inborn mitochondrial metabolism disorder
inborn mitochondrial metabolism disorder
Explore linked clinical trials. Standard reference: MONDO:0004069121 results · Page 1 of 5
Clinical trials
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| Trial | Conditions | Status | Phase | Updated | More info | NCT ID |
|---|---|---|---|---|---|---|
| A Study to Investigate the Safety, Tolerability, and Pharmacokinetics of ATI-105 in Healthy Adults | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Friedreich ataxia, Mitochondrial Dysfunction, Nutritional and Metabolic Diseases, Spinocerebellar Degenerations, brain disorder, cardiomyopathy, cardiovascular disorder, central nervous system disorder, cerebellar disorder, heart disorder, hereditary disease, inborn mitochondrial metabolism disorder, inherited neurodegenerative disorder, metabolic disease, nervous system disorder, neurodegenerative disease, neuromuscular disease, spinal cord disorder | Not yet recruiting | Phase 1 | 2026-10-09 | NCT07869654 | |
| Natural History and Genotype-Phenotype Correlations in Mitochondrial Leukoencephalopathies | Leukoencephalopathies, Nutritional and Metabolic Diseases, brain disorder, central nervous system disorder, inborn mitochondrial metabolism disorder, metabolic disease, nervous system disorder | Recruiting | Not stated | 2026-10-09 | NCT07868796 | |
| A Study to Evaluate the Efficacy and Safety of Subcutaneous Nomlabofusp in Subjects With Friedreich's Ataxia | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Friedreich ataxia, Nutritional and Metabolic Diseases, Spinocerebellar Degenerations, brain disorder, central nervous system disorder, cerebellar disorder, hereditary disease, inborn mitochondrial metabolism disorder, inherited neurodegenerative disorder, metabolic disease, nervous system disorder, neurodegenerative disease, spinal cord disorder | Recruiting | Phase 3 | 2026-10-09 | NCT07778836 | |
| An Open-Label Study of CTI-1601 in Subjects With Friedreich's Ataxia | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Friedreich ataxia, Nutritional and Metabolic Diseases, Spinocerebellar Degenerations, brain disorder, central nervous system disorder, cerebellar disorder, hereditary disease, inborn mitochondrial metabolism disorder, inherited neurodegenerative disorder, metabolic disease, nervous system disorder, neurodegenerative disease, spinal cord disorder | Recruiting | Phase 2 | 2026-10-09 | NCT06447025 | |
| 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 | |
| Biomarkers in Friedreich's Ataxia | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Dyskinesias, Friedreich ataxia, Neurologic Manifestations, Nutritional and Metabolic Diseases, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, Spinocerebellar Degenerations, atactic disorder, non-human animal, brain disorder, central nervous system disorder, cerebellar disorder, hereditary disease, inborn mitochondrial metabolism disorder, inherited neurodegenerative disorder, metabolic disease, nervous system disorder, neurodegenerative disease, spinal cord disorder | Recruiting | Not stated | 2026-10-06 | NCT02497534 | |
| 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 | |
| Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Pyruvate Dehydrogenase Complex Deficiency Disease, Pyruvate Metabolism, Inborn Errors, X-linked disease, brain disorder, central nervous system disorder, hereditary disease, inborn carbohydrate metabolic disorder, inborn errors of metabolism, inborn mitochondrial metabolism disorder, inherited neurodegenerative disorder, intellectual disability, metabolic disease, nervous system disorder | Recruiting | Not stated | 2026-10-05 | NCT03056794 | |
