Disease Directory Presynaptic congenital myasthenic syndromes
Rare Disease

Presynaptic congenital myasthenic syndromes

Type

Etiological subtype

Gene

CHAT, AGRN, SLC25A1, SNAP25, SYT2, MYO9A

About Presynaptic congenital myasthenic syndromes

Presynaptic congenital myasthenic syndromes is a rare disease catalogued by Orphanet (ORPHA:98914). It is associated with the CHAT, AGRN, SLC25A1 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 Presynaptic congenital myasthenic syndromes trials.

Search ClinicalTrials.gov for "Presynaptic congenital myasthenic syndromes" or filter by Orphanet code ORPHA:98914 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:98914)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Presynaptic congenital myasthenic syndromes trials

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