inborn mitochondrial myopathy
inborn mitochondrial myopathy
Explore linked clinical trials. Standard reference: MONDO:000963723 results · Page 1 of 1
Clinical trials
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| Trial | Conditions | Status | Phase | Updated | More info | NCT ID |
|---|---|---|---|---|---|---|
| Validation of Nanosensor Oxygen Measurement | Nutritional and Metabolic Diseases, inborn mitochondrial metabolism disorder, inborn mitochondrial myopathy, metabolic disease, muscle tissue disorder, musculoskeletal system disorder, nervous system disorder, neuromuscular disease | Recruiting | Phase 1 | 2026-10-07 | NCT06819683 | |
| 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 epilepsy | Not yet recruiting | Phase 1 / Phase 2 | 2026-10-05 | NCT06792500 | |
| Doxecitin and Doxribthymine in Adult Subjects With Thymidine Kinase 2 (TK2) Deficiency | Nutritional and Metabolic Diseases, inborn mitochondrial metabolism disorder, inborn mitochondrial myopathy, metabolic disease, muscle tissue disorder, musculoskeletal system disorder, nervous system disorder, neuromuscular disease | Recruiting | Phase 2 | 2026-09-17 | NCT06754098 | |
| Natural History Study of Mitochondrial Myopathy | Fatigue, Muscle Weakness, Neurologic Manifestations, Neuromuscular Manifestations, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, inborn mitochondrial metabolism disorder, inborn mitochondrial myopathy, metabolic disease, muscle tissue disorder, musculoskeletal system disorder, nervous system disorder, neuromuscular disease | Recruiting | Not stated | 2026-09-17 | NCT05250375 | |
| Prospective Natural History Study of POLG Disease | Chronic 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 epilepsy | Recruiting | Not stated | 2026-09-15 | NCT07775872 | |
| Global Registry and Natural History Study for Mitochondrial Disorders | Abnormalities, 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 deficiency | Recruiting | Not stated | 2026-08-07 | NCT05554835 | |
| 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 disorder | Active, not recruiting | Phase 2 | 2026-07-07 | NCT06961344 | |
| KHENERFIN Study: A Trial to Evaluate the Efficacy and Safety of Sonlicromanol in Primary Mitochondrial Diseases | Brain 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 disorder | Recruiting | Phase 3 | 2026-06-29 | NCT06451757 | |
| Home Based Personalized Training and Video Consultation in Mitochondrial Myopathies: Study of Efficacy and Tolerance. | Nutritional and Metabolic Diseases, inborn mitochondrial metabolism disorder, inborn mitochondrial myopathy, metabolic disease, muscle tissue disorder, musculoskeletal system disorder, nervous system disorder, neuromuscular disease | Recruiting | Not applicable | 2026-06-24 | NCT05346627 | |
| Inherited Retinal Degenerative Disease Registry | Abnormalities, 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 dystrophy | Recruiting | Not stated | 2026-05-19 | NCT02435940 | |
| Patterns of Neurodevelopmental Disorders | Abnormalities, Multiple, Brain Diseases, Metabolic, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Down syndrome, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, PANDAS, autism spectrum disorder, brain disorder, central nervous system disorder, cerebral folate deficiency, chromosomal disorder, epilepsy, hereditary disease, inborn mitochondrial metabolism disorder, inborn mitochondrial myopathy, intellectual disability, metabolic disease, mitochondrial encephalomyopathy, muscle tissue disorder, musculoskeletal system disorder, nervous system disorder, neurodegenerative syndrome due to cerebral folate transport deficiency, neurodevelopmental disorder, neuromuscular disease, pediatric acute-onset neuropsychiatric syndrome, pervasive developmental disorder, psychiatric disorder | Recruiting | Not stated | 2026-04-16 | NCT06213090 | |
| Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Charcot-Marie-Tooth disease, Chronic Disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Infections, Lambert-Eaton myasthenic syndrome, Lysosomal Storage Diseases, Nervous System, Muscular Disorders, Atrophic, Neoplasms by Site, Neuroinflammatory Diseases, Nutritional and Metabolic Diseases, Paraneoplastic Syndromes, Nervous System, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Picornaviridae infectious disease, RNA Virus Infections, TDP-43 proteinopathy, amyotrophic lateral sclerosis, autoimmune disease, autoimmune disorder of the nervous system, autonomic nervous system disorder, brain disorder, central nervous system disorder, central nervous system infectious disorder, central nervous system malformation, centronuclear myopathy, chronic inflammatory demyelinating polyradiculoneuropathy, congenital structural myopathy, demyelinating disease, disorder of glycogen metabolism, enterovirus infectious