Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
MONDO:0012791Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA.
Also known as: booth-Haworth-Dilling syndrome, mitochondrial DNA depletion syndrome 5, mitochondrial DNA depletion syndrome type 5, mitochondrial encephalomyopathy-aminoacidopathy syndrome, mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria, MTDPS5, encephalomyopathy, mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
13 clinical trials for this condition and its sub-types, 0 tagged with Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria itself.
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New drug shows promise for rare energy disorder
Disease control CompletedThis study tested a new drug called OMT-28 in 28 people with primary mitochondrial disease, a condition that affects how cells produce energy. Participants took the drug once daily for 6 months, and researchers measured safety, blood markers of inflammation, and symptoms like fat…
Phase 2 • Sponsor: Omeicos Therapeutics GmbH • Aim: Disease control
Last updated Jun 27, 2026 08:13 UTC
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Long-Term safety of mitochondrial drug confirmed in 101 patients
Disease control CompletedThis study looked at the safety of vatiquinone in 101 people with inherited mitochondrial disease who had already taken the drug in a previous study or treatment plan. The goal was to track any side effects until the drug became commercially available or the program ended. Partic…
Phase 3 • Sponsor: PTC Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 08:05 UTC