4 completed, 2 terminated, 1 enrolling by invitation, 1 not yet recruiting. 11 Phase 2, 1 Phase 3.
| Phase | Trials | Status |
|---|---|---|
| Phase 2 | 11 | Completed 4, Terminated 2, Enrolling by invitation 1, Not yet recruiting 1, Recruiting 1, Suspended 1, Withdrawn 1 |
| Phase 3 | 1 | Terminated 1 |
Follow Pyruvate Metabolism, Inborn Errors: new trials by email Literature Review of Pyruvate Metabolism, Inborn Errors trials Research Report on Pyruvate Metabolism, Inborn Errors
Tick up to 5 trials to compare them side by side (eligibility, arms, endpoints, adverse events) in a Literature Matrix.
| Trial | Phase | Status | Sponsor | Enrollment | Start | Updated |
|---|---|---|---|---|---|---|
| A Dose-ranging Study of TTI-0102 in Adults and Children With Leigh Syndrome Spectrum (LSS) TTI-0102: cysteamine-pantetheine disulfide, D-Mannitol - Leigh Syndrome | Phase 2 | Not yet recruiting | Thiogenesis Therapeutics, Inc. | 18 | 2026-10-01 | 2026-07-24 |
| Efficacy and Safety of the Treatment of Pyruvate Dehydrogenase Deficiency Patients With Glycerol Phenylbutyrate (RAVICTI) Glycerol Phenylbutyrate 1100 MG/ML [Ravicti] - Pyruvate Dehydrogenase Complex Deficiency Disease | Phase 2 | Recruiting | Assistance Publique - Hôpitaux de Paris | 15 | 2025-10-01 | 2026-03-31 |
| Sirolimus for Leigh Syndrome Sirolimus - Leigh Syndrome | Phase 2 | Enrolling by invitation | Matthew Demczko | 15 | 2025-02-27 | 2026-03-31 |
| ABI-009 (Nab-sirolimus) in Patients With Genetically-confirmed Leigh or Leigh-like Syndrome ABI-009 - Leigh Syndrome | Phase 2 | Withdrawn | Aadi Bioscience, Inc. | 2022-04-30 | 2022-02-01 | |
| The KHENERGYC Study Sonlicromanol, Placebo - Mitochondrial Diseases, Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation | Phase 2 | Suspended | Khondrion BV | 24 | 2021-02-01 | 2025-01-10 |
| A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy Vatiquinone, Placebo - Mitochondrial Diseases, Drug Resistant Epilepsy | Phase 2 / Phase 3 | Terminated | PTC Therapeutics | 68 | 2020-09-28 | 2026-03-31 |
| Use of Phenylbutyrate Therapy for Patients With Pyruvate Dehydrogenase Complex Deficiency. sodium phenylbutyrate - Pyruvate Dehydrogenase Complex Deficiency | Phase 2 | Completed | Fondazione Telethon | 1 | 2018-10-01 | 2021-10-13 |
| A Long-term Extension of Study RP103-MITO-001 (NCT02023866) to Assess Cysteamine Bitartrate Delayed-release Capsules (RP103) in Children With Inherited Mitochondrial Disease Cysteamine Bitartrate - Mitochondrial Diseases | Phase 2 | Terminated | Amgen | 22 | 2015-05-19 | 2024-12-27 |
| Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease Cysteamine Bitartrate - Inherited Mitochondrial Disease, Including Leigh Syndrome | Phase 2 | Completed | Amgen | 36 | 2014-05-01 | 2024-12-27 |
| Long-Term Safety and Efficacy Evaluation of EPI-743 in Children With Leigh Syndrome EPI-743 - Leigh Syndrome | Phase 2 | Completed | PTC Therapeutics | 30 | 2014-01-31 | 2024-10-23 |
| Safety and Efficacy Study of EPI-743 in Children With Leigh Syndrome Placebo, EPI-743 15 mg/kg, EPI-743 5 mg/kg - Leigh Syndrome | Phase 2 | Completed | PTC Therapeutics | 35 | 2012-10-31 | 2020-08-31 |
Leigh Disease (9) · Mitochondrial Diseases (5) · Epilepsies, Myoclonic (2) · MELAS Syndrome (2) · Mitochondrial Encephalomyopathies (2) · Ophthalmoplegia, Chronic Progressive External (2) · Optic Atrophy, Hereditary, Leber (2) · Pyruvate Dehydrogenase Complex Deficiency Disease (2) · Acidosis, Lactic (1) · Diffuse Cerebral Sclerosis of Schilder (1) · Drug Resistant Epilepsy (1) · Fatigue (1) · MERRF Syndrome (1) · Mitochondrial encephalopathy (1) · Nerve Degeneration (1)
Brain Diseases (11) · Brain Diseases, Metabolic (11) · Brain Diseases, Metabolic, Inborn (11) · Carbohydrate Metabolism, Inborn Errors (11) · Central Nervous System Diseases (11) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (11) · Genetic Diseases, Inborn (11) · Metabolic Diseases (11) · Metabolism, Inborn Errors (11) · Nervous System Diseases (11) · Nutritional and Metabolic Diseases (11) · Mitochondrial Diseases (6) · Neurologic Manifestations (5) · Heredodegenerative Disorders, Nervous System (4)
alpha-tocotrienol quinone (3) · Cysteamine (2) · 4-phenylbutyric acid (1) · 6-hydroxy-2,5,7,8-tetramethylchroman-2-carboxylic acid (1) · Mannitol (1) · Sirolimus (1) · cysteamine-pantetheine disulfide (1) · glycerol phenylbutyrate (1)
PTC Therapeutics (3) · Amgen (2) · Aadi Bioscience, Inc. (1) · Assistance Publique - Hôpitaux de Paris (1) · Fondazione Telethon (1) · Khondrion BV (1) · Matthew Demczko (1) · Thiogenesis Therapeutics, Inc. (1)
United States (6) · France (2) · Italy (2) · Canada (1) · Japan (1) · Netherlands (1) · Poland (1) · Spain (1) · Sweden (1) · United Kingdom (1)
Bruce Cohen, MD (1) · Lonneke de Boer, MD (1) · Matthew Demczko, MD (1) · Patrice Rioux, MD, PhD (1) · Vinay Penematsa, MD (1) · Zarazuela Zolkipli-Cunningham, MBChB, MRCP (1)