Disease Directory Oculopharyngodistal myopathy
Neuromuscular

Oculopharyngodistal myopathy

Type

Disease

Gene

NOTCH2NLC, LRP12, GIPC1, ABCD3, NUTM2B-AS1, RILPL1

About Oculopharyngodistal myopathy

Oculopharyngodistal myopathy is a rare disease catalogued by Orphanet (ORPHA:98897). It is associated with the NOTCH2NLC, LRP12, GIPC1 genes. 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 Oculopharyngodistal myopathy trials.

Search ClinicalTrials.gov for "Oculopharyngodistal myopathy" or filter by Orphanet code ORPHA:98897 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:98897)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Oculopharyngodistal myopathy trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Oculopharyngodistal myopathy. Updated daily.