Compassionate Use of Deferiprone in Patients With PKAN

Pirfenidone in Treating Young Patients With Neurofibromatosis Type 1 and Plexiform Neurofibromas

NCT00053937 ·Status: COMPLETED ·Phase: PHASE1

Open-label Study of VTS-270 in Participants With Neurologic Manifestations of Niemann-Pick Type C1

NCT03879655 ·Status: TERMINATED ·Phase: PHASE2/PHASE3

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

rAAVrh74.MHCK7.DYSF.DV for Treatment of Dysferlinopathies

NCT02710500 ·Status: COMPLETED ·Phase: PHASE1

Efficacy and Safety Study of Protein C Concentrate in Subjects With Severe Congenital Protein C Deficiency

NCT00157118 ·Status: COMPLETED ·Phase: PHASE2/PHASE3

Natural History Study of Patients With Canavan Disease (CANinform Study)

NCT04126005 ·Status: COMPLETED

Clinical Characterization on PDE6A-related Retinitis Pigmentosa in Preparation to a Gene Therapy Trial

NCT02759952 ·Status: COMPLETED

A Study to Assess the Safety, Tolerability, Ciliary Rescue, and Pharmacodynamics of RCT1100 in Adults With PCD

NCT06600425 ·Status: COMPLETED ·Phase: PHASE1

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

Extension Study of PRX-102 for up to 60 Months

NCT01981720 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

Senicapoc and Dehydrated Stomatocytosis

NCT04372498 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

Phase I/II Trial of Everolimus in Combination With Lonafarnib in Progeria

NCT02579044 ·Status: ENROLLING_BY_INVITATION ·Phase: PHASE1/PHASE2

Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1

NCT02124083 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

Sapropterin Expanded Access Program

NCT00484991 ·Status: APPROVED_FOR_MARKETING

A Study of Vatiquinone for the Treatment of Participants With Friedreich Ataxia

NCT05485987 ·Status: COMPLETED ·Phase: PHASE2

Phase 1/2 Study of CAN103 in Subjects With Gaucher Disease

NCT05447494 ·Status: UNKNOWN ·Phase: PHASE1/PHASE2

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

NCT02531217 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

Treatment Protocol of Plozasiran in Adults With High-Risk Severe Hypertriglyceridemia (SHTG) and in Adults and Adolescents With FCS

NCT06796426 ·Status: AVAILABLE

Open Label Extension Study of 1 mg/kg Pegunigalsidase Alfa Every 2 Weeks in Patients With Fabry Disease

NCT03566017 ·Status: COMPLETED ·Phase: PHASE3

Neuroimaging and Neurocognitive Assessment and Response to Sapropterin Dihydrochloride Treatment in Phenylketonuria

NCT01412437 ·Status: WITHDRAWN ·Phase: NA

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

NCT02603562 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

Gene Therapy Study for Children With CLN5 Batten Disease

NCT05228145 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE1/PHASE2

Phase II Trial of Lonafarnib (a Farnesyltransferase Inhibitor) for Progeria

NCT00425607 ·Status: COMPLETED ·Phase: PHASE2

Phase IA and IB Study of AAVrh.10hFXN Gene Therapy for the Cardiomyopathy of Friedreich's Ataxia

NCT05302271 ·Status: RECRUITING ·Phase: PHASE1

Mobilization and Collection of Peripheral Blood Stem Cells in Patients With Fanconi Anemia Using G-CSF and Plerixafor

NCT02678533 ·Status: COMPLETED ·Phase: PHASE1/PHASE2