Charcot-Marie-Tooth disease recessive intermediate D
MONDO:0014467Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the COX6A1 gene.
Also known as: CMTRID, COX6A1 Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease caused by mutation in COX6A1, Charcot-Marie-Tooth disease recessive intermediate type D, Charcot-Marie-Tooth disease, recessive Intermediate type D, RI-CMT type D, autosomal recessive intermediate Charcot-Marie-Tooth disease type D, Charcot-Marie-Tooth disease, recessive intermediate D
21 clinical trials for this condition and its sub-types.
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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