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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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…
Phase: NA • Sponsor: Centre Hospitalier Universitaire de Nice • Aim: Diagnosis
Last updated Jun 27, 2026 12:04 UTC
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Could a zapping cap boost memory? small study tests brain stimulation for cognitive decline
Symptom relief Not yet recruitingThis pilot study will test whether a non-invasive brain stimulation technique called transcranial alternating current stimulation (tACS) can improve working memory in 30 adults with mild cognitive impairment or traumatic brain injury. Participants will receive low-level electrica…
Phase: NA • Sponsor: Sunnybrook Health Sciences Centre • Aim: Symptom relief
Last updated Jun 27, 2026 12:28 UTC