The Symani Restore Study

Natural History Studies of Mucopolysaccharidosis III

NCT02037880 ·Status: COMPLETED

Validating a New Severity Score System for Adults With Type 1 Gaucher Disease (GD1)

NCT01136304 ·Status: COMPLETED

Open-Label Extension Study to Assess GLM101 in PMM2-CDG Patients

NCT06657859 ·Status: ENROLLING_BY_INVITATION ·Phase: PHASE2

Psychological Concomitants of Morquio A Syndrome - Longitudinal Effects of Enzyme Replacement Therapy (The MAPLE Study)

NCT02208661 ·Status: COMPLETED

Study of SOM0226 in Familial Amyloid Polyneuropathy

NCT02191826 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

Autologous Stem Cell Transplantation of Cells Engineered to Express Alpha-Galactosidase A in Patients With Fabry Disease

NCT02800070 ·Status: COMPLETED ·Phase: PHASE1

Intracerebral Gene Therapy for Sanfilippo Type A Syndrome

NCT01474343 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

Natural History of Oculo-Pharyngeal Muscular Dystrophy (OPMD) - Israel National OPMD Registry

NCT07146256 ·Status: RECRUITING

N-Acetyl-L-Leucine for GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease)

NCT03759665 ·Status: COMPLETED ·Phase: PHASE2

Natural History Study of Patients With MPS IIIA

NCT02746341 ·Status: COMPLETED

An Extension Study of JR-141-BR21 in Patients With Mucopolysaccharidosis II

NCT03708965 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE2

Personalized Antisense Oligonucleotide Therapy for A Single Participant With ATN1 Gene Mutation

NCT06706388 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE1/PHASE2

TPN-101 in Aicardi-Goutières Syndrome (AGS)

NCT05613868 ·Status: TERMINATED ·Phase: PHASE2

STXBP1 and SYNGAP1 Related Disorders Natural History Study

NCT06555965 ·Status: RECRUITING

Study of the Quality of Life of Patients With Fabry Disease Aged 65 and Over With and Without Specific Treatment

NCT07277361 ·Status: RECRUITING

Natural History Study to Characterise the Course of Disease Progression in Participants With Mucopolysaccharidosis Type IIIB

NCT02293408 ·Status: TERMINATED

Safety, Tolerability, Pharmacokinetics (PK), and Activity of ATYR1940 in Participants With Muscular Dystrophy - Study Extension

NCT02531217 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

Expanded Access Use of Myozyme (Alglucosidase Alfa) in Patients With Late-onset Pompe Disease

NCT00074932 ·Status: COMPLETED ·Phase: NA

An Extension Study of the Long-Term Safety, Tolerability, and Efficacy of Tividenofusp Alfa (DNL310) in Participants With Mucopolysaccharidosis Type II (MPS II) From Study DNLI-E-0002 or Study DNLI-E-0007

NCT06075537 ·Status: ENROLLING_BY_INVITATION ·Phase: PHASE2/PHASE3

A Study of Patients With Sanfilippo Syndrome Type A (MPS IIIA)

NCT01047306 ·Status: COMPLETED

Extension Study of Long-term Safety and Efficacy of Myozyme in Patients With Pompe Disease Who Were Previously Enrolled in Genzyme Sponsored Enzyme Replacement Therapy (ERT) Studies

NCT00763932 ·Status: COMPLETED ·Phase: PHASE2

Phase 2 Study Evaluating the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Oral AZ-3102 in Patients With GM2 Gangliosidosis or Niemann-Pick Type C Disease

NCT05758922 ·Status: COMPLETED ·Phase: PHASE2

A Natural History Study of Biomarkers and Clinical Outcomes in Mucopolysaccharidosis Type IIIA (MPS IIIA; Sanfilippo Syndrome)

NCT05523206 ·Status: COMPLETED

A Study of the Safety, Tolerability, Pharmacokinetics, and Immunogenicity of Intravitreal Injections of FCFD4514S in Patients With Geographic Atrophy

NCT00973011 ·Status: COMPLETED ·Phase: PHASE1

Facioscapulohumeral Dystrophy in Children

NCT02625662 ·Status: COMPLETED