloride
Other descriptive name: GR181413A
Amicus Therapeutics, Inc.NULLNot RecruitingFemale: yes
Male: yes
100Phase 3United States;Spain;Turkey;Austria;Italy;United Kingdom;Egypt;France;Canada;Argentina;Belgium;Brazil;Australia;Denmark
328EUCTR2011-004287-30-HR
(EUCTR)
07/07/201403/09/2014 Study of sebelipase alfa in a broad population of patients with Lysosomal Acid Lipase Deficiency (LALD).A Multicenter, Open-Label Study of Sebelipase Alfa in Patients with Lysosomal Acid Lipase Deficiency Lysosomal Acid Lipase Deficiency (LALD)
MedDRA version: 19.0;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Alexion Pharmaceuitcals IncNULLNot Recruiting Female: yes
Male: yes
20Phase 2United States;Spain;Turkey;Russian Federation;United Kingdom;Italy;Mexico;Canada;Belgium;Brazil;Croatia;Australia;Denmark;Netherlands;Germany;Japan
329NCT02112994
(ClinicalTrials.gov)
June 24, 201420/3/2014Safety and Efficacy Study of Sebelipase Alfa in Participants With Lysosomal Acid Lipase DeficiencyA Multi-Center, Open-Label Study of Sebelipase Alfa in Patients With Lysosomal Acid Lipase DeficiencyLysosomal Acid Lipase DeficiencyDrug: Sebelipase AlfaAlexion PharmaceuticalsNULLCompleted8 MonthsN/AAll31Phase 2United States;Australia;Belgium;Brazil;Canada;Croatia;Denmark;Germany;Italy;Mexico;Netherlands;Russian Federation;Spain;Turkey;United Kingdom
330EUCTR2011-004287-30-DK
(EUCTR)
19/06/201403/04/2014Study of sebelipase alfa in a broad population of patients with Lysosomal Acid Lipase Deficiency (LALD). A Multicenter, Open-Label Study of Sebelipase Alfa in Patients with Lysosomal Acid Lipase Deficiency Lysosomal Acid Lipase Deficiency (LALD)
MedDRA version: 19.1;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Sebelipase Alfa
Product Code: SBC-102
INN or Proposed INN: sebelipase alfa
Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Alexion Pharmaceuticals incNULLNot RecruitingFemale: yes
Male: yes
20Phase 2United States;Spain;Turkey;Russian Federation;United Kingdom;Italy;Mexico;Canada;Belgium;Poland;Brazil;Croatia;Denmark;Australia;Netherlands;Germany;Japan
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
331EUCTR2013-001479-18-GB
(EUCTR)
09/06/201401/05/2014High Dose Genistein in Sanfilippo SyndromeA Phase III, Double Blinded, Randomised, Placebo Controlled Clinical Trial of High Dose Oral Genistein Aglycone in Patients with Sanfilippo Syndrome (Mucopolysaccharidosis III) - High Dose Genistein in Sanfilippo Syndrome Sanfilippo syndrome (Mucopolysaccharidosis III)
MedDRA version: 20.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Manchester University NHS Foundation TrustNULLNot Recruiting Female: yes
Male: yes
24Phase 3United Kingdom
332NCT02193867
(ClinicalTrials.gov)
June 6, 20147/7/2014Clinical Study In Infants With Rapidly Progressive Lysosomal Acid Lipase DeficiencyA Phase 2, Open Label, Multicenter Study to Evaluate the Safety, Tolerability, Efficacy, and Pharmacokinetics of Sebelipase Alfa in Infants With Rapidly Progressive Lysosomal Acid Lipase DeficiencyLysosomal Acid Lipase DeficiencyDrug: Sebelipase AlfaAlexion PharmaceuticalsNULLTerminatedN/A8 MonthsAll10Phase 2United States;Finland;Italy;United Kingdom
333EUCTR2012-003775-20-CZ
(EUCTR)
