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 vitamin B3 save sight in rare genetic blindness?
Disease control Not yet recruitingThis early study tests whether high-dose vitamin B3 (nicotinamide) can help preserve or improve vision in people with Leber's hereditary optic neuropathy (LHON), a rare genetic disease that causes sudden vision loss. Researchers will give 13 participants 2 grams of vitamin B3 dai…
Phase 1 • Sponsor: University Hospital, Angers • Aim: Disease control
Last updated Jun 27, 2026 08:05 UTC
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New DNA test could end years of uncertainty for mitochondrial disease patients
Diagnosis Not yet recruitingThis pilot study aims to develop a new digital PCR technique to more accurately diagnose mitochondrial diseases. Researchers will test the method on blood, urine, saliva, and muscle fiber samples from 4 patients. If validated, the technique could be faster and cheaper than curren…
Sponsor: Centre Hospitalier Universitaire de Nice • Aim: Diagnosis
Last updated Jun 27, 2026 12:04 UTC