Expanded Access for ATB200/AT2221 for the Treatment of IOPD

Gene Transfer Study in Patients With Late Onset Pompe Disease

NCT04174105 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE1/PHASE2

Study to Evaluate the Safety of AT2220 (Duvoglustat) in Pompe Disease

NCT00688597 ·Status: TERMINATED ·Phase: PHASE2

A Global Prospective Observational Registry of Patients With Pompe Disease

NCT06121011 ·Status: RECRUITING

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

NCT02531217 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

A Study in Type 1 Gaucher Patients to Evaluate the Pharmacokinetics, Safety and Pharmacodynamics of AT2101

NCT00875160 ·Status: TERMINATED ·Phase: PHASE1

BMN 701 Phase 3 in rhGAA Exposed Subjects With Late Onset Pompe Disease (INSPIRE Study)

NCT01924845 ·Status: TERMINATED ·Phase: PHASE3

A Noninferiority Study of Alglucosidase Alfa Manufactured at the 160 L and 4000 L Scales in Treatment Naïve Patients With Infantile-Onset Pompe Disease

NCT01597596 ·Status: TERMINATED ·Phase: PHASE4

Evaluate Safety and Biological Activity of ATYR1940 in Participants With Early Onset Facioscapulohumeral Muscular Dystrophy

NCT02603562 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

Safety and Dose Ranging Study of Insulin Receptor MoAb-IDS Fusion Protein in Patients With Hunter Syndrome

NCT02262338 ·Status: COMPLETED ·Phase: PHASE1

Safety and Efficacy of AAV9/AP4B1 (BFB-101) For Patients With AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47)

NCT06948019 ·Status: NOT_YET_RECRUITING ·Phase: PHASE1/PHASE2

Evaluation of the Safety and Efficacy of Late-onset Pompe Disease Gene Therapy Drug

NCT06391736 ·Status: RECRUITING ·Phase: PHASE1/PHASE2

Safety/Tolerability/Pharmacokinetic (PK)/Pharmacodynamics (PD) Study of BMN701 in Patients With Late-Onset Pompe Disease

NCT01230801 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

A Study to Evaluate the Safety, Efficacy, PK, PD and Immunogenicity of Cipaglucosidase Alfa/Miglustat in IOPD Subjects Aged 0 to <18

NCT04808505 ·Status: RECRUITING ·Phase: PHASE3

Study of Tideglusib in Adolescent and Adult Patients With Myotonic Dystrophy

NCT02858908 ·Status: COMPLETED ·Phase: PHASE2

A First-in-human Study of EPI-321 in Facioscapulohumeral Muscular Dystrophy

NCT06907875 ·Status: RECRUITING ·Phase: PHASE1/PHASE2

A Study of AT2101 (Afegostat Tartrate) in Adult Patients With Type 1 Gaucher Disease Currently Receiving Enzyme Replacement Therapy

NCT00433147 ·Status: COMPLETED ·Phase: PHASE2

Miglustat in Niemann-Pick Type C Disease

NCT00517153 ·Status: COMPLETED ·Phase: PHASE2

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

Safety Study of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase to Treat Pompe Disease

NCT00976352 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

Safety and Dose Ranging Study of Insulin Receptor MAb-IDUA Fusion Protein in Patients With MPS I

NCT02371226 ·Status: COMPLETED ·Phase: PHASE1

An Initial Study of AZD7325 in Adults With Fragile X Syndrome

NCT03140813 ·Status: COMPLETED ·Phase: PHASE1

AAV2/8-LSPhGAA (ACTUS-101) in Late-Onset Pompe Disease

NCT03533673 ·Status: COMPLETED ·Phase: PHASE1

Avalglucosidase Alfa Extension Study

NCT02032524 ·Status: COMPLETED ·Phase: PHASE2

A Study to Evaluate the Effects of Pharmacological Chaperones in Cells From Patients With Pompe Disease

NCT00515398 ·Status: COMPLETED

Evaluation of the Safety and Efficacy of Infantile-onset Pompe Disease Gene Therapy Drug

NCT05793307 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE1/PHASE2