About MELAS Syndrome
MELAS syndrome is a maternally inherited mitochondrial disorder characterised by stroke-like episodes, encephalopathy, lactic acidosis, and a range of systemic manifestations including myopathy and diabetes. The most common causative variant is m.3243A>G in the MT-TL1 gene, which impairs mitochondrial protein synthesis globally. The stroke-like episodes are distinct from ischaemic stroke and are thought to result from impaired mitochondrial energy production in neurons rather than vascular occlusion.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to MELAS Syndrome trials.
Mutation heteroplasmy level in blood or urine can influence eligibility; some trials require a minimum heteroplasmy percentage confirmed by next-generation sequencing.
Acute stroke-like episodes may disqualify enrolment during the active event; apply during a clinically stable inter-episode period.
Baseline plasma lactate, brain MRI, and audiological assessments are standard pre-screening requirements; ensure results are current.
Patient Resources
Natural History Registry
North American Mitochondrial Disease Consortium (NAMDC) Registry
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