06/06/201414/02/2014A safety and efficacy extension of study HGT-MLD-070 in Children with Metachromatic Leukodystrophy recieving enzyme (HGT-1110) replacement by intrathecal injectionAn Open-label Extension of Study HGT-MLD-070 Evaluating Long Term Safety and Efficacy of Intrathecal Administration of HGT-1110 in Patients with Metachromatic Leukodystrophy Treatment of Metachromatic Leukodystrophy
MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: SHP611
INN or Proposed INN: Not available
Other descriptive name: Recombinant Human Arylsulfatase A (rhASA)
Shire Human Genetics Therapies IncNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
24Phase 1;Phase 2France;Czech Republic;Brazil;Denmark;Australia;Germany;United Kingdom;Japan;Italy
334EUCTR2014-000350-11-DE
(EUCTR)
28/05/201410/03/2014Treatment of patients, who have Mucopolysaccharidosis Type I, receiving pentosan polysulfate subcutaneous injections weeklyAn open label, randomized study to investigate the safety of weekly pentosan polysulfate injections in adult patients with Mucopolysaccharidosis Type I receiving enzyme replacement therapy. Mucopolysaccharidosis type I (alpha-L-Iduronidase deficiency)
MedDRA version: 17.0;Level: LLT;Classification code 10056888;Term: Mucopolysaccharidosis IS;System Organ Class: 100000004850
MedDRA version: 17.0;Classification code 10056887;Term: Mucopolysaccharidosis IH/S;Classification code 10028094;Term: Mucopolysaccharidosis IH;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Trade Name: Pentosan Polysulfat SP 54® injection solution
Product Name: Pentosan Polysulphate SP54®
INN or Proposed INN: PENTOSAN POLYSULFATE SODIUM
Other descriptive name: Pentosan Polysulphate SP54
Multiplex Pharma Holdings LLCNULLNot RecruitingFemale: yes
Male: yes
6Germany
335EUCTR2014-000533-22-GB
(EUCTR)
28/05/201424/04/2014 Study of sebelipase alfa in young children with Lysosomal Acid Lipase Deficiency (LALD). A Phase 2, Open Label, Multicenter Study to Evaluate the Safety, Tolerability, Efficacy, and Pharmacokinetics of Sebelipase Alfa in Infants with Rapidly Progressive Lysosomal Acid Lipase Deficiency Lysosomal Acid Lipase Deficiency (LALD)
MedDRA version: 18.1;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Alexion Pharmaceuticals IncNULLNot Recruiting Female: yes
Male: yes
10Phase 2United States;Finland;Italy;United Kingdom
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
336EUCTR2011-004287-30-ES
(EUCTR)
28/05/201404/04/2014Study of sebelipase alfa in a broad population of patients with Lysosomal Acid Lipase Deficiency (LALD).A Multicenter, Open-Label Study of Sebelipase Alfa in Patients with Lysosomal Acid Lipase Deficiency Lysosomal Acid Lipase Deficiency (LALD)
MedDRA version: 16.1;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Sebelipasa Alfa
Product Code: SBC-102
INN or Proposed INN: sebelipasa alfa
Other descriptive name: lipasa ácida lisosómica, esterasa, colesterol (gen humano LIPA), lipasa ácida lisosómica (gen humano LIPA); USAN: sebelipasa alfa
Synageva BioPharma Corp.NULLNot RecruitingFemale: yes
Male: yes
20Phase 2Netherlands;Germany;Japan;United States;Spain;Turkey;Russian Federation;United Kingdom;Italy;Mexico;Canada;Belgium;Brazil;Poland;Croatia;Australia;Denmark
337EUCTR2012-005430-11-IT
(EUCTR)
14/05/201420/01/2014Phase 1/2 study to evaluate safety and efficacy of BMN 190 in patients with CLN2A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 190 in Patients with Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) Disease Neuronal Ceroid Lipofuscinosis Type 2 (CLN2).
