NCT #
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Study Title
Status
Conditions
Intervention
Sponsors
Study Type

Open-Label Expanded Access Treatment With Pegunigalsidase Alfa for Fabry Disease Patients

AVAILABLE
Fabry Disease

DRUG: Pegunigalsidase Alfa

Chiesi Farmaceutici S.p.A.

EXPANDED ACCESS

A Study of Enzyme Replacement Therapy (VPRIV) in People With Type 1 Gaucher Disease Who Were Previously Treated With Substrate Reduction Therapy

COMPLETED

Gaucher Disease

OTHER: Digital Engagement Application (GD App)|OTHER: No Intervention

Takeda

INTERVENTIONAL

An Open-label, Phase 1/2 Trial of Gene Therapy 4D-310 in Adults With Fabry Disease

ACTIVE NOT RECRUITING

Fabry Disease

BIOLOGICAL: 4D-310

4D Molecular Therapeutics

INTERVENTIONAL

Open Label Extension Study of 1 mg/kg Pegunigalsidase Alfa Every 2 Weeks in Patients With Fabry Disease

ACTIVE NOT RECRUITING

Fabry Disease

DRUG: Pegunigalsidase Alfa

Chiesi Farmaceutici S.p.A.

INTERVENTIONAL

Efficacy and Safety of Lucerastat Oral Monotherapy in Adult Subjects With Fabry Disease

COMPLETED

Fabry Disease

DRUG: Lucerastat|DRUG: Placebo

Idorsia Pharmaceuticals Ltd.

INTERVENTIONAL

Study to Evaluate the Efficacy and Safety of Venglustat in Adult and Pediatric Patients With Gaucher Disease Type 3

RECRUITING

Gaucher Disease Type 3

DRUG: Venglustat|DRUG: imiglucerase

Sanofi

INTERVENTIONAL

A Gene Transfer Study for Late-Onset Pompe Disease (RESOLUTE)

ACTIVE NOT RECRUITING

Pompe Disease|Pompe Disease (Late-onset)|Glycogen Storage Disease Type 2|Glycogen Storage Disease Type II|LOPD|Lysosomal Storage Diseases|Acid Maltase Deficiency

GENETIC: SPK-3006

Spark Therapeutics

INTERVENTIONAL

ZIP Study-OL Study of Safety, PK, Efficacy, PD, Immunogenicity of ATB200/ AT2221 in Pediatrics Aged: 0 to < 18 y.o. w/LOPD

RECRUITING

Pompe Disease (Late-onset)

BIOLOGICAL: Cipaglucosidase Alfa |DRUG: Miglustat

Amicus Therapeutics

INTERVENTIONAL

Study of Immune Globulin Intravenous (Human) GC5107 in Pediatric Subjects With Primary Humoral Immunodeficiency

RECRUITING

Primary Immune Deficiency

BIOLOGICAL: GC5107

Green Cross Corporation

INTERVENTIONAL

Inflammatory Pathways and Cardiac Growth Factors Associated With Fabry Disease Cardiomyopathy

UNKNOWN

Fabry Disease

DIAGNOSTIC_TEST: biomarkers

Lysosomal and Rare Disorders Research and Treatment Center, Inc.

OBSERVATIONAL

Immune Biomarkers Related to Bone Pathology in Patients With Type 1 Gaucher Disease

UNKNOWN

Gaucher Disease Type 1

Lysosomal and Rare Disorders Research and Treatment Center, Inc.

OBSERVATIONAL

A Study to Evaluate the Effect of Venglustat Tablets on Left Ventricular Mass Index in Male and Female Adult Participants With Fabry Disease

RECRUITING

Fabry Disease

DRUG: Venglustat (GZ402671) |DRUG: Agalsidase alfa |DRUG: Agalsidase beta (GZ419828) |DRUG: Migalastat

Sanofi

INTERVENTIONAL

Screening of Lysosomal Storage Disorders Diseases in Minority Groups

UNKNOWN

Lysosomal Storage Diseases

DIAGNOSTIC TEST: Enzyme assay and molecular sequencing

Lysosomal and Rare Disorders Research and Treatment Center, Inc.

OBSERVATIONAL

A Study to Evaluate Migalastat in Fabry Subjects With Amenable GLA Variant and Renal Disease.

RECRUITING

Fabry Disease

DRUG: migalastat HCl 150 mg

Amicus Therapeutics

INTERVENTIONAL

A Fabry Disease Gene Therapy Study

TERMINATED

Fabry Disease | Lysosomal Storage Diseases

GENETIC: FLT190

Freeline Therapeutics

INTERVENTIONAL

A Study Comparing ATB200/ AT2221 With Alglucosidase Alfa/ Placebo in Adult Subjects With Late-onset Pompe Disease

COMPLETED

Pompe Disease (Late-onset)

BIOLOGICAL: Cipaglucosidase Alfa| DRUG: Miglustat| BIOLOGICAL: Alglucosidase Alfa| DRUG: Placebo

Amicus Therapeutics

INTERVENTIONAL

A Study of Velaglucerase Alfa (VPRIV) Given as Standard Patient Care in Young Children With Gaucher Disease

RECRUITING

Gaucher Disease

OTHER: Standard of Care

Takeda

OBSERVATIONAL

A Study to Evaluate the Long-term Safety and Tolerability of Lucerastat in Adult Subjects With Fabry Disease

ACTIVE NOT RECRUITING

Fabry Disease

DRUG: Lucerastat

Idorsia Pharmaceuticals Ltd.

