About NARP Syndrome
NARP syndrome is a maternally inherited mitochondrial disorder caused by pathogenic variants, most commonly m.8993T>G or m.8993T>C, in the MT-ATP6 gene encoding subunit 6 of mitochondrial ATP synthase. Clinical features include neurogenic muscle weakness, ataxia, and retinitis pigmentosa, and the severity of the phenotype correlates with the level of heteroplasmy. High heteroplasmy levels (above ~90%) typically result in the more severe Leigh syndrome phenotype, while lower levels produce the NARP phenotype.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to NARP Syndrome trials.
Heteroplasmy level at m.8993 directly correlates with disease severity and is a critical eligibility variable; request quantitative next-generation sequencing in blood and if possible urine.
Ophthalmological assessment confirming retinitis pigmentosa is often required for enrolment; ensure a recent ERG and fundus examination are documented.
NARP and Leigh syndrome share the same genetic locus; confirm phenotypic classification with your neurologist to ensure application to the appropriate trial.
Patient Resources
Natural History Registry
North American Mitochondrial Disease Consortium (NAMDC) Registry
Join registry ↗Find recruiting NARP Syndrome trials
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