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TrialConditionsStatusPhaseUpdatedMore infoNCT ID
A Basket Clinical Study to Assess Glycerol Tributyrate in Patients With Mitochondrial Encephalopathy, Lactic Acidosis, Stroke-like Episodes (MELAS) or Leber's Hereditary Optic Neuropathy-Plus (LHON-Plus)Acid-Base Imbalance, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cerebral Small Vessel Diseases, Cognition Disorders, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Dyskinesias, Ear Diseases, MELAS syndrome, Neurologic Manifestations, Nutritional and Metabolic Diseases, Pathological Conditions, Signs and Symptoms, Sensation Disorders, Signs and Symptoms, Tremor, acidosis disorder, anxiety disorder, brain disorder, cardiovascular disorder, central nervous system disorder, cerebrovascular disorder, cognitive disorder, dystonic disorder, eye disorder, headache disorder, hearing disorder, hearing loss disorder, hereditary disease, hypnic headache, inborn errors of metabolism, inborn mitochondrial metabolism disorder, inborn mitochondrial myopathy, lactic acidosis, metabolic disease, migraine disorder, mitochondrial encephalomyopathy, muscle tissue disorder, musculoskeletal system disorder, nervous system disorder, neuromuscular disease, otorhinolaryngologic disease, psychiatric disorder, vascular disorder, vision disorder, visual epilepsyNot yet recruitingPhase 1 / Phase 22026-10-05NCT06792500
Global Registry and Natural History Study for Mitochondrial DisordersAbnormalities, Multiple, Barth syndrome, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cardiovascular Abnormalities, Cerebral Small Vessel Diseases, Chronic Disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Epilepsies, Myoclonic, Epilepsy, Generalized, Epileptic Syndromes, Kearns-Sayre syndrome, Leber hereditary optic neuropathy, Leigh syndrome, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, MELAS syndrome, MERRF syndrome, NARP syndrome, Neurologic Manifestations, Nutritional and Metabolic Diseases, Ocular Motility Disorders, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Pearson syndrome, Pyruvate Metabolism, Inborn Errors, Signs and Symptoms, X-linked disease, ataxia neuropathy spectrum, brain disorder, cardiomyopathy, cardiovascular disorder, central nervous system disorder, cerebrovascular disorder, coenzyme Q10 deficiency, congenital heart disease, cranial nerve neuropathy, epilepsy, eye disorder, heart disorder, hereditary disease, inborn carbohydrate metabolic disorder, inborn errors of metabolism, inborn mitochondrial metabolism disorder, inborn mitochondrial myopathy, inherited retinal dystrophy, maternally-inherited diabetes and deafness, metabolic disease, mitochondrial encephalomyopathy, mitochondrial neurogastrointestinal encephalomyopathy, muscle tissue disorder, musculoskeletal system disorder, myelodysplastic syndrome, nervous system disorder, neuromuscular disease, ophthalmoplegia, palsy, progressive external ophthalmoplegia, progressive myoclonus epilepsy, retinal degeneration, retinal disorder, retinitis pigmentosa, spinocerebellar ataxia with epilepsy, vascular disorder, very long chain acyl-CoA dehydrogenase deficiencyRecruitingNot stated2026-08-07NCT05554835
An Open-label Extension Safety Study of MELAS Patients Who Completed TIS6463-203 (PRIZM)Acid-Base Imbalance, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cerebral Small Vessel Diseases, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, MELAS syndrome, Mitochondrial encephalopathy, Nutritional and Metabolic Diseases, acidosis disorder, brain disorder, cardiovascular disorder, central nervous system disorder, cerebrovascular disorder, hereditary disease, inborn errors of metabolism, inborn mitochondrial metabolism disorder, inborn mitochondrial myopathy, lactic acidosis, metabolic disease, mitochondrial encephalomyopathy, muscle tissue disorder, musculoskeletal system disorder, nervous system disorder, neuromuscular disease, vascular disorderActive, not recruitingPhase 22026-07-07NCT06961344
KHENERFIN Study: A Trial to Evaluate the Efficacy and Safety of Sonlicromanol in Primary Mitochondrial DiseasesBrain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cerebral Small Vessel Diseases, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, MELAS syndrome, Nutritional and Metabolic Diseases, brain disorder, cardiovascular disorder, central nervous system disorder, cerebrovascular disorder, hereditary disease, inborn errors of metabolism, inborn mitochondrial metabolism disorder, inborn mitochondrial myopathy, maternally-inherited diabetes and deafness, metabolic disease, mitochondrial encephalomyopathy, muscle tissue disorder, musculoskeletal system disorder, nervous system disorder, neuromuscular disease, vascular disorderRecruitingPhase 32026-06-29NCT06451757