INTERVENTIONAL

Cellular Pharmacodynamics of Small Molecules in Lysosomal Storage Disorders

UNKNOWN

Lysosomal Storage Diseases

Lysosomal and Rare Disorders Research and Treatment Center, Inc.

OBSERVATIONAL

A Gene Therapy Study in Patients With Gaucher Disease Type 1

RECRUITING

Gaucher Disease, Type 1

GENETIC: FLT201

Freeline Therapeutics

INTERVENTIONAL

Study of the Safety and Efficacy of PRX-102 Compared to Agalsidase Beta on Renal Function

COMPLETED

Fabry Disease

BIOLOGICAL: PRX-102 (pegunigalsidase alfa)| BIOLOGICAL: agalsidase beta

Protalix

INTERVENTIONAL

Venglustat in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 With Venglustat Monotherapy Extension

ACTIVE NOT RECRUITING

Gaucher Disease Type 1| Gaucher Disease Type 3

DRUG: venglustat (GZ402671)|DRUG: imiglucerase

Genzyme, a Sanofi Company

INTERVENTIONAL

Biomarker Analysis for GBA Associated Parkinson's Disease

UNKNOWN

Parkinson Disease| Gaucher Disease

DRUG: Pegunigalsidase Alfa

Lysosomal and Rare Disorders Research and Treatment Center, Inc.

OBSERVATIONAL

A Study to Assess the Long-term Safety and Efficacy of ATB200/AT2221 in Adult Subjects With LOPD

ACTIVE NOT RECRUITING

Pompe Disease (Late-onset)

DRUG: AT2221| BIOLOGICAL: ATB200

Amicus Therapeutics

INTERVENTIONAL

Phase 3 Study to Evaluate Intravenous Trappsol(R) Cyclo(TM) in Pediatric and Adult Patients With Niemann-Pick Disease Type C1

RECRUITING

Niemann-Pick Disease, Type C1

DRUG: Hydroxypropyl-beta-cyclodextrin| DRUG: Placebo

Cyclo Therapeutics, Inc.

INTERVENTIONAL

Safety, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged >12 Years) With Fabry Disease

ACTIVE NOT RECRUITING

Fabry Disease

DRUG: migalastat HCl 150 mg

Amicus Therapeutics

INTERVENTIONAL

Open Label Extension of 2 mg/kg Pegunigalsidase Alfa (PRX-102) Every 4 Weeks in Adult Fabry Disease Patients

ACTIVE NOT RECRUITING

Fabry Disease

DRUG: Pegunigalsidase Alfa

Chiesi Farmaceutici S.p.A.

INTERVENTIONAL

Pharmacokinetics, Pharmacodynamics And Safety Study Of Elelyso(tm) In Pediatric Subjects With Type 1 Gaucher Disease

WITHDRAWN

Type 1 Gaucher Disease

DRUG: Elelyso 60 units/kg

Pfizer

INTERVENTIONAL

Study to Compare the Efficacy and Safety of Enzyme Replacement Therapies Avalglucosidase Alfa and Alglucosidase Alfa Administered Every Other Week in Patients With Late-onset Pompe Disease Who Have Not Been Previously Treated for Pompe Disease

COMPLETED

Glycogen Storage Disease Type II; Pompe's Disease

DRUG: Avalglucosidase alfa (GZ402666)| DRUG: Alglucosidase alfa (GZ419829)

Genzyme, a Sanofi Company

INTERVENTIONAL

A Study to Evaluate the Effect of Venglustat Tablets on Neuropathic and Abdominal Pain in Male and Female Participants ≥16 Years of Age With Fabry Disease

RECRUITING

Fabry Disease

DRUG: Venglustat (GZ402671)| DRUG: Placebo

Sanofi

INTERVENTIONAL

Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged 12 to <18 Years)

COMPLETED

Fabry Disease

DRUG: Migalastat HCl 150 mg

Amicus Therapeutics

INTERVENTIONAL

Dose-Ranging Study of ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy in Subjects With Fabry Disease (STAAR)

ACTIVE NOT RECRUITING

Fabry Disease

BIOLOGICAL: ST-920

Sangamo Therapeutics

INTERVENTIONAL

Fabry Patient's Experience Of PegunigaLsidasE Alfa Monthly Infusion

COMPLETED

Fabry Disease

OTHER: Interview

Chiesi Farmaceutici S.p.A.

OBSERVATIONAL

Safety and Efficacy of HMI-203 in ERT-Treated Adults With MPS II

WITHDRAWN

Mucopolysaccharidosis II

BIOLOGICAL: Genetic HMI-203

Homology Medicines, Inc

INTERVENTIONAL

A Clinical Trial of PR001 (LY3884961) in Patients With Peripheral Manifestations of Gaucher Disease (PROCEED)

RECRUITING

Gaucher Disease| Gaucher Disease, Type 1

GENETIC: LY3884961

Prevail Therapeutics

INTERVENTIONAL

Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2

COMPLETED

GM1 Gangliosidosis| GM2 Gangliosidosis| Gaucher Disease, Type 2| Tay-Sachs Disease| AB Variant Gangliosidosis GM2| Sandhoff Disease

DRUG: Pegunigalsidase Alfa

Idorsia Pharmaceuticals Ltd.

OBSERVATIONAL