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Autosomal recessive ataxia due to ubiquinone deficiency

MONDO:0012784

This syndrome is characterized by childhood-onset progressive ataxia and cerebellar atrophy.

Also known as: ARCA2, SCAR9, autosomal recessive ataxia due to coenzyme Q10 deficiency, autosomal recessive cerebellar ataxia type 2, autosomal recessive spinocerebellar ataxia type 9, coenzyme Q10 deficiency, primary, type 4, COQ10D4, autosomal recessive spinocerebellar ataxia 9

75 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Nervous system disorder (217) Metabolic disease (215) Hereditary disease (172) Neurodegenerative disease (155) Brain disorder (110) Peripheral nervous system disorder (107) Neuromuscular disease (98) Central nervous system disorder (97) Peripheral neuropathy (90)
Trials to join now! 39 Not yet recruiting 8 Not yet finished but already full! 11 Completed 16 Terminated 1
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  • New drug aims to tame hard-to-control seizures in rare mitochondrial disorders

    Disease control Terminated

    This 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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