Cure My Disease

Don't miss your cure!

Home News Browse About
Log in / Sign up

Congenital myasthenic syndrome 18

MONDO:0014590

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SNAP25 gene.

Also known as: CMS18, SNAP25 congenital myasthenic syndrome, SNAP25-DEE, congenital myasthenic syndrome caused by mutation in SNAP25, congenital myasthenic syndrome type 18, myasthenic syndrome, congenital, 18, myasthenic syndrome, congenital, 18, with intellectual disability and ataxia, myasthenic syndrome, congenital, type 18

1 clinical trial for this condition and its sub-types.

Follow this condition — get notified about new trials

Broader categories

Disease (618) Nervous system disorder (217) Hereditary disease (172) Neuromuscular disease (98) Syndromic disease (24) Human disease (14) Hereditary neurological disease (5) Congenital myasthenic syndrome (4) Hereditary neuromuscular disease (3) Disease of genetic or genomic mechanism (2)
Not yet recruiting 1
Sort by
  • Gene therapy readiness check: new study maps virus immunity in muscle disease patients

    Knowledge-focused Not yet recruiting

    This study will test blood samples from 450 people aged 6 to 60 with inherited neuromuscular diseases to see if they have antibodies that could block gene therapy viruses (AAVs). The goal is to understand how common these antibodies are and which patients might be good candidates…

    Phase: NA • Sponsor: Genethon • Aim: Knowledge-focused

    Last updated Jun 27, 2026 13:04 UTC

Cure My Disease

Helping patients find clinical