About MERRF Syndrome
MERRF syndrome is a maternally inherited mitochondrial disorder characterised by myoclonic epilepsy, cerebellar ataxia, myopathy with ragged red fibres on muscle biopsy, and progressive neurological deterioration. The most common causative mutation is m.8344A>G in MT-TK, which encodes mitochondrial tRNA-Lys and disrupts oxidative phosphorylation. The clinical spectrum is broad, ranging from mild myoclonus to severe multisystem disease, influenced by mutation heteroplasmy levels across tissues.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to MERRF Syndrome trials.
Muscle biopsy showing ragged red fibres and/or confirmed MT-TK mutation is the primary diagnostic requirement for most MERRF studies; ensure pathology reports are available.
Heteroplasmy levels in muscle tissue are more informative than blood for this disorder; request tissue-specific genetic testing if blood results are inconclusive.
Anti-epileptic drug regimens may interact with investigational agents; provide a complete medication list including valproate, which is often contraindicated in mitochondrial disease.
Patient Resources
Natural History Registry
North American Mitochondrial Disease Consortium (NAMDC) Registry
Join registry ↗Find recruiting MERRF Syndrome trials
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