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)Abnormalities, Multiple, Acid-Base Imbalance, Barth syndrome, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cardiovascular Abnormalities, Cerebral Small Vessel Diseases, Chronic Disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Deafness, Disease Attributes, Ear Diseases, Epilepsies, Myoclonic, Epilepsy, Generalized, Epileptic Syndromes, Eye Diseases, Hereditary, Kearns-Sayre syndrome, Leber hereditary optic neuropathy, Leigh syndrome, Leukoencephalopathies, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, MELAS syndrome, MERRF syndrome, NARP syndrome, Neurologic Manifestations, Nutritional and Metabolic Diseases, Ocular Motility Disorders, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Pyruvate Metabolism, Inborn Errors, Sensation Disorders, Signs and Symptoms, Visceral myopathy familial external ophthalmoplegia, X-linked disease, acidosis disorder, brain disorder, cardiomyopathy, cardiovascular disorder, central nervous system disorder, cerebrovascular disorder, congenital heart disease, cranial nerve neuropathy, diabetes mellitus, disease, endocrine system disorder, epilepsy, eye disorder, glucose metabolism disease, hearing disorder, hearing loss disorder, heart disorder, hereditary disease, hereditary optic atrophy, inborn carbohydrate metabolic disorder, inborn errors of metabolism, inborn mitochondrial metabolism disorder, inborn mitochondrial myopathy, inherited neurodegenerative disorder, inherited retinal dystrophy, lactic acidosis, maternally-inherited Leigh syndrome, metabolic disease, mitochondrial complex I deficiency, mitochondrial complex IV deficiency, nuclear-type, mitochondrial encephalomyopathy, muscle tissue disorder, musculoskeletal system disorder, nervous system disorder, neurodegenerative disease, neuromuscular disease, ophthalmoplegia, optic atrophy, optic nerve disorder, otorhinolaryngologic disease, palsy, progressive external ophthalmoplegia, progressive myoclonus epilepsy, retinal degeneration, retinal disorder, retinitis pigmentosa, stroke disorder, syndromic disease, vascular disorderRecruitingNot stated2026-02-04NCT01694940
Study of N-acetylcysteine in the Treatment of Patients With the m.3243A>G Mutation and Low Brain Glutathione LevelsBrain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cerebral Small Vessel Diseases, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Deafness, Ear Diseases, MELAS syndrome, Neurologic Manifestations, Nutritional and Metabolic Diseases, Pathological Conditions, Signs and Symptoms, Sensation Disorders, Signs and Symptoms, brain disorder, cardiovascular disorder, central nervous system disorder, cerebrovascular disorder, diabetes mellitus, endocrine system disorder, glucose metabolism disease, hearing disorder, hearing loss disorder, hereditary disease, inborn errors of metabolism, inborn mitochondrial metabolism disorder, inborn mitochondrial myopathy, metabolic disease, mitochondrial encephalomyopathy, muscle tissue disorder, musculoskeletal system disorder, nervous system disorder, neuromuscular disease, otorhinolaryngologic disease, vascular disorderRecruitingPhase 12026-01-23NCT05241262
Natural History Study - Mitochondrial DiseaseBrain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cerebral Small Vessel Diseases, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, MELAS syndrome, Nutritional and Metabolic Diseases, brain disorder, cardiovascular disorder, central nervous system disorder, cerebrovascular disorder, hereditary disease, inborn errors of metabolism, inborn mitochondrial metabolism disorder, inborn mitochondrial myopathy, metabolic disease, mitochondrial encephalomyopathy, muscle tissue disorder, musculoskeletal system disorder, nervous system disorder, neuromuscular disease, vascular disorderRecruitingNot stated2026-01-23NCT01532791
Tissue Sample Study for Mitochondrial DisordersBrain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cerebral Small Vessel Diseases, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Leber hereditary optic neuropathy, Leigh syndrome, MELAS syndrome, Nutritional and Metabolic Diseases, Pyruvate Metabolism, Inborn Errors, brain disorder, cardiovascular disorder, central nervous system disorder, cerebrovascular disorder, hereditary disease, inborn carbohydrate metabolic disorder, inborn errors of metabolism, inborn mitochondrial metabolism disorder, inborn mitochondrial myopathy, metabolic disease, mitochondrial encephalomyopathy, mitochondrial neurogastrointestinal encephalomyopathy, muscle tissue disorder, musculoskeletal system disorder, nervous system disorder, neuromuscular disease, vascular disorderEnrolling by invitationNot stated2026-01-07NCT01803906
Effectiveness of Ketogenic Diet in MELAS SyndromeBrain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cerebral Small Vessel Diseases, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, MELAS syndrome, Nutritional and Metabolic Diseases, brain disorder, cardiovascular disorder, central nervous system disorder, cerebrovascular disorder, hereditary disease, inborn errors of metabolism, inborn mitochondrial metabolism disorder, inborn mitochondrial myopathy, metabolic disease, mitochondrial encephalomyopathy, muscle tissue disorder, musculoskeletal system disorder, nervous system disorder, neuromuscular disease, vascular disorderNot yet recruitingNot applicable2023-08-28NCT06013397