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TrialConditionsStatusPhaseUpdatedMore infoNCT ID
Prospective Natural History Study of POLG DiseaseChronic Disease, Disease Attributes, Dyskinesias, Neurologic Manifestations, Nutritional and Metabolic Diseases, Ocular Motility Disorders, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, atactic disorder, non-human animal, brain disorder, central nervous system disorder, cranial nerve neuropathy, epilepsy, eye disorder, inborn mitochondrial metabolism disorder, inborn mitochondrial myopathy, metabolic disease, muscle tissue disorder, musculoskeletal system disorder, nervous system disorder, neuromuscular disease, ophthalmoplegia, palsy, progressive external ophthalmoplegia, visual epilepsyRecruitingNot stated2026-09-15NCT07775872
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
Inherited Retinal Degenerative Disease RegistryAbnormalities, Multiple, Bardet-Biedl syndrome, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Charcot-Marie-Tooth disease, Chronic Disease, Ciliopathies, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Deaf-Blind Disorders, Deafness, Disease Attributes, Dyslipidemias, Ear Diseases, Eye Diseases, Hereditary, Goldmann-Favre syndrome, Hearing Loss, Sensorineural, Juvenile Macular Degeneration, Kearns-Sayre syndrome, Leber congenital amaurosis, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Neurologic Manifestations, Neuronal Ceroid-Lipofuscinoses, Nutritional and Metabolic Diseases, Ocular Motility Disorders, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Peroxisomal Disorders, Rod-Cone Dystrophy, Sensation Disorders, Signs and Symptoms, Stargardt disease, Usher syndrome, X-linked disease, abetalipoproteinemia, achromatopsia, achromatopsia 3, adult Refsum disease, blindness (disorder), brain disorder, cardiomyopathy, cardiovascular disorder, central areolar choroidal dystrophy, central nervous system disorder, central nervous system malformation, choroideremia, color vision disorder, cone dystrophy, cone-rod dystrophy, congenital stationary night blindness, cranial nerve neuropathy, enhanced S-cone syndrome, eye disorder, fundus albipunctatus, hearing disorder, hearing loss disorder, heart disorder, hereditary disease, hereditary motor and sensory neuropathy, hypobetalipoproteinemia, hypolipoproteinemia, hypothalamic disorder, inborn errors of metabolism, inborn mitochondrial metabolism disorder, inborn mitochondrial myopathy, inherited neurodegenerative disorder, inherited retinal dystrophy, juvenile neuronal ceroid lipofuscinosis, lysosomal lipid storage disorder, macular degeneration, metabolic disease, muscle tissue disorder, musculoskeletal system disorder, nervous system disorder, neurodegenerative disease, neuromuscular disease, ophthalmoplegia, optic choroid disorder, ornithine aminotransferase deficiency, otorhinolaryngologic disease, palsy, peripheral nervous system disorder, polyneuropathy, progressive external ophthalmoplegia, retinal degeneration, retinal disorder, retinitis pigmentosa, retinitis punctata albescens, retinoschisis, uveal disorder, vision disorder, vitelliform macular dystrophyRecruitingNot stated2026-05-19NCT02435940
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