MedDRA version: 16.1;Level: LLT;Classification code 10052074;Term: Neuronal ceroid lipofuscinosis NOS;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Name: N/A
Product Code: BMN 190
INN or Proposed INN: TBD
Other descriptive name: recombinant human tripeptidyl peptidase-1
BioMarin Pharmaceutical Inc.NULLNot RecruitingFemale: yes
Male: yes
22Phase 1;Phase 2Germany;United Kingdom;Italy
338NCT02232477
(ClinicalTrials.gov)
May 20143/9/2014Extension Study of Intrathecal Enzyme Replacement for Cognitive Decline in MPS IAn Extension Study of Intrathecal Enzyme Replacement for Cognitive Decline in Mucopolysaccharidosis IMucopolysaccharidosis I;Cognitive DeclineDrug: Intrathecal recombinant human alpha iduronidaseagnes chenUniversity of Minnesota;UCSF Benioff Children's Hospital Oakland;University of California, Los Angeles;The Ryan Foundation;Rare Diseases Clinical Research Network;National Institute of Neurological Disorders and Stroke (NINDS)Terminated6 YearsN/AAll6N/AUnited States
339NCT02124083
(ClinicalTrials.gov)
April 25, 201425/4/2014Phase 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 UniversityCompleted18 Years60 YearsAll12Phase 1;Phase 2United States
340EUCTR2013-003450-24-DE
(EUCTR)
09/04/201407/11/2013Safety and Efficacy Study of HGT-1410 Administration in Pediatric Patients with Early Stage of Sanfilippo Syndrome Type AA Randomized, Controlled, Open-label, Multicenter, Phase IIb Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration via an Intrathecal Drug Delivery Device in Pediatric Patients with Early Stage Mucopolysaccharidosis Type III A Disease Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 17.1;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 17.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Recombinant human heparan N-sulfatase (rhHNS)
Product Code: HGT-1410
INN or Proposed INN: Not available
Other descriptive name: Recombinant human heparan N-sulfatase
Shire Human Genetic Therapies, IncNULLNot RecruitingFemale: yes
Male: yes
18Phase 2France;United States;Argentina;Brazil;Spain;Netherlands;Germany;Italy;United Kingdom
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
341NCT02107846
(ClinicalTrials.gov)
April 20144/4/2014An Open-Label, Dose Escalation Study to Evaluate the Safety and the Pharmacokinetics of Oral PRX-112A Phase 2a, Open-Label, Sequential Dose Escalation Study to Evaluate the Safety and the Pharmacokinetics of Oral PRX-112 (Plant Recombinant Human Glucocerebrosidase) in Enzyme Replacement Therapy-Naïve Subjects With Gaucher DiseaseGaucher DiseaseDrug: PRX-112ProtalixNULLCompleted18 YearsN/ABoth10Phase 2Israel
342NCT02124070
(ClinicalTrials.gov)
March 26, 201425/4/2014Therapeutic Effect of Recombinant Human Growth Hormone (rhGH) on the Myopathy of CystinosisTherapeutic Effect of Recombinant Human Growth Hormone (rhGH) on the Myopathy of CystinosisCystinosis;MyopathyDrug: rh Growth HormoneNational Human Genome Research Institute (NHGRI)NULLWithdrawn18 Years70 YearsAll0Phase 1;Phase 2United States
343NCT02055118
(ClinicalTrials.gov)
March 24, 201417/1/2014Study of Intrathecal Idursulfase-IT Administered in Conjunction With Elaprase® in Pediatric Patients With Hunter Syndrome and Early Cognitive ImpairmentA Controlled, Randomized, Two-arm, Open-label, Assessor-blinded, Multicenter Study of Intrathecal Idursulfase-IT Administered in Conjunction With Elaprase® in Pediatric Patients With Hunter Syndrome and Early Cognitive ImpairmentHunter SyndromeBiological: idursulfase-IT;Other: No IT treatmentShireNULLCompletedN/A18 YearsMale58Phase 2;Phase 3United States;Australia;Canada;France;Mexico;Spain;United Kingdom;Argentina;Colombia
344EUCTR2013-003450-24-NL
(EUCTR)
03/03/201421/11/2013Safety and Efficacy Study of HGT-1410 Administration in Pediatric Patients with Early Stage of Sanfilippo Syndrome Type AA Randomized, Controlled, Open-label, Multicenter, Phase IIb Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration via an Intrathecal Drug Delivery Device in Pediatric Patients with Early Stage Mucopolysaccharidosis Type III A Disease Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 17.1;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 17.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Recombinant human heparan N-sulfatase (rhHNS)
