Mitochondrial disease
MONDO:0044970132 clinical trials for this condition and its sub-types, 40 tagged with Mitochondrial disease itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Mitochondrial disease
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Inborn mitochondrial metabolism disorder 59 trials · 127 incl. sub-types
14 sub-types
- Mitochondrial oxidative phosphorylation disorder 3 trials · 58 incl. sub-types Sub-types →
- Inborn mitochondrial myopathy 18 trials · 45 incl. sub-types Sub-types →
- Pyruvate dehydrogenase deficiency 2 trials · 4 incl. sub-types Sub-types →
- Histiocytoid cardiomyopathy 3 trials Sub-types →
- Fumaric aciduria 2 trials
- OPA1-related optic atrophy with or without extraocular features 1 trial Sub-types →
- Inherited lipoic acid biosynthesis defect 0 trials · 1 incl. sub-types Sub-types →
- Multiple acyl-CoA dehydrogenase deficiency 1 trial Sub-types →
- 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 0 trials
- HSD10 mitochondrial disease 0 trials Sub-types →
- Hypotonia-cystinuria syndrome 0 trials Sub-types →
- Mitochondrial membrane transport disorder 0 trials Sub-types →
- Mitochondrial pyruvate carrier deficiency 0 trials
- Oxoglutaricaciduria 0 trials
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1 sub-type
- Optic atrophy 9 0 trials
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Bjornstad syndrome 0 trials
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GRACILE syndrome 0 trials
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4 sub-types
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 0 trials
- Optic atrophy 8 0 trials
- Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 0 trials
- Optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant 0 trials
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Ethylmalonic encephalopathy 0 trials
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Pure mitochondrial myopathy 0 trials
Most studied deeper sub-types
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Could a High-Fat diet help kids with rare energy disorder?
Disease control CompletedThis study looked at whether a high-fat diet changes how children with mitochondrial disease burn energy. 36 children aged 5 to 21 were randomly assigned to eat either a normal or high-fat diet for a month, then switched. Researchers measured their resting energy use and body com…
Sponsor: University Hospital, Lille • Aim: Disease control
Last updated Jun 27, 2026 12:23 UTC
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New drug shows promise for rare energy disorder
Disease control CompletedThis study tested a new drug called OMT-28 in 28 people with primary mitochondrial disease, a condition that affects how cells produce energy. Participants took the drug once daily for 6 months, and researchers measured safety, blood markers of inflammation, and symptoms like fat…
Phase 2 • Sponsor: Omeicos Therapeutics GmbH • Aim: Disease control
Last updated Jun 27, 2026 08:13 UTC
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Long-Term safety of mitochondrial drug confirmed in 101 patients
Disease control CompletedThis study looked at the safety of vatiquinone in 101 people with inherited mitochondrial disease who had already taken the drug in a previous study or treatment plan. The goal was to track any side effects until the drug became commercially available or the program ended. Partic…
Phase 3 • Sponsor: PTC Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 08:05 UTC
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New drug aims to help mitochondrial disease patients walk farther
Disease control CompletedThis Phase 3 trial tested a daily injection called elamipretide in 102 adults with primary mitochondrial myopathy, a genetic condition that causes muscle weakness and fatigue. Participants received either the drug or a placebo for 48 weeks. The main goal was to see if the drug co…
Phase 3 • Sponsor: Stealth BioTherapeutics Inc. • Aim: Disease control
Last updated Jun 27, 2026 07:55 UTC
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Tech-Supported home exercise shows promise for mitochondrial disease
Symptom relief CompletedThis study tested whether a home exercise program, supported by a smartwatch and weekly coaching, is practical and acceptable for people with mitochondrial disease. Ten participants followed an 8-week program with remote monitoring. The goal was to see if people would stick with …
Sponsor: Neuroscience Research Australia • Aim: Symptom relief
Last updated Jun 27, 2026 12:10 UTC
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Study explores how family and friends impact caregiver health
Knowledge-focused CompletedThis completed study looked at how the social networks of caregivers affect their stress and health when caring for someone with an inherited disease. Researchers surveyed over 680 participants, including family members and formal caregivers, to understand caregiving burden and s…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Sep 18, 2026 00:00 UTC
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Metformin's Anti-Aging effects may depend on your insulin sensitivity
Knowledge-focused CompletedThis study looked at whether the diabetes drug metformin can slow aging in people without diabetes. Researchers wanted to see if the drug's effects depend on whether a person is insulin sensitive or insulin resistant. Over 12 weeks, 101 adults aged 40-75 took either metformin or …
Phase 3 • Sponsor: Oklahoma Medical Research Foundation • Aim: Knowledge-focused
Last updated Jul 04, 2026 00:00 UTC
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Could hidden nerve damage explain pain in kids with developmental delays?
Knowledge-focused CompletedThis completed study looked at whether children with neurodevelopmental disorders (like mitochondrial disease, cerebral palsy, or developmental delay) have fewer small nerve fibers in their skin, which could cause pain. Researchers took small skin biopsies from 203 children—some …
Sponsor: Heinrich-Heine University, Duesseldorf • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:00 UTC