Mitochondrial DNA depletion syndrome 13
MONDO:0014198Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene.
Also known as: FBXL4 mitochondrial DNA depletion syndrome, mitochondrial DNA depletion syndrome caused by mutation in FBXL4, mitochondrial DNA depletion syndrome type 13, mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies, BXL4-related early-onset mitochondrial encephalopathy, FBXL4 deficiency, FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome, MTDPS13
13 clinical trials for this condition and its sub-types.
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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: PHASE2 • 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: PHASE3 • Sponsor: PTC Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 08:05 UTC