RG2133 (2',3',5'-Tri-O-Acetyluridine) in Mitochondrial Disease

Long-term Follow-Up for RGX-121

NCT04597385 ·Status: UNKNOWN

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

NCT06600425 ·Status: COMPLETED ·Phase: PHASE1

Drug Repurposing for Mitochondrial Disorders Using iPSCs Derived Neural Cells

NCT06967831 ·Status: RECRUITING

A Study of VRG50635 in Healthy Volunteers

NCT06286475 ·Status: COMPLETED ·Phase: PHASE1

A Study of Patients With Fabry Disease (US Specific)

NCT06906367 ·Status: RECRUITING

Safety/Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Cysteamine Treatment Naive Patients With Cystinosis

NCT01744782 ·Status: COMPLETED ·Phase: PHASE3

Safety and Efficacy of CC-10004 for Prurigo Nodularis

NCT00869089 ·Status: COMPLETED ·Phase: PHASE2

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

NCT03566017 ·Status: COMPLETED ·Phase: PHASE3

Low-Dose Sirolimus to Increase Hematopoietic Function in Patients With RUNX1 Familial Platelet Disorder

NCT06261060 ·Status: RECRUITING ·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

Safety and Efficacy Study of Fx-1006A in Patients With Familial Amyloidosis

NCT00409175 ·Status: COMPLETED ·Phase: PHASE2/PHASE3

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

NCT02531217 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

Open Label Extension of 2 mg/kg Pegunigalsidase Alfa (PRX-102) Every 4 Weeks in Adult Fabry Disease Patients

NCT03614234 ·Status: COMPLETED ·Phase: PHASE3

Open-Label Extension Trial to Characterize the Long-term Safety and Tolerability of Elamipretide in Subjects With Genetically Confirmed Primary Mitochondrial Myopathy (PMM)

NCT02976038 ·Status: TERMINATED ·Phase: PHASE2

A Study of the Safety, Tolerability, Pharmacokinetics, and Immunogenicity of Intravitreal Injections of FCFD4514S in Patients With Geographic Atrophy

NCT00973011 ·Status: COMPLETED ·Phase: PHASE1

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

NCT02898753 ·Status: TERMINATED ·Phase: PHASE1/PHASE2

A Study With RO4917523 in Patients With Fragile X Syndrome

NCT01015430 ·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

Study of STG-001 in Subjects With Stargardt Disease

NCT04489511 ·Status: COMPLETED ·Phase: PHASE2

A proof-of Concept Study to Assess Safety and Tolerability of HM15421/GC1134A in Patients With Fabry Disease

NCT06858397 ·Status: RECRUITING ·Phase: PHASE1/PHASE2

Long Term Follow-Up for RGX-111

NCT06103487 ·Status: ENROLLING_BY_INVITATION

A Study to Evaluate the Safety, Tolerability, PK and PD of Intracerebroventricular GC1123 in Patients with MPS Ⅱ

NCT05422482 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE1

RGX-121 Gene Therapy in Children 5 Years of Age and Over With MPS II (Hunter Syndrome)

NCT04571970 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

The Safety and Efficacy of Intravenous EXG110 in Patients With Fabry Disease

NCT06819514 ·Status: NOT_YET_RECRUITING ·Phase: PHASE1/PHASE2

Intrathecal Gene Therapy For SLC13A5 Citrate Transporter Disorder

NCT07102524 ·Status: NOT_YET_RECRUITING ·Phase: PHASE1/PHASE2