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TrialConditionsStatusPhaseUpdatedMore infoNCT ID
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
CoQ10 Effects on MDM Liver Fat Via FibroTouchI.maternally-inherited diabetes and deafnessNot yet recruitingNot applicable2026-08-05NCT07748130
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
Monogenic Diabetes Misdiagnosed as Type 1Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Deaf-Blind Disorders, Deafness, Ear Diseases, Eye Diseases, Hereditary, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Neurologic Manifestations, Nutritional and Metabolic Diseases, Sensation Disorders, Urogenital Diseases, Wolcott-Rallison syndrome, Wolfram syndrome, autoimmune disease, blindness (disorder), cranial nerve neuropathy, diabetes insipidus, diabetes mellitus, endocrine system disorder, eye disorder, glucose metabolism disease, hearing disorder, hearing loss disorder, hereditary disease, hereditary optic atrophy, immune system disorder, inherited neurodegenerative disorder, kidney disorder, maternally-inherited diabetes and deafness, metabolic disease, monogenic diabetes, nervous system disorder, neurodegenerative disease, optic atrophy, optic nerve disorder, otorhinolaryngologic disease, pituitary gland disorder, type 1 diabetes mellitus, urinary system disorder, vision disorderRecruitingNot stated2024-12-10NCT03988764