Product Code: HGT-1410
INN or Proposed INN: Not available
Other descriptive name: Recombinant human heparan N-sulfatase
Shire Human Genetic Therapies, IncNULLNot RecruitingFemale: yes
Male: yes
18Phase 2France;United States;Argentina;Spain;Germany;Netherlands;Italy;United Kingdom
345NCT02082327
(ClinicalTrials.gov)
March 20146/3/2014A Phase 1 Study To Evaluate the Safety of Migalastat Hydrochloride Given Intravenously to Healthy VolunteersA Phase 1, Randomized, Double-Blind, Placebo-Controlled, Single Dose Escalation Trial to Evaluate the Safety, Tolerability and Pharmacokinetics of Migalastat Hydrochloride Given Intravenously to Healthy Volunteers With an Open-Label, Randomized, Two-Way Crossover ArmFabry DiseaseDrug: IV migalastat HCl;Drug: IV placebo;Drug: oral migalastat HClAmicus TherapeuticsNULLCompleted18 Years45 YearsBoth31Phase 1Netherlands
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
346NCT02084121
(ClinicalTrials.gov)
March 20147/3/2014Allogeneic 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 InfusionTalaris Therapeutics Inc.Duke UniversityNo longer available3 YearsN/AMaleUnited States
347NCT02060526
(ClinicalTrials.gov)
February 26, 201410/2/2014Randomized, Controlled, Open-label, Multicenter, Safety and Efficacy Study of rhHNS Administration Via an IDDD in Pediatric Patients With Early Stage MPS IIIA DiseaseA Randomized, Controlled, Open-label, Multicenter, Phase IIb Safety and Efficacy Study of rhHNS (Recombinant Human Heparan N Sulfatase) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Early Stage Mucopolysaccharidosis Type IIIA DiseaseSanfilippo SyndromeDrug: Recombinant human heparan N-sulfatase [rhHNS]ShireNULLCompleted12 Months48 MonthsAll21Phase 2United States;Argentina;France;Germany;Italy;Netherlands;Spain;United Kingdom
348EUCTR2012-002773-64-IT
(EUCTR)
12/02/201421/11/2013A Long-Term Open-Label, Safety and Superior Effectiveness Study ofCysteamine Bitartrate Delayed-release Capsules (RP103) in Patients withCystinosisA Long-Term Open-Label, Safety and Superior Effectiveness Study ofCysteamine Bitartrate Delayed-release Capsules (RP103) in Patients withCystinosis - RP103-07 Cystinosis
MedDRA version: 16.1;Level: PT;Classification code 10011777;Term: Cystinosis;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Cysteamine bitartrate (INN: mercaptamine bitartrate )
Product Code: RP103
INN or Proposed INN: mercaptamine bitartrate
Product Name: Cysteamine bitartrate (INN: mercaptamine bitartrate )
Product Code: RP103
INN or Proposed INN: mercaptamine bitartrate
Trade Name: CYSTAGON
Product Name: Cystagon
INN or Proposed INN: Cystagon
Other descriptive name: Cysteamine bitartrate
Trade Name: CYSTAGON
Product Name: Cystagon
INN or Proposed INN: Cystagon
Other descriptive name: Cysteamine bitartrate
Raptor Therapeutics Inc.NULLNot RecruitingFemale: yes
Male: yes
60Phase 3France;United States;Belgium;Netherlands;Germany;United Kingdom;Italy
349EUCTR2012-002773-64-GB
(EUCTR)
22/01/201426/02/2013Study comparing the effectiveness of cysteamine bitartrate delayed release capsules (RP103) to Cystagon in Patients with Cystinosis(Adults and Children 12 years and older).A Long-Term Open-Label, Safety and Superior Effectiveness Study ofCysteamine Bitartrate Delayed-release Capsules (RP103) in Patients with Cystinosis - Superiority, Safety and Efficacy Study of RP103 in Cystinosis Cystinosis
MedDRA version: 20.0;Level: PT;Classification code 10011777;Term: Cystinosis;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Trade Name: PROCYSBI
Product Name: Cysteamine bitartrate (INN: mercaptamine bitartrate )
Product Code: RP103
INN or Proposed INN: mercaptamine bitartrate
Trade Name: PROCYSBI
Product Name: Cysteamine bitartrate (INN: mercaptamine bitartrate )
Product Code: RP103
INN or Proposed INN: mercaptamine bitartrate
Trade Name: Cystagon 50mg
Product Name: Cystagon
INN or Proposed INN: mercaptamine bitartrate
