3 completed, 3 recruiting, 2 withdrawn, 1 enrolling by invitation. 6 Phase 2, 1 Phase 1, 1 Phase 3.
| Phase | Trials | Status |
|---|---|---|
| Phase 2 | 6 | Completed 2, Enrolling by invitation 1, Not yet recruiting 1, Terminated 1, Withdrawn 1 |
| Phase 1 | 1 | Completed 1 |
| Phase 3 | 1 | Terminated 1 |
Follow Leigh Syndrome: new trials by email Literature Review of Leigh Syndrome trials Research Report on Leigh Syndrome
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| A Study of the Natural Course of SURF1 Deficiency None (Observational study) - Leigh Syndrome | Withdrawn | Taysha Gene Therapies, Inc. | 2022-05-04 | 2022-05-20 | ||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in Patients With Genetically-confirmed Leigh or Leigh-like Syndrome ABI-009 - Leigh Syndrome | Phase 2 | Withdrawn | Aadi Bioscience, Inc. | 2022-04-30 | 2022-02-01 | |
| 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 |
| 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 Dose-escalating Clinical Trial With KH176 KH176, placebo - MELAS, LHON | Phase 1 | Completed | Khondrion BV | 32 | 2015-05-01 | 2021-10-18 |
| 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 |
| Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Rare Disorders, Undiagnosed Disorders | Recruiting | Sanford Health | 20000 | 2010-07-01 | 2026-10-28 | |
| Global Registry and Natural History Study for Mitochondrial Disorders Mitochondrial Diseases, Kearns-Sayre Syndrome | Recruiting | LMU Klinikum | 6000 | 2009-02-01 | 2026-08-07 |
Leigh Disease (11) · Mitochondrial Diseases (6) · MELAS Syndrome (3) · Ataxia Neuropathy Spectrum (2) · MERRF Syndrome (2) · Nerve Degeneration (2) · Neuropathy ataxia and retinitis pigmentosa (2) · 3-Methylglutaconic Aciduria, Type V (1) · Achalasia Addisonianism Alacrimia syndrome (1) · Acrodysostosis (1) · Activated PI3K-delta Syndrome (1) · Addison Disease (1) · Alagille Syndrome (1) · Alstrom Syndrome (1) · Amnesia, Transient Global (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) · Pyruvate Metabolism, Inborn Errors (11) · Mitochondrial Diseases (5) · Cardiovascular Diseases (4) · Cerebrovascular Disorders (4)
alpha-tocotrienol quinone (3) · 6-hydroxy-2,5,7,8-tetramethylchroman-2-carboxylic acid (1) · Mannitol (1) · Observation (1) · Sirolimus (1) · cysteamine-pantetheine disulfide (1)
PTC Therapeutics (3) · Aadi Bioscience, Inc. (1) · Khondrion BV (1) · LMU Klinikum (1) · Matthew Demczko (1) · Sanford Health (1) · Taysha Gene Therapies, Inc. (1) · The University of Texas Health Science Center, Houston (1) · Thiogenesis Therapeutics, Inc. (1)
United States (7) · Italy (2) · Austria (1) · Belgium (1) · Canada (1) · France (1) · Germany (1) · Japan (1) · Poland (1) · Spain (1) · Sweden (1) · United Kingdom (1)
Bruce Cohen, MD (1) · Mary Kay Koenig, MD (1) · Matthew Demczko, MD (1) · Michelangelo Mancuso, Prof. Dr. (1) · Patrice Rioux, MD, PhD (1) · Thomas Klopstock, Prof. Dr. (1) · Vinay Penematsa, MD (1) · Zarazuela Zolkipli-Cunningham, MBChB, MRCP (1)