6 recruiting, 5 completed, 2 enrolling by invitation, 2 terminated. 9 Phase 2, 2 Phase 3, 1 Phase 1.
| Phase | Trials | Status |
|---|---|---|
| Phase 2 | 9 | Completed 3, Terminated 2, Enrolling by invitation 1, Not yet recruiting 1, Suspended 1, Withdrawn 1 |
| Phase 3 | 2 | Completed 1, Terminated 1 |
| Phase 1 | 1 | Completed 1 |
Follow Leigh Disease: new trials by email Literature Review of Leigh Disease trials Research Report on Leigh Disease
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 |
| Sirolimus for Leigh Syndrome Sirolimus - Leigh Syndrome | Phase 2 | Enrolling by invitation | Matthew Demczko | 15 | 2025-02-27 | 2026-03-31 |
| A Safety Study for Previously Treated Vatiquinone (PTC743) Participants With Inherited Mitochondrial Disease Vatiquinone - Inherited Mitochondrial Disease | Phase 3 | Completed | PTC Therapeutics | 101 | 2022-06-22 | 2025-12-22 |
| A Study of the Natural Course of SURF1 Deficiency None (Observational study) - Leigh Syndrome | Withdrawn | Taysha Gene Therapies, Inc. | 2022-05-04 | 2022-05-20 | ||
| 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in Patients With Genetically-confirmed Leigh or Leigh-like Syndrome ABI-009 - Leigh Syndrome | Phase 2 | Withdrawn | Aadi Bioscience, Inc. | 2022-04-30 | 2022-02-01 | |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 |
| Drug Repurposing for Mitochondrial Disorders Using iPSCs Derived Neural Cells skin biopsy, generation of iPSCs, blood drawing - Leigh Syndrome (Maternally Inherited, MILS), Leigh Syndrome (AR, AD, XR) | Recruiting | Charite University, Berlin, Germany | 80 | 2020-03-01 | 2025-05-13 | |
| The International Registry for Leigh Syndrome Leigh Syndrome, Leigh Disease | Recruiting | The University of Texas Health Science Center, Houston | 200 | 2015-06-17 | 2023-12-01 | |
| 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 |
| A Dose-escalating Clinical Trial With KH176 KH176, placebo - MELAS, LHON | Phase 1 | Completed | Khondrion BV | 32 | 2015-05-01 | 2021-10-18 |
| 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 |
| The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism Oxidative Phosphorylation Deficiencies, Electron Transport Chain Disorders, Mitochondrial | Recruiting | National Human Genome Research Institute (NHGRI) | 500 | 2012-12-31 | 2026-10-16 | |
| 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 |
| Tissue Sample Study for Mitochondrial Disorders Mitochondrial Disorders, Mitochondrial Disease | Enrolling by invitation | Columbia University | 6900 | 2012-02-01 | 2026-01-07 | |
| North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Mitochondrial Disorders, Mitochondrial Genetic Disorders | Recruiting | Columbia University | 1000 | 2011-01-31 | 2026-02-04 | |
| Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Rare Disorders, Undiagnosed Disorders | Recruiting | Sanford Health | 20000 | 2010-07-01 | 2025-05-29 | |
| Global Registry and Natural History Study for Mitochondrial Disorders Mitochondrial Diseases, Kearns-Sayre Syndrome | Recruiting | LMU Klinikum | 6000 | 2009-02-01 | 2026-08-07 | |
| EPI-743 for Mitochondrial Respiratory Chain Diseases EPI-743 - Mitochondrial Diseases | No longer available | PTC Therapeutics | 2024-01-23 |
Mitochondrial Diseases (13) · MELAS Syndrome (8) · MERRF Syndrome (4) · Ophthalmoplegia, Chronic Progressive External (4) · Mitochondrial Encephalomyopathies (3) · Neuropathy ataxia and retinitis pigmentosa (3) · Optic Atrophy, Hereditary, Leber (3) · Acidosis, Lactic (2) · Ataxia Neuropathy Spectrum (2) · Barth Syndrome (2) · Deafness (2) · Diffuse Cerebral Sclerosis of Schilder (2) · Drug Resistant Epilepsy (2) · Epilepsies, Myoclonic (2)
Brain Diseases, Metabolic (20) · Brain Diseases, Metabolic, Inborn (20) · Carbohydrate Metabolism, Inborn Errors (20) · Central Nervous System Diseases (20) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (20) · Genetic Diseases, Inborn (20) · Metabolic Diseases (20) · Metabolism, Inborn Errors (20) · Nervous System Diseases (20) · Nutritional and Metabolic Diseases (20) · Pyruvate Metabolism, Inborn Errors (20) · Brain Diseases (19) · Muscular Diseases (11) · Musculoskeletal Diseases (11) · Neuromuscular Diseases (11)
alpha-tocotrienol quinone (5) · 6-hydroxy-2,5,7,8-tetramethylchroman-2-carboxylic acid (2) · Cysteamine (2) · Blood Specimen Collection (1) · Mannitol (1) · Observation (1) · Sirolimus (1) · cysteamine-pantetheine disulfide (1)
PTC Therapeutics (5) · Amgen (2) · Columbia University (2) · Khondrion BV (2) · Aadi Bioscience, Inc. (1) · Charite University, Berlin, Germany (1) · LMU Klinikum (1) · Matthew Demczko (1) · National Human Genome Research Institute (NHGRI) (1) · Sanford Health (1) · Taysha Gene Therapies, Inc. (1) · The University of Texas Health Science Center, Houston (1) · Thiogenesis Therapeutics, Inc. (1)
United States (14) · Italy (3) · Canada (2) · France (2) · Germany (2) · Japan (2) · Poland (2) · Spain (2) · United Kingdom (2) · Australia (1) · Austria (1) · Belgium (1) · Netherlands (1) · Sweden (1)
Michio Hirano, MD (2) · Vinay Penematsa, MD (2) · Bruce Cohen, MD (1) · Gregory Enns, MB, ChB (1) · Lonneke de Boer, MD (1) · Markus Schuelke, MD (1) · Mary Kay Koenig, MD (1) · Matthew Demczko, MD (1) · Michelangelo Mancuso, Prof. Dr. (1) · Patrice Rioux, MD, PhD (1) · Peter J McGuire, M.D. (1) · Thomas Klopstock, Prof. Dr. (1) · Zarazuela Zolkipli-Cunningham, MBChB, MRCP (1)
PMID 29037240, PMID 33771987, PMID 35477351, PMID 36137325, PMID 36669241, PMID 40112238
P01HD032062 (1), U54NS078059 (1)