Disease Directory Muscle-eye-brain disease
Rare Disease

Muscle-eye-brain disease

Type

Malformation syndrome

Gene

CRPPA, LARGE1, POMGNT1, POMT1, POMT2, FKTN

About Muscle-eye-brain disease

Muscle-eye-brain disease is a rare disease catalogued by Orphanet (ORPHA:588). It is associated with the CRPPA, LARGE1, POMGNT1 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 Muscle-eye-brain disease trials.

Search ClinicalTrials.gov for "Muscle-eye-brain disease" or filter by Orphanet code ORPHA:588 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:588)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Muscle-eye-brain disease trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Muscle-eye-brain disease. Updated daily.