Trade Name: Cystagon 150mg
Product Name: Cystagon
INN or Proposed INN: mercaptamine bitartrate
Horizon Pharma USA, Inc.NULLNot RecruitingFemale: yes
Male: yes
60Phase 3France;United States;Belgium;Netherlands;Germany;Italy;United Kingdom
350EUCTR2012-002773-64-BE
(EUCTR)
21/01/201419/04/2013A Long-Term Open-Label, Safety and Superior Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Patients with CystinosisA Long-Term Open-Label, Safety and Superior Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Patients with Cystinosis - RP103-07 Cystinosis
MedDRA version: 14.1;Level: PT;Classification code 10011777;Term: Cystinosis;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: Cysteamine bitartrate (INN: mercaptamine bitartrate )
Product Code: RP103
INN or Proposed INN: mercaptamine bitartrate
Product Name: Cysteamine bitartrate (INN: mercaptamine bitartrate )
Product Code: RP103
INN or Proposed INN: mercaptamine bitartrate
Trade Name: Cystagon 50mg
Product Name: Cystagon
INN or Proposed INN: MERCAPTAMINE BITARTRATE
Trade Name: Cystagon 150mg
Product Name: Cystagon
INN or Proposed INN: MERCAPTAMINE BITARTRATE
Raptor Therapeutics Inc.NULLNot RecruitingFemale: yes
Male: yes
60Phase 3United States;France;Belgium;Netherlands;Germany;United Kingdom;Italy
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
351EUCTR2013-003450-24-ES
(EUCTR)
16/01/201412/11/2013Safety and Efficacy Study of HGT-1410 Administration in Pediatric Patients with Early Stage of Sanfilippo Syndrome Type AA Randomized, Controlled, Open-label, Multicenter, Phase IIb Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration via an Intrathecal Drug Delivery Device in Pediatric Patients with Early Stage Mucopolysaccharidosis Type III A Disease Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 14.1;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 14.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: heparán N sulfatasa humana recombinante (rhHNS)
Product Code: HGT-1410
INN or Proposed INN: No disponible
Other descriptive name: Heparán N sulfatasa humana recombinante
Shire Human Genetic Therapies, IncNULLNot RecruitingFemale: yes
Male: yes
18Phase 2France;United States;Argentina;Spain;Germany;Netherlands;Italy;United Kingdom
352EUCTR2013-003450-24-GB
(EUCTR)
08/01/201408/11/2013Safety and Efficacy Study of HGT-1410 Administration in Pediatric Patients with Early Stage of Sanfilippo Syndrome Type AA Randomized, Controlled, Open-label, Multicenter, Phase IIb Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration via an Intrathecal Drug Delivery Device in Pediatric Patients with Early Stage Mucopolysaccharidosis Type III A Disease Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA)
MedDRA version: 19.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 19.0;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Shire Human Genetic Therapies, IncNULLNot Recruiting Female: yes
Male: yes
18Phase 2France;United States;Argentina;Brazil;Spain;Netherlands;Germany;Italy;United Kingdom
353NCT01917708
(ClinicalTrials.gov)
January 201424/7/2013Bone Marrow Transplant With Abatacept for Non-Malignant DiseasesAbatacept for Post-Transplant Immune Suppression in Children and Adolescents Receiving Allogeneic Hematopoietic Stem Cell Transplants for Non-Malignant DiseasesHurler Syndrome;Fanconi Anemia;Glanzmann Thrombasthenia;Wiskott-Aldrich Syndrome;Chronic Granulomatous Disease;Severe Congenital Neutropenia;Leukocyte Adhesion Deficiency;Shwachman-Diamond Syndrome;Diamond-Blackfan Anemia;Dyskeratosis-congenita;Chediak-Higashi Syndrome;Severe Aplastic Anemia;Thalassemia Major;Hemophagocytic Lymphohistiocytosis;Sickle Cell DiseaseDrug: AbataceptEmory UniversityNULLCompletedN/A21 YearsAll10Phase 1United States
354NCT02841358
(ClinicalTrials.gov)
December 201311/7/2016Screening 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, GrenobleNULLTerminated18 YearsN/AAll22N/AFrance
355NCT01981720
(ClinicalTrials.gov)
