RecruitingNCT05554835
Mitochondrial
NARP Syndrome
Also known as neurogenic weakness ataxia retinitis pigmentosa, MT-ATP6 T8993G
NARP syndrome is a maternally inherited mitochondrial disorder caused by pathogenic variants, most commonly m.
ORPHA:644 ↗Gene MT-ATP6 (mtDNA)Prevalence Rare; exact prevalence unknown, fewer than 1 in 500,000 estimatedOnset Childhood to early adulthood
3
studies recruiting now
as of 7 Sept 2026
4
studies registered in total
as of 7 Sept 2026
6
countries with a recruiting site
as of 7 Sept 2026
26 Sept 2022
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT01694940
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
RecruitingNCT01793168
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Showing the 3 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
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Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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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
Retinitis pigmentosa and visual deteriorationCerebellar ataxiaNeurogenic muscle weaknessSensory neuropathySeizuresCognitive impairmentSensorineural hearing loss
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for NARP Syndrome. Not eligibility rules; those are set by each study.
- 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.
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).