ACO2-related optic atrophy with or without extraocular features
MONDO:1060120An optic atrophy in which the cause of the disease is monoallelic or biallelic variants in the ACO2 gene. ACO2 is a mitochondrial protein and thus, in addition to the optic atrophy features, features of this disease include abnormal mitochondrial morphology and can affect other organ systems. Extraocular features can include ataxia, spastic paraplegia, CNS abnormalities, neurodevelopmental phenotypes, and retinal degeneration.
Also known as: ACO2-related optic atrophy with or without extraocular features, optic atrophy 9, infantile cerebellar-retinal degeneration
30 clinical trials for this condition and its sub-types.
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Broader categories
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New drug aims to tame hard-to-control seizures in rare mitochondrial disorders
Disease control TerminatedThis study tested a drug called vatiquinone in 68 people with mitochondrial disease and epilepsy that doesn't respond to standard treatments. Participants were randomly assigned to receive either vatiquinone or a placebo for 24 weeks to see if the drug could reduce the number of …
Phase: PHASE2, PHASE3 • Sponsor: PTC Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 12:03 UTC
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VR headsets tested as a possible treatment for blindness
Disease control TerminatedThis study tested whether using a virtual reality headset for one-hour sessions could help regenerate damaged optic nerves and improve vision in people with glaucoma or other retinal diseases. The idea came from promising results in rodents. However, the trial was terminated earl…
Phase: NA • Sponsor: Stanford University • Aim: Disease control
Last updated Jun 27, 2026 08:03 UTC