The Effect of Monoallelic Variants in the ALPL Gene on the Natural Course of Hypophosphatasia in Russia

Disease Progression in Women With X-linked Adrenoleukodystrophy

NCT06178120 ·Status: RECRUITING

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

NCT05367960 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE3

Retrospective, Non-interventional Natural History of Patients With Juvenile-onset Hypophosphatasia (HPP)

NCT02104219 ·Status: COMPLETED

Study to Assess PXL065 in Subjects With Adrenomyeloneuropathy (AMN) Form of X-linked Adrenoleukodystrophy (X-ALD or ALD)

NCT05200104 ·Status: WITHDRAWN ·Phase: PHASE2

Efficacy, Safety and Tolerability of AFQ056 in Fragile X Patients

NCT00718341 ·Status: COMPLETED ·Phase: PHASE2

A Long-Term Safety Study of PTC923 in Participants With Phenylketonuria

NCT05166161 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE3

Ataluren for Nonsense Mutation Methylmalonic Acidemia

NCT01141075 ·Status: TERMINATED ·Phase: PHASE2

Clinical Benefit, Safety, PK and PD Study of AT-007 in Pediatric Subjects With Classic Galactosemia

NCT04902781 ·Status: COMPLETED ·Phase: PHASE2/PHASE3

A Phase 2 Open Label Extension Study in Participants With Nonsense Mutation Aniridia

NCT04117880 ·Status: WITHDRAWN ·Phase: PHASE2

ATSN-201 Gene Therapy in RS1-Associated X-linked Retinoschisis

NCT05878860 ·Status: RECRUITING ·Phase: PHASE3

Natural History Study of ATP1A3-related Disease

NCT03857607 ·Status: UNKNOWN

Faslodex in McCune-Albright Syndrome

NCT00278915 ·Status: COMPLETED ·Phase: PHASE2

Natural History of the Progression of X-Linked Retinitis Pigmentosa

NCT04926129 ·Status: COMPLETED

A Randomized Study of BPN14770 in Male Adolescents (Aged 9 to < 18 Years) With Fragile X Syndrome

NCT05163808 ·Status: COMPLETED ·Phase: PHASE2/PHASE3

An Initial Study of AZD7325 in Adults With Fragile X Syndrome

NCT03140813 ·Status: COMPLETED ·Phase: PHASE1

A Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AG-181 in Subjects With Phenylketonuria

NCT07241234 ·Status: RECRUITING ·Phase: PHASE1

Study of Hydroxychloroquine in Patients With X-linked Alport Syndrome in China (CHXLAS)

NCT04937907 ·Status: COMPLETED ·Phase: PHASE2

Safety and Pharmacokinetics of AT-007 in Healthy Subjects and in Adult Subjects With Classic Galactosemia

NCT04117711 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

An Open-Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Once Daily Mexiletine PR in Patients With Myotonic Dystrophy Type 1 and Type 2 Who Have Completed MEX-DM-302 Study.

NCT06549400 ·Status: ENROLLING_BY_INVITATION ·Phase: PHASE3

A Multicenter Extension Study of Taliglucerase Alfa in Adult Subjects With Gaucher Disease

NCT01422187 ·Status: COMPLETED ·Phase: PHASE3

Suitability of Nitisinone in Alkaptonuria 2

NCT01916382 ·Status: UNKNOWN ·Phase: PHASE3

Study to Evaluate the Safety and Efficacy of Afamelanotide in Patients With Variegate Porphyria (VP)

NCT05854784 ·Status: COMPLETED ·Phase: PHASE2

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

NCT02531217 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

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

NCT02603562 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

Efficacy and Safety of Odevixibat in Patients With Alagille Syndrome

NCT04674761 ·Status: COMPLETED ·Phase: PHASE3