| The Precision Mito- Mito Map COMPASS Study | Bacterial Infections and Mycoses, Borrelia infectious disease, Chronic Disease, Disease Attributes, Fatigue, Infections, Lyme disease, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Post-Infectious Disorders, Signs and Symptoms, autonomic nervous system disorder, bacterial infectious disease, fibromyalgia, gram-negative bacterial infections, inborn mitochondrial metabolism disorder, metabolic disease, muscle tissue disorder, musculoskeletal system disorder, nervous system disorder, neuromuscular disease, orthostatic intolerance, post-treatment Lyme disease syndrome, primary dysautonomia, rheumatic disorder, spirochaetales infections, tick-borne infectious disease, vector-borne disease | Not yet recruiting | Not stated | 2026-10-02 | NCT07856121 | |
| A Study to Learn More About the Effects and Long-Term Safety of Omaveloxolone (BIIB141) in Children and Teens With Friedreich's Ataxia | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Friedreich ataxia, Nutritional and Metabolic Diseases, Spinocerebellar Degenerations, brain disorder, central nervous system disorder, cerebellar disorder, hereditary disease, inborn mitochondrial metabolism disorder, inherited neurodegenerative disorder, metabolic disease, nervous system disorder, neurodegenerative disease, spinal cord disorder | Active, not recruiting | Phase 3 | 2026-10-02 | NCT06953583 | |
| The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Leigh syndrome, Nutritional and Metabolic Diseases, Oxidative Phosphorylation Deficiencies, Pyruvate Metabolism, Inborn Errors, brain disorder, central nervous system disorder, hereditary disease, inborn carbohydrate metabolic disorder, inborn errors of metabolism, inborn mitochondrial metabolism disorder, metabolic disease, nervous system disorder | Recruiting | Not stated | 2026-10-02 | NCT01780168 | |
| A Study of SGT-212 Gene Therapy in Friedreich's Ataxia | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Dyskinesias, Friedreich ataxia, Neurologic Manifestations, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, Signs and Symptoms, Spinocerebellar Degenerations, atactic disorder, non-human animal, brain disorder, central nervous system disorder, cerebellar disorder, hereditary disease, inborn mitochondrial metabolism disorder, inherited neurodegenerative disorder, metabolic disease, movement disorder, nervous system disorder, neurodegenerative disease, spinal cord disorder | Recruiting | Phase 1 | 2026-09-29 | NCT07180355 | |
| Phase IA and IB Study of AAVrh.10hFXN Gene Therapy for the Cardiomyopathy of Friedreich's Ataxia | Cardiac Hypertrophy, Cardiomegaly, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Dyskinesias, Friedreich ataxia, Hypertrophy, Neurologic Manifestations, Nutritional and Metabolic Diseases, Pathological Conditions, Anatomical, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, Spinocerebellar Degenerations, atactic disorder, non-human animal, brain disorder, cardiomyopathy, cardiovascular disorder, central nervous system disorder, cerebellar disorder, heart disorder, hereditary disease, inborn mitochondrial metabolism disorder, inherited neurodegenerative disorder, metabolic disease, nervous system disorder, neurodegenerative disease, spinal cord disorder | Recruiting | Phase 1 | 2026-09-28 | NCT05302271 | |
| Cardiac Output and Fatigue in Friedreich's Ataxia | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Fatigue, Friedreich ataxia, Nutritional and Metabolic Diseases, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, Spinocerebellar Degenerations, brain disorder, central nervous system disorder, cerebellar disorder, hereditary disease, inborn mitochondrial metabolism disorder, inherited neurodegenerative disorder, metabolic disease, nervous system disorder, neurodegenerative disease, spinal cord disorder | Recruiting | Not applicable | 2026-09-22 | NCT07444333 | |
| Metabolic and Functional Study of γδ T Cells in Critically Ill Patients | Critical Illness, Disease Attributes, Dysbiosis, Infections, Inflammation, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Sepsis, Shock, Systemic Inflammatory Response Syndrome, inborn mitochondrial metabolism disorder, metabolic disease, multiple organ dysfunction syndrome | Recruiting | Not stated | 2026-09-17 | NCT07680816 | |
| 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 | |
