Disease Directory Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
Neurological

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

Type

Disease

Gene

MSTO1

About Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome is a rare disease catalogued by Orphanet (ORPHA:502423). It is associated with the MSTO1 gene. Search below for active recruiting clinical trials from ClinicalTrials.gov, or visit the Orphanet expert page for specialist centres, natural history studies, and patient registries.

Clinical Trial Eligibility Tips

What to know before applying to Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome trials.

Search ClinicalTrials.gov for "Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome" or filter by Orphanet code ORPHA:502423 to find disease-specific studies.

Ask your specialist to refer you to a Centre of Expertise — Orphanet lists all accredited centres for this condition worldwide.

Natural history studies and patient registries often enrol before drug trials open — contact the Orphanet patient community first.

Patient Resources

Patient Organization

Orphanet

Visit website ↗

Orphanet

European reference resource for rare diseases (ORPHA:502423)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome. Updated daily.