disease, facioscapulohumeral muscular dystrophy, glycogen storage disease II, hereditary disease, hereditary motor and sensory neuropathy, hereditary spastic paraplegia, immune system disorder, inborn carbohydrate metabolic disorder, inborn errors of metabolism, inborn mitochondrial metabolism disorder, inborn mitochondrial myopathy, inclusion body myositis, inherited neurodegenerative disorder, lateral sclerosis, lysosomal storage disease, metabolic disease, motor neuron disorder, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, myasthenia gravis, myelitis, myositis disease, nemaline myopathy, neoplasm, nervous system disorder, neurodegenerative disease, neuromuscular disease, neuromuscular junction disease, orthostatic intolerance, paraneoplastic syndrome, peripheral nervous system disorder, poliomyelitis, polyneuropathy, polyradiculoneuropathy, postpoliomyelitis syndrome, primary dysautonomia, progressive muscular atrophy, proteostasis deficiencies, spinal cord disorder, spinal muscular atrophy, viral infectious disease | Recruiting | Not applicable | 2026-03-17 | NCT07478172 | |
| Exercise Training Effects on Muscle Function in Adults With Mitochondrial Myopathy | Nutritional and Metabolic Diseases, inborn mitochondrial metabolism disorder, inborn mitochondrial myopathy, metabolic disease, muscle tissue disorder, musculoskeletal system disorder, nervous system disorder, neuromuscular disease | Recruiting | Not applicable | 2026-03-05 | NCT07450690 | |
| Validation of Oxygen Nanosensor in Mitochondrial Myopathy | Nutritional and Metabolic Diseases, inborn mitochondrial metabolism disorder, inborn mitochondrial myopathy, metabolic disease, muscle tissue disorder, musculoskeletal system disorder, nervous system disorder, neuromuscular disease | Recruiting | Phase 1 | 2026-02-18 | NCT04086329 | |
| 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 disorder | Recruiting | Not stated | 2026-02-04 | NCT01694940 | |
| A Study to Evaluate Vitamin B3 Derivative to Treat Mitochondrial Myopathy | Nutritional and Metabolic Diseases, inborn mitochondrial metabolism disorder, inborn mitochondrial myopathy, metabolic disease, muscle tissue disorder, musculoskeletal system disorder, nervous system disorder, neuromuscular disease | Active, not recruiting | Phase 2 | 2026-01-26 | NCT05590468 | |
| Study of N-acetylcysteine in the Treatment of Patients With the m.3243A>G Mutation and Low Brain Glutathione Levels | Brain 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 disorder | Recruiting | Phase 1 | 2026-01-23 | NCT05241262 | |
| Natural History Study - Mitochondrial Disease | Brain 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 disorder | Recruiting | Not stated | 2026-01-23 | NCT01532791 | |
| Tissue Sample Study for Mitochondrial Disorders | Brain 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 disorder | Enrolling by invitation | Not stated | 2026-01-07 | NCT01803906 | |
| Applying pGz in Mitochondrial Disease | Nutritional and Metabolic Diseases, inborn mitochondrial metabolism disorder, inborn mitochondrial myopathy, metabolic disease, muscle tissue disorder, musculoskeletal system disorder, nervous system disorder, neuromuscular disease | Recruiting | Phase 1 | 2025-11-10 | NCT05569122 | |
| Deoxynucleosides Pyrimidines as Treatment for Mitochondrial Depletion Syndrome | Brain Diseases, Metabolic, Mitochondrial encephalopathy, Nutritional and Metabolic Diseases, brain disorder, central nervous system disorder, inborn mitochondrial metabolism disorder, inborn mitochondrial myopathy, metabolic disease, mitochondrial encephalomyopathy, muscle tissue disorder, musculoskeletal system disorder, nervous system disorder, neuromuscular disease | Recruiting | Phase 2 | 2025-05-31 | NCT04802707 | |
| Natural History Study of Patients with HPDL Mutations | Brain Diseases, Metabolic, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Leukoencephalopathies, Neurologic Manifestations, Nutritional and Metabolic Diseases, Paraplegia, Spastic, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, brain disorder, central nervous system disorder, central nervous system malformation, hereditary disease, hereditary motor and sensory neuropathy, hereditary spastic paraplegia, inborn mitochondrial metabolism disorder, inborn mitochondrial myopathy, inherited neurodegenerative disorder, metabolic disease, mitochondrial encephalomyopathy, muscle tissue disorder, musculoskeletal system disorder, nervous system disorder, neurodegenerative disease, neuromuscular disease, palsy, paraplegia, peripheral nervous system disorder, polyneuropathy | Recruiting | Not stated | 2025-03-30 | NCT05848271 | |
| Effectiveness of Ketogenic Diet in MELAS Syndrome | Brain 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 disorder | Not yet recruiting | Not applicable | 2023-08-28 | NCT06013397 |