| SAD of IVT PYC-001 in OPA1 Mutation-Associated Autosomal Dominant Optic Atrophy (Sundew) | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Eye Diseases, Hereditary, Nutritional and Metabolic Diseases, Optic Atrophy, Autosomal Dominant, cranial nerve neuropathy, eye disorder, hereditary disease, hereditary optic atrophy, inborn mitochondrial metabolism disorder, inherited neurodegenerative disorder, metabolic disease, nervous system disorder, neurodegenerative disease, optic atrophy, optic nerve disorder | Active, not recruiting | Phase 1 | 2026-09-17 | NCT06461286 | |
| 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 | |
| Natural History of MADD | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, hereditary disease, inborn disorder of amino acid metabolism, inborn errors of metabolism, inborn mitochondrial metabolism disorder, metabolic disease, multiple acyl-CoA dehydrogenase deficiency | Recruiting | Not stated | 2026-09-16 | NCT07734090 | |
| Open Label Extension to Assess Long Term Safety and Efficacy of KL1333 in Patients With Primary Mitochondrial Disease | Nutritional and Metabolic Diseases, inborn mitochondrial metabolism disorder, metabolic disease | Recruiting | Phase 2 | 2026-09-16 | NCT07514338 | |
| 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 | |
| Acute Infection in Mitochondrial Disease: Metabolism, Infection and Immunity | Infections, Nutritional and Metabolic Diseases, inborn mitochondrial metabolism disorder, metabolic disease, viral infectious disease | Recruiting | Not stated | 2026-09-10 | NCT04419870 | |
| New Non-invasive Modalities for Assessing Retinal Structure and Function | Arterial Occlusive Diseases, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Eye Diseases, Hereditary, Hemianopsia, Leber hereditary optic neuropathy, Neurologic Manifestations, Nutritional and Metabolic Diseases, Optic Neuropathy, Ischemic, Pathological Conditions, Signs and Symptoms, Sensation Disorders, Signs and Symptoms, acute zonal occult outer retinopathy, blindness (disorder), branch retinal artery occlusion, cardiovascular disorder, cranial nerve neuropathy, eye disorder, hereditary disease, hereditary optic atrophy, inborn mitochondrial metabolism disorder, inherited neurodegenerative disorder, metabolic disease, nervous system disorder, neurodegenerative disease, optic atrophy, optic nerve disorder, retinal artery occlusion, retinal disorder, vascular disorder, vision disorder | Recruiting | Not applicable | 2026-09-08 | NCT03475173 | |
| A Study to Find Out How BIIB141 (Omaveloxolone) is Processed in the Body and to Learn More About Its Safety in Participants With Friedreich's Ataxia Aged 2 to 15 Years Old | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Friedreich ataxia, Nutritional and Metabolic Diseases, Spinocerebellar Degenerations, brain disorder, central nervous system disorder, cerebellar disorder, hereditary disease, inborn mitochondrial metabolism disorder, inherited neurodegenerative disorder, metabolic disease, nervous system disorder, neurodegenerative disease, spinal cord disorder | Active, not recruiting | Phase 1 | 2026-09-03 | NCT06054893 | |
| Study of LX2006 Gene Therapy in Friedreich Ataxia Cardiomyopathy | Cardiomegaly, Cardiomyopathies, Secondary, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Friedreich ataxia, Hypertrophy, Hypertrophy, Left Ventricular, Nutritional and Metabolic Diseases, Pathological Conditions, Anatomical, Pathological Conditions, Signs and Symptoms, Spinocerebellar Degenerations, aortic valve disorder, aortic valve stenosis, brain disorder, cardiomyopathy, cardiovascular disorder, central nervous system disorder, cerebellar disorder, heart disorder, heart valve disorder, hereditary disease, hypertrophic cardiomyopathy, inborn mitochondrial metabolism disorder, inherited neurodegenerative disorder, metabolic disease, nervous system disorder, neurodegenerative disease, spinal cord disorder, subvalvular aortic stenosis | Recruiting | Phase 2 | 2026-09-02 | NCT07721025 |