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

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

NCT00515398 ·Status: COMPLETED

Pompe Gene Therapy- Screening for Eligibility

NCT03285126 ·Status: COMPLETED

Phase 1/2 Study of FRF-001, an AAV-9 Gene Therapy, in Patients With FOXG1 Syndrome (FS)

NCT07293546 ·Status: NOT_YET_RECRUITING ·Phase: PHASE1/PHASE2

TPN-101 in Aicardi-Goutières Syndrome (AGS)

NCT05613868 ·Status: TERMINATED ·Phase: PHASE2

A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease (NPC)

NCT07082725 ·Status: RECRUITING ·Phase: PHASE3

Clinical Exploration of Adeno-associated Virus (AAV) Expressing Human Acid Alpha- Glucosidase (GAA) Gene Therapy for Patients With Infantile-onset Pompe Disease

NCT05567627 ·Status: RECRUITING ·Phase: NA

VAL-1221 Delivered Intravenously in Ambulatory and Ventilator-free Participants With Late-Onset Pompe Disease

NCT02898753 ·Status: TERMINATED ·Phase: PHASE1/PHASE2

Gene Therapy Clinical Study in Adult PKU

NCT03952156 ·Status: TERMINATED ·Phase: PHASE1/PHASE2

An Open-Label Study to Assess the Safety & Efficacy of Leniolisib in Japanese Patients With APDS

NCT06249997 ·Status: RECRUITING ·Phase: PHASE3

AAV Gene Therapy Study for Subjects with PKU

NCT04480567 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE1/PHASE2

A Study of BPN14770 in Male Adults (Aged 18 to 45) With Fragile X Syndrome

NCT05358886 ·Status: COMPLETED ·Phase: PHASE3

Evaluation of the Safety, Tolerability and Efficacy of Gene Therapy Drug for Late Onset Pompe Disease (LOPD)

NCT06178432 ·Status: NOT_YET_RECRUITING ·Phase: EARLY_PHASE1

First-In-Human Study to Evaluate Safety, Tolerability, and PK of Intravenous ATB200 Alone and When Co-Administered With Oral AT2221

NCT02675465 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

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

NCT00976352 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

A Long-Term Follow-up Study of Subjects With Gaucher Disease Who Previously Received AVR-RD-02

NCT04836377 ·Status: TERMINATED

An Open-Label Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of OV101 in Individuals With Angelman Syndrome

NCT03882918 ·Status: TERMINATED ·Phase: PHASE3

AAV Gene Therapy Clinical Study in Adult Classic PKU (PHEdom)

NCT06332807 ·Status: RECRUITING ·Phase: PHASE1/PHASE2

A Clinical Trial to Evaluate the Safety of RP-L102 in Pediatric Subjects With Fanconi Anemia Subtype A

NCT03814408 ·Status: UNKNOWN ·Phase: PHASE1

Study of STG-001 in Subjects With Stargardt Disease

NCT04489511 ·Status: COMPLETED ·Phase: PHASE2

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

Miglustat in Niemann-Pick Type C Disease

NCT00517153 ·Status: COMPLETED ·Phase: PHASE2

Pyruvate Kinase Deficiency Global Longitudinal Registry Substudy of Protocol AG348-C-008

NCT04995315 ·Status: COMPLETED

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

NCT00688597 ·Status: TERMINATED ·Phase: PHASE2

Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 in Mucopolysaccharidosis III, Type B (MPS IIIB)

NCT02324049 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

An Open-Label Extension Study of BPN14770 in Subjects With Fragile X Syndrome

NCT05367960 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE3