Coenzyme Q10 deficiency, primary, 3
MONDO:0013838Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the PDSS2 gene.
Also known as: PDSS2 coenzyme Q10 deficiency, coenzyme Q10 deficiency caused by mutation in PDSS2, coenzyme Q10 deficiency, primary, 3, coenzyme Q10 deficiency, primary, type 3, COQ10D3
19 clinical trials for this condition and its sub-types, 0 tagged with Coenzyme Q10 deficiency, primary, 3 itself.
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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
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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