Disease Directory Synaptic congenital myasthenic syndrome
Rare Disease

Synaptic congenital myasthenic syndrome

Type

Etiological subtype

Gene

COLQ, LAMB2

About Synaptic congenital myasthenic syndrome

Synaptic congenital myasthenic syndrome is a rare disease catalogued by Orphanet (ORPHA:98915). It is associated with the COLQ, LAMB2 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 Synaptic congenital myasthenic syndrome trials.

Search ClinicalTrials.gov for "Synaptic congenital myasthenic syndrome" or filter by Orphanet code ORPHA:98915 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:98915)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Synaptic congenital myasthenic syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Synaptic congenital myasthenic syndrome. Updated daily.