December 20135/11/2013Extension Study of PRX-102 for up to 60 MonthsA Multi Center Extension Study of PRX-102 Administered by Intravenous Infusions Every 2 Weeks for up to 60 Months to Adult Fabry PatientsFabry DiseaseBiological: PRX-102 (pegunigalsidase alfa)ProtalixNULLActive, not recruiting18 YearsN/AAll15Phase 1;Phase 2United States;Paraguay;Spain;United Kingdom
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
356EUCTR2013-002554-78-ES
(EUCTR)
26/11/201320/09/2013An Extension of the PB102F01 study: A clinical study in patients with Fabry disease to assess the safety, tolerability, and the body processing of the medication PRX102, which will be given as an infusion.An Extension of Phase 1/2, Open Label, Dose Ranging Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Exploratory Efficacy Parameters of PRX-102 Administered by Intravenous Infusion Every 2 Weeks for 38 Weeks (9 Months) to Adult Fabry Patients Fabry disease
MedDRA version: 14.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: PRX102
Product Code: PRX102
INN or Proposed INN: PRX102
Product Name: PRX102
Product Code: PRX102
INN or Proposed INN: PRX102
Product Name: PRX102
Product Code: PRX102
INN or Proposed INN: PRX102
Protalix Ltd.NULLNot RecruitingFemale: yes
Male: yes
18Phase 1;Phase 2United States;Serbia;Paraguay;Spain;Australia;Israel;United Kingdom
357EUCTR2013-002885-38-ES
(EUCTR)
26/11/201308/10/2013Peadiatric study of Idursulfase-IT with Elaprase® in patients with Hunter Syndrome and early cognitive impairmentA Controlled,Randomized,Two-arm,Open-label,Assessor-blinded,Multicenter Study of Intrathecal Idursulfase-IT Administered in Conjunction with Elaprase® in Pediatric Patients with Hunter Syndrome and early Cognitive Impairment. Treatment of Hunter syndrome and cognitive impairment
MedDRA version: 16.0;Level: PT;Classification code 10056889;Term: Mucopolysaccharidosis II;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Name: Idursulfase-IT
Product Code: HGT-2310
INN or Proposed INN: IDURSULFASA
Other descriptive name: idursulfase-IT
Shire HGT IncNULLNot RecruitingFemale: no
Male: yes
42Phase 2;Phase 3United States;Mexico;Argentina;Spain;United Kingdom
358EUCTR2012-004786-40-ES
(EUCTR)
13/11/201305/09/2013Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Exploratory Efficacy Parameters of PRX-102 Administered by Intravenous Infusion to Adult Fabry PatientsA Phase 1/2, Open Label, Dose Ranging Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Exploratory Efficacy Parameters of PRX-102 Administered by Intravenous Infusion Every 2 Weeks for 12 Weeks to Adult Fabry Patients Fabry disease
MedDRA version: 16.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: PRX102
Product Code: PRX102
INN or Proposed INN: PRX102
Product Name: PRX102
Product Code: PRX102
INN or Proposed INN: PRX102
Product Name: PRX102
Product Code: PRX102
INN or Proposed INN: PRX102
Protalix Ltd.NULLNot RecruitingFemale: yes
Male: yes
18Phase 1;Phase 2United States;Serbia;Paraguay;Argentina;Spain;Australia;Israel;United Kingdom
359EUCTR2013-002885-38-GB
(EUCTR)
22/10/201311/09/2013Peadiatric study of Idursulfase-IT with Elaprase® in patients with Hunter Syndrome and early cognitive impairmentA Controlled,Randomized,Two-arm,Open-label,Assessor-blinded,Multicenter Study of Intrathecal Idursulfase-IT Administered in Conjunction with Elaprase® in Pediatric Patients with Hunter Syndrome and Early Cognitive Impairment. Long-term treatment of Hunter syndrome and cognitive impairment
MedDRA version: 20.0;Level: PT;Classification code 10056889;Term: Mucopolysaccharidosis II;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Shire HGT IncNULLNot Recruiting Female: no
Male: yes
54Phase 2;Phase 3France;United States;Mexico;Canada;Argentina;Spain;Australia;Germany;Colombia;United Kingdom
360EUCTR2011-004800-40-BE
(EUCTR)
07/10/201329/08/2013A Study using Migalastat to see the safety and usefulness of the drug in patients with Fabry Disease.An Open-Label Extension Study to Evaluate the Long Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in Subjects with Fabry Disease. Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the gene (GLA) that encodes the lysosomal enzyme a-galactosidase A.
