Table 1.
Registered treatment studies for mitochondrial diseases (ClinicalTrials.gov 2015)
| Study title | Phase | Design | Medicine | Primary outcome(s) | Sites |
|---|---|---|---|---|---|
| Safety, Tolerability, Efficacy, PK and PD of RP103 in Children With Inherited Mitochondrial Disease (RP103‐MITO‐001) | II/III | Open Label | RP103 | Change in NPMDS | USA |
| EPI‐743 for Mitochondrial Respiratory Chain Diseases | II | Open Label | EPI‐743 | Change in Neuromuscular examination; AEs; Change in NPMDS | USA |
| Safety and Efficacy Study of EPI‐743 in Children With Leigh Syndrome | II | R, PC, DB | EPI‐743 | Change in NPMDS | USA |
| A Study Investigating the Safety, Tolerability, and Efficacy of MTP‐131 for the Treatment of Mitochondrial Myopathy | I/II | R, PC, DB | MTP‐131 | AEs; Change in vital signs; Changes in clinical laboratory evaluations | USA |
| RTA 408 Capsules in Patients With Mitochondrial Myopathy ‐ MOTOR | II | R, PC, DB | RTA408 | Change in peak workload (watts/kg) |
USA Denmark |
| EPI‐743 for Metabolism or Mitochondrial Disorders | II | R, PC, DB cross‐over | EPI‐743 | Change in NPMDS | USA |
| Phase 2 Study of EPI‐743 in Children With Pearson Syndrome | II | Open Label | EPI‐743 | Occurrence of episodes of sepsis, metabolic crisis or hepatic failure | USA |
| Safety Evaluation of Gene Therapy in Leber Hereditary Optic Neuropathy (LHON) Patients | I/II | Open Label | GS010 (AAV‐ND4) | Incidence of local and general adverse events and Serious Adverse Events | France |
| Safety and Efficacy Study of rAAV2‐ND4 Treatment of Leber Hereditary Optic Neuropathy (LHON) | I/II | Open Label | RAAV2‐ND4 | Visual acuity | China |
| Trial of Cyclosporine in the Acute Phase of Leber Hereditary Optic Neuropathy (CICLO‐NOHL) | II | Open Label | Cyclosporine | Visual acuity | France |
| Safety Study of an Adeno‐associated Virus Vector for Gene Therapy of Leber's Hereditary Optic Neuropathy (LHON) Caused by the G11778A Mutation (LHON GTT) | I | Open Label | scAAV2‐P1ND4v2 | AEs & SAEs | USA |
| MNGIE Allogeneic Hematopoietic Stem Cell Transplant Safety Study (MASS) | I | Open Label | Hematopoietic allogeneic stem cells | Neutrophil count (cells/l) | USA |
AE, adverse event; DB, double blind; NPMDS, Newcastle Paediatric Mitochondrial Disease Scale; PC, placebo controlled; PD, pharmacodynamics; PK, pharmacokinetics; R, randomised.