Mitochondrial DNA depletion syndrome 8a
MONDO:0012792Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene.
Also known as: RRM2B mitochondrial DNA depletion syndrome, mitochondrial DNA depletion syndrome caused by mutation in RRM2B, mitochondrial DNA depletion syndrome type 8a, mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy, MTDPS8A, Mngie, Rrm2B-related, RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic type with renal tubulopathy
24 clinical trials for this condition and its sub-types, 0 tagged with Mitochondrial DNA depletion syndrome 8a 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