MedDRA version: 17.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03]
Product Name: Migalastat Hydrochloride
Product Code: AT1001
INN or Proposed INN: Migalastat Hydrochloride
Other descriptive name: GR181413A
Amicus Therapeutics, Inc.NULLNot RecruitingFemale: yes
Male: yes
100Phase 3United States;Spain;Turkey;Austria;Italy;United Kingdom;Egypt;France;Canada;Argentina;Belgium;Brazil;Australia;Denmark
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
361NCT03300453
(ClinicalTrials.gov)
September 17, 201315/6/2016Intracerebral Gene Therapy in Children With Sanfilippo Type B SyndromeProtocol AMT110-CD-001: A Phase I/II, Open-label, Study of Intracerebral Administration of Adeno-associated Viral Vector Containing the Human Alpha-N-acetylglucosaminidase cDNA in Children With Sanfilippo Type B SyndromeSanfilippo Syndrome BDrug: rAAV2/5-hNAGLUUniQure Biopharma B.V.Venn Life Sciences;Institut PasteurCompleted18 Months60 MonthsAll4Phase 1;Phase 2France
362EUCTR2012-005430-11-DE
(EUCTR)
11/09/201310/04/2013Phase 1/2 study to evaluate safety and efficacy of BMN 190 in patients with CLN2A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 190 in Patients with Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2) Disease Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2)
MedDRA version: 17.1;Level: LLT;Classification code 10052074;Term: Neuronal ceroid lipofuscinosis NOS;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Product Name: N/A
Product Code: BMN 190
INN or Proposed INN: TBD
Other descriptive name: recombinant human tripeptidyl peptidase-1
BioMarin Pharmaceutical Inc.NULLNot RecruitingFemale: yes
Male: yes
22Phase 1;Phase 2Germany;United Kingdom
363EUCTR2012-003775-20-DE
(EUCTR)
11/09/201314/12/2012A safety and efficacy extension of study HGT-MLD-070 in Children with Metachromatic Leukodystrophy recieving enzyme (HGT-1110) replacement by intrathecal injectionAn Open-label Extension of Study HGT-MLD-070 Evaluating Long Term Safety and Efficacy of Intrathecal Administration of HGT-1110 in Patients with Metachromatic Leukodystrophy Treatment of Metachromatic Leukodystrophy
MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Product Code: SHP611
INN or Proposed INN: Not available
Other descriptive name: Recombinant Human Arylsulfatase A (rhASA)
Shire Human Genetics Therapies IncNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
24Phase 1;Phase 2France;Czech Republic;Brazil;Denmark;Australia;Germany;Japan;Italy;United Kingdom
364NCT01907087
(ClinicalTrials.gov)
September 201319/7/2013A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 190 in Patients With Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2) DiseaseA Phase 1/2 Open-Label Dose-Escalation Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 190 in Patients With Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) DiseaseJansky-Bielschowsky Disease;Batten Disease;Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2;CLN2 DiseaseBiological: BMN 190BioMarin PharmaceuticalNULLCompleted3 Years15 YearsAll24Phase 1;Phase 2United States;Germany;Italy;United Kingdom
365EUCTR2013-002554-78-GB
(EUCTR)
29/08/201309/09/2013An Extension of the PB-102-F01 study: A clinical study in patients with Fabry disease to assess the safety, tolerability, and the body processing of the medication PRX102, which will be given as an infusion.An Extension of Phase 1/2, Open-Label, Dose Ranging Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Exploratory Efficacy Parameters of PRX-102 Administered by Intravenous Infusion Every 2 Weeks for 38 Weeks (9 Months) to Adult Fabry Patients - PB-102-F02: Extension of the PB-102-F01 study (PRX-102 for ERT in Fabry Disease) Fabry disease
