Disease Directory Congenital muscular dystrophy with intellectual disability
Neuromuscular

Congenital muscular dystrophy with intellectual disability

Type

Disease

Gene

POMT1, POMT2, FKRP, LARGE1, GMPPB

About Congenital muscular dystrophy with intellectual disability

Congenital muscular dystrophy with intellectual disability is a rare disease catalogued by Orphanet (ORPHA:370968). It is associated with the POMT1, POMT2, FKRP 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 Congenital muscular dystrophy with intellectual disability trials.

Search ClinicalTrials.gov for "Congenital muscular dystrophy with intellectual disability" or filter by Orphanet code ORPHA:370968 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:370968)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Congenital muscular dystrophy with intellectual disability trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Congenital muscular dystrophy with intellectual disability. Updated daily.