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
85 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 TerminatedThis 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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Scientists gather leftover surgical tissue to unlock secrets of bone disease
Knowledge-focused TerminatedThis study collected bone, cartilage, skin, and fat tissue from 50 patients undergoing surgery at Children's National Medical Center. The goal was to grow cells from these tissues in the lab and analyze them to better understand bone and connective tissue diseases. The study was …
Sponsor: National Institute of Dental and Craniofacial Research (NIDCR) • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:52 UTC