MERRF syndrome
MONDO:0010790A rare mitochondrial oxidative phosphorylation disorder characterized by myoclonic seizures, ataxia, generalized epilepsy, muscle weakness and ragged red fibers in the muscle biopsy.
Also known as: Fukuhara syndrome, MERRF, MERRF syndrome, myoclonic epilepsy - ragged red fibres, myoclonus epilepsy and ragged red fibres, myoclonus epilepsy associated with ragged-red fibers, myoclonus epilepsy associated with ragged-red fibres, myoclonus with epilepsy and with ragged Red fibers (MERRF syndrome)
25 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
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Routine EEGs may hold hidden clues to childhood epilepsy — a new analysis method is put to the test
Diagnosis CompletedThis study is testing whether a computer tool called BioEP can detect signs of seizure susceptibility in standard EEG recordings from children with epilepsy. Researchers will analyze past EEGs from 530 children aged 2 to 18 who already have an epilepsy diagnosis. The goal is to s…
Sponsor: Neuronostics Ltd • Aim: Diagnosis
Last updated Aug 01, 2026 00:00 UTC