Natural History of the Progression of X-Linked Retinitis Pigmentosa

STXBP1 and SYNGAP1 Related Disorders Natural History Study

NCT06555965 ·Status: RECRUITING

EXPLAIN -FragilE X Registry: An exPlorative Longitudinal Study for chAracterIzation, Treatment Pathways and patieNt-related Outcomes

NCT01711606 ·Status: TERMINATED

Natural History Study of ENPP1 Deficiency and the Early-onset Form of ABCC6 Deficiency

NCT05050669 ·Status: COMPLETED

Safety and Efficacy Study of LX103 Treatment of X-Linked Retinoschisis (XLRS)

NCT05814952 ·Status: RECRUITING ·Phase: NA

Angelman Syndrome Natural History Study-FAST UK

NCT05100810 ·Status: RECRUITING

Safety and Efficacy of rAAV-hRS1 in Patients With X-linked Retinoschisis (XLRS)

NCT02416622 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

A Study to Check Liver Health in Boys With XLMTM, a Serious Genetic Muscle Condition

NCT06581146 ·Status: RECRUITING

ASXL-Related Disorders Natural History Study

NCT03303716 ·Status: RECRUITING

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

NCT05878860 ·Status: RECRUITING ·Phase: PHASE3

An Observational Study in Children and Adults With Stargardt Disease

NCT06591806 ·Status: RECRUITING

A First-in-Human, Open-Label, Dose-Escalation Study to Evaluate the Safety and Tolerability of Gene Therapy With TTX-381 for the Ocular Manifestations Associated With Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) Disease

NCT05791864 ·Status: RECRUITING ·Phase: PHASE1/PHASE2

Retrospective and Prospective Observational Study of MRI Changes in Bone and Visceral Lesions of Patients With Type 1 Gaucher Disease Treated With VPRIV® (Velaglucerase Alfa)

NCT03333447 ·Status: COMPLETED

Metformin in Children and Adults With Fragile X Syndrome

NCT03722290 ·Status: COMPLETED ·Phase: PHASE2

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

A Study of RO4917523 in Patients With Fragile X Syndrome

NCT01517698 ·Status: COMPLETED ·Phase: PHASE2

Long-term Safety and Efficacy Outcome Study Comparing Children Previously Enrolled in Study ROPP-2008-01 for the Prevention of Retinopathy of Prematurity (ROP)

NCT02386839 ·Status: COMPLETED ·Phase: PHASE2

Understanding the Natural History Early in the Course or Presentation of Friedreich Ataxia

NCT06560346 ·Status: WITHDRAWN

A Trial of Metformin in Individuals With Fragile X Syndrome (Met)

NCT03862950 ·Status: COMPLETED ·Phase: PHASE2

CHOPXE - Analysis of Choriocapillaris Flow Deficits in Patients With Pseudoxanthoma Elasticum

NCT07006649 ·Status: RECRUITING ·Phase: NA

Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.

NCT04880356 ·Status: RECRUITING

Pyruvate Kinase Deficiency Natural History Study

NCT02053480 ·Status: COMPLETED

LGMD R1 Natural History Study

NCT05618080 ·Status: RECRUITING

Riluzole in Fragile X Syndrome

NCT00895752 ·Status: COMPLETED ·Phase: PHASE4

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

NCT05200104 ·Status: WITHDRAWN ·Phase: PHASE2

Safety and Efficacy of a Single Subretinal Injection of JWK002 Gene Therapy in Subjects With X-linked Retinoschisis(XLRS)

NCT06345898 ·Status: RECRUITING ·Phase: EARLY_PHASE1