9 recruiting, 6 completed, 2 enrolling by invitation, 2 no longer available. 11 Phase 2, 3 Phase 3, 2 Phase 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 |
| Triheptanoin for Children With Primary-Specific Pyruvate Dehydrogenase Complex (PDC) Deficiency Triheptanoin - Pyruvate Dehydrogenase Complex Deficiency | Phase 1 | Recruiting | Jirair Krikor Bedoyan | 6 | 2024-07-11 | 2026-02-17 |
| 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| A Study of the Natural Course of SURF1 Deficiency None (Observational study) - Leigh Syndrome | Withdrawn | Taysha Gene Therapies, Inc. | 2022-05-04 | 2022-05-20 | ||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in Patients With Genetically-confirmed Leigh or Leigh-like Syndrome ABI-009 - Leigh Syndrome | Phase 2 | Withdrawn | Aadi Bioscience, Inc. | 2022-04-30 | 2022-02-01 | |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 |
| Natural History Study of Pyruvate Dehydrogenase Deficiency Pyruvate Dehydrogenase Complex Deficiency, Pyruvate Dehydrogenase E1 Alpha Deficiency | Unknown | Great Ormond Street Hospital for Children NHS Foundation Trust | 50 | 2020-11-01 | 2023-12-05 | |
| 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 |
| Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency: Dichloroacetate (DCA), Placebo, Genotype - Pyruvate Dehydrogenase Complex Deficiency | Phase 3 | Active not recruiting | Saol Therapeutics Inc | 34 | 2020-07-14 | 2025-05-04 |
| 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 | |
| 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 |
| Long-term Treatment With the Ketogenic Diet in Epilepsy Color duplex ultrasound of the carotid arteries - Epilepsy, GLUT1DS1 | Unknown | Oslo University Hospital | 30 | 2018-08-06 | 2022-10-21 | |
| Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies No intervention - Pyruvate Dehydrogenase Complex Deficiency Disease | Recruiting | University of Pittsburgh | 150 | 2015-09-01 | 2026-10-05 | |
| 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 |
Showing 20 of 29. Sign in to see all of them.
Leigh Disease (20) · Mitochondrial Diseases (13) · Pyruvate Dehydrogenase Complex Deficiency Disease (9) · MELAS Syndrome (8) · MERRF Syndrome (4) · Ophthalmoplegia, Chronic Progressive External (4) · Barth Syndrome (3) · Mitochondrial Encephalomyopathies (3) · Neuropathy ataxia and retinitis pigmentosa (3) · Optic Atrophy, Hereditary, Leber (3) · Acidosis, Lactic (2) · Ataxia Neuropathy Spectrum (2) · Deafness (2) · Diffuse Cerebral Sclerosis of Schilder (2) · Drug Resistant Epilepsy (2)
Brain Diseases, Metabolic (29) · Brain Diseases, Metabolic, Inborn (29) · Carbohydrate Metabolism, Inborn Errors (29) · Central Nervous System Diseases (29) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (29) · Genetic Diseases, Inborn (29) · Metabolic Diseases (29) · Metabolism, Inborn Errors (29) · Nervous System Diseases (29) · Nutritional and Metabolic Diseases (29) · Brain Diseases (28) · Mitochondrial Diseases (16) · Neurologic Manifestations (14) · Heredodegenerative Disorders, Nervous System (13)
alpha-tocotrienol quinone (5) · 6-hydroxy-2,5,7,8-tetramethylchroman-2-carboxylic acid (2) · Cysteamine (2) · Dichloroacetic Acid (2) · triheptanoin (2) · 4-phenylbutyric acid (1) · Blood Specimen Collection (1) · Genotype (1) · Mannitol (1) · Observation (1) · Sirolimus (1) · cysteamine-pantetheine disulfide (1) · glycerol phenylbutyrate (1)
PTC Therapeutics (5) · Amgen (2) · Columbia University (2) · Khondrion BV (2) · Saol Therapeutics Inc (2) · Aadi Bioscience, Inc. (1) · Assistance Publique - Hôpitaux de Paris (1) · Charite University, Berlin, Germany (1) · Fondazione Telethon (1) · Great Ormond Street Hospital for Children NHS Foundation Trust (1) · Jerry Vockley, MD, PhD (1) · Jirair Krikor Bedoyan (1) · LMU Klinikum (1) · Matthew Demczko (1) · National Human Genome Research Institute (NHGRI) (1)
United States (18) · Italy (4) · France (3) · United Kingdom (3) · Canada (2) · Germany (2) · Japan (2) · Poland (2) · Spain (2) · Austria (1) · Belgium (1) · Netherlands (1) · Norway (1) · Sweden (1)
Michio Hirano, MD (2) · Vinay Penematsa, MD (2) · Anette Ramm-Pettersen, MD PhD (1) · Bruce Cohen, MD (1) · Gregory Enns, MB, ChB (1) · Jerry Vockley, MD, PhD (1) · Jirair Bedoyan, MD, PhD (1) · Jirair K. Bedoyan, MD, PhD (1) · Kiki Diorgu, M.D. (1) · Lonneke de Boer, MD (1) · Markus Schuelke, MD (1) · Mary Kay Koenig, MD (1) · Matthew Demczko, MD (1) · Michelangelo Mancuso, Prof. Dr. (1)
PMID 29037240, PMID 33771987, PMID 35477351, PMID 36137325, PMID 36669241, PMID 40112238
U54NS078059 (2), P01HD032062 (1)