Disease Directory Severe congenital nemaline myopathy
Neuromuscular

Severe congenital nemaline myopathy

Type

Disease

Gene

ACTA1, NEB, KLHL40, KLHL41, LMOD3

About Severe congenital nemaline myopathy

Severe congenital nemaline myopathy is a rare disease catalogued by Orphanet (ORPHA:171430). It is associated with the ACTA1, NEB, KLHL40 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 Severe congenital nemaline myopathy trials.

Search ClinicalTrials.gov for "Severe congenital nemaline myopathy" or filter by Orphanet code ORPHA:171430 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:171430)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Severe congenital nemaline myopathy trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Severe congenital nemaline myopathy. Updated daily.