Adeno-Associated Virus (AAV) Antibody Study in Subjects OTC Deficiency, GSDIa, and Wilson Disease

A Phase 1 Research Study to Evaluate Safety, Tolerability, and Pharmacokinetics of WVE-006 in Healthy Participants With Wild-type AAT Expression (RestorAATion-1)

NCT06186492 ·Status: COMPLETED ·Phase: PHASE1

A Study About Antibody Levels and Biomarkers in the Blood in People With Late-onset Pompe Disease

NCT06150820 ·Status: ACTIVE_NOT_RECRUITING ·Phase: NA

Neutralizing Antibody Seroprevalence Study With a Retrospective Component in Participants With Late-Onset Pompe Disease

NCT03893240 ·Status: COMPLETED ·Phase: NA

A Safety and Efficacy Study of GTX-102 in Subjects With Deletion- or Nondeletion-type Angelman Syndrome (AS)

NCT07157254 ·Status: RECRUITING ·Phase: PHASE2

Efficacy and Safety Study of WTX101 (ALXN1840) in Adult Wilson Disease Patients

NCT02273596 ·Status: COMPLETED ·Phase: PHASE2

A Phase 1/2/3 Study of UX701 Gene Therapy in Adults With Wilson Disease

NCT04884815 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE1/PHASE2

A Study of OV101 in Individuals With Angelman Syndrome (AS)

NCT04106557 ·Status: COMPLETED ·Phase: PHASE3

Evaluation of the Efficacy and Safety of VX-814 in Subjects With the PiZZ Genotype

NCT04167345 ·Status: TERMINATED ·Phase: PHASE2

A Study to Evaluate Efficacy and Safety of VX-864 in Participants With the PiZZ Genotype

NCT05643495 ·Status: TERMINATED ·Phase: PHASE2

Safety and Efficacy Evaluation of Repeat neoGAA Dosing in Late Onset Pompe Disease Patients.

NCT01898364 ·Status: COMPLETED ·Phase: PHASE1

Evaluation of Long Term Safety and Efficacy of Glepaglutide in Treatment of SBS - Extension Trial

NCT04881825 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE3

REVEAL: A Phase 3 Study of ION582 in Angelman Syndrome

NCT06914609 ·Status: RECRUITING ·Phase: PHASE3

Long Term Follow-up on Menkes Disease Patients

NCT04337684 ·Status: ACTIVE_NOT_RECRUITING

A Study in Adults and Adolescents With Angelman Syndrome (STARS)

NCT02996305 ·Status: COMPLETED ·Phase: PHASE2

Phase II Pilot Study of Aminoimidazole Carboxamide Riboside (AICAR), a Precursor of Purine Synthesis, for Lesch-Nyhan Disease

NCT00004314 ·Status: COMPLETED ·Phase: PHASE2

Phase 2, Open-Label Study to Evaluate the Safety and Tolerability of Progerinin in Werner Syndrome

NCT05847179 ·Status: NOT_YET_RECRUITING ·Phase: PHASE2

The Long-term Effect on Intestinal Absorption and Safety of Treatment With Glepaglutide in Patients With Short Bowel Syndrome

NCT04991311 ·Status: COMPLETED ·Phase: PHASE3

Safety and Effectiveness Study of rhGAA in Patients With Advanced Late-Onset Pompe Disease Receiving Respiratory Support

NCT00268944 ·Status: COMPLETED ·Phase: PHASE3

Study of the Pathophysiology of RNU4ATAC and RTTN Associated Syndromes

NCT06111950 ·Status: RECRUITING ·Phase: NA

A Study of OV101 in Individuals With Fragile X Syndrome

NCT03697161 ·Status: COMPLETED ·Phase: PHASE2

Long Term Follow-Up for Safety of AVR-RD-02

NCT06488261 ·Status: ACTIVE_NOT_RECRUITING

Suitability of Nitisinone in Alkaptonuria 2

NCT01916382 ·Status: UNKNOWN ·Phase: PHASE3

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

NCT04995315 ·Status: COMPLETED

A Prospective, Observational Study in Patients With Late-Onset Pompe Disease

NCT00077662 ·Status: COMPLETED

Safety and Tolerability of Subretinally Injected OPGx-BEST1 in Patients With Best Vitelliform Macular Dystrophy (BVMD) or Autosomal-Recessive Bestrophinopathy (ARB)

NCT07185256 ·Status: RECRUITING ·Phase: PHASE1/PHASE2