Autosomal recessive ataxia due to ubiquinone deficiency
MONDO:0012784This 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
37 clinical trials for this condition and its sub-types.
Follow this condition to get notified about new trialsBroader categories
-
New drug aims to tame hard-to-control seizures in rare mitochondrial disorders
Disease control Stopped earlyThis 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 2/3 • Sponsor: PTC Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 12:03 UTC
-
Could a simple blood test track nerve damage? a study investigates NT-3 levels in neuropathy.
Knowledge-focused Stopped earlyThis study measures levels of a protein called NT-3 in the blood of people with peripheral neuropathy or Charcot-Marie-Tooth disease. Researchers will compare these levels with measures of muscle strength, mobility, and daily function. The goal is to see whether NT-3 levels corre…
Sponsor: Zarife Sahenk • Aim: Knowledge-focused
Last updated Jul 31, 2026 00:00 UTC