MedDRA version: 16.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: PRX-102
Product Code: PRX-102
INN or Proposed INN: PRX-102
Protalix Ltd.NULLNot RecruitingFemale: yes
Male: yes
18Phase 1;Phase 2United States;Paraguay;Argentina;Spain;Australia;Israel;Chile;United Kingdom
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
366EUCTR2012-002773-64-NL
(EUCTR)
15/08/201301/11/2013Study comparing the effectiveness of cysteamine bitartrate delayed-release capsules (RP103) in Patients with Cystinosis (Adult and Children 12 years and older)A Long-Term Open-Label, Safety and Superior Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Patients with Cystinosis - Superiority, Safety and Efficacy Study of RP103 in Cystinosis Cystinosis
MedDRA version: 20.0;Level: PT;Classification code 10011777;Term: Cystinosis;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Trade Name: PROCYSBI
Product Name: Cysteamine bitartrate (INN: mercaptamine bitartrate)
Product Code: RP103
INN or Proposed INN: mercaptamine bitartrate
Trade Name: PROCYSBI
Product Name: Cysteamine bitartrate (INN: mercaptamine bitartrate)
Product Code: RP103
INN or Proposed INN: mercaptamine bitartrate
Trade Name: Cystagon 50mg
Product Name: Cystagon
INN or Proposed INN: mercaptamine bitartrate
Trade Name: Cystagon 150mg
Product Name: Cystagon
INN or Proposed INN: mercaptamine bitartrate
Horizon Pharma USA, Inc.NULLNot RecruitingFemale: yes
Male: yes
60Phase 3France;United States;Belgium;Germany;Netherlands;Italy;United Kingdom
367EUCTR2012-005430-11-GB
(EUCTR)
15/08/201308/04/2013Phase 1/2 study to evaluate safety and efficacy of BMN 190 in patients with CLN2A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 190 in Patients with Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2) Disease Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2).
MedDRA version: 18.0;Level: LLT;Classification code 10052074;Term: Neuronal ceroid lipofuscinosis NOS;System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
BioMarin Pharmaceutical Inc.NULLNot Recruiting Female: yes
Male: yes
24Phase 1;Phase 2United States;Germany;Italy;United Kingdom
368EUCTR2013-001152-35-GB
(EUCTR)
02/08/201325/06/2013A safety and efficacy study in MPS 7 patients receiving enzyme (UX003) replacement by intravenous injectionAn Open-Label Phase 1/2 Study to Assess the Safety, Efficacy and Dose of UX003 rhGUS Enzyme Replacement Therapy in Patients with MPS 7 Mucopolysaccharidosis type 7 (MPS 7, Sly syndrome);Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]Ultragenyx Pharmaceutical Inc.NULLNot Recruiting Female: yes
Male: yes
5Phase 1;Phase 2Spain;United Kingdom
369NCT01908712
(ClinicalTrials.gov)
August 201316/7/2013Lamazym Aftercare Study FR Designed to Provide Treatment for French PatientsA Multi-center, Un-controlled, Open-labeled Trial of the Long-term Safety of Lamazym Aftercare Treatment of Subjects With Alpha-Mannosidosis Whom Previously Participated in Lamazym TrialsAlpha-MannosidosisDrug: LamazymChiesi Farmaceutici S.p.A.NULLEnrolling by invitationN/AN/AAll10Phase 3France
370EUCTR2012-000979-17-SE
(EUCTR)
30/07/201307/06/2013A Placebo-Controlled phase 3 trial of repeated Lamazym treatment of subjects with Alpha-MannosidosisA Multi-Center, Double-Blind, Randomized, Placebo-Controlled, Parallel Group Trial, Investigating the Efficacy and Safety of Repeated Lamazym Treatment of Subjects with alpha-Mannosidosis - Phase III