Expanded Access Program for R007 (Probucol) Tablets in Adults With Mitochondrial Disease and Chronic Kidney Disease

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

NCT01744782 ·Status: COMPLETED ·Phase: PHASE3

An Intermediate Size Expanded Access Protocol of Elamipretide

NCT04689360 ·Status: AVAILABLE

An Extension Study Evaluating Safety and Efficacy of Proellex® In Women Who Have Previously Completed ZPU 003 Ext

NCT00958893 ·Status: TERMINATED ·Phase: PHASE2

Evaluating the Safety and Efficacy of Proellex® (CDB-4124) in Premenopausal Women With Symptomatic Uterine Fibroids

NCT00735553 ·Status: TERMINATED ·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

Managed Access Programs for BYL719, Alpelisib

NCT04085653 ·Status: AVAILABLE

A Multicenter, Multi-national Open-label Program to Provide BMN 190 to Patients Diagnosed With CLN2 Disease

NCT02963350 ·Status: APPROVED_FOR_MARKETING

Trial of Erythrocyte Encapsulated Thymidine Phosphorylase In Mitochondrial Neurogastrointestinal Encephalomyopathy

NCT03866954 ·Status: WITHDRAWN ·Phase: PHASE2

A Open Label Study in Previously Studied, SBC-103 Treatment Naïve MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously

NCT02618512 ·Status: TERMINATED ·Phase: PHASE1/PHASE2

Open Label Study of mRNA-3704 in Patients With Isolated Methylmalonic Acidemia

NCT03810690 ·Status: WITHDRAWN ·Phase: PHASE1/PHASE2

Open-Label Study of mRNA-3927 in Participants With Propionic Acidemia

NCT04159103 ·Status: RECRUITING ·Phase: PHASE1/PHASE2

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

NCT00157118 ·Status: COMPLETED ·Phase: PHASE2/PHASE3

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

NCT06600425 ·Status: COMPLETED ·Phase: PHASE1

Safety and Tolerability of SYNB1618 in Healthy Adult Volunteers and Adult Subjects With Phenylketonuria

NCT03516487 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

Extension Study of PRX-102 for up to 60 Months

NCT01981720 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

Pharmacological Treatment of Rett Syndrome With Statins

NCT02563860 ·Status: COMPLETED ·Phase: PHASE2

A Study of Patients With Fabry Disease (US Specific)

NCT06906367 ·Status: RECRUITING

A Multi-Center Study of Riociguat in Patients With Sickle Cell Diseases

NCT02633397 ·Status: COMPLETED ·Phase: PHASE2

BMN 110 US Expanded Access Program

NCT01858103 ·Status: APPROVED_FOR_MARKETING

Sapropterin Expanded Access Program

NCT00484991 ·Status: APPROVED_FOR_MARKETING

A Study of the Safety and Tolerability in Participants With PIK3CA-related Overgrowth Spectrum or Proteus Syndrome Who Are Being Treated With Miransertib (MK-7075) in Other Studies (MK-7075-006)

NCT04980872 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE2

A Long-term Follow-up Study of Participants Who Received Delandistrogene Moxeparvovec (SRP-9001) in a Previous Clinical Study

NCT05967351 ·Status: ENROLLING_BY_INVITATION ·Phase: PHASE3

Drug Repurposing for Mitochondrial Disorders Using iPSCs Derived Neural Cells

NCT06967831 ·Status: RECRUITING

Safety and Tolerability Study of rAvPAL-PEG to Treat Phenylketonuria

NCT00634660 ·Status: COMPLETED ·Phase: PHASE1

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

NCT06261060 ·Status: RECRUITING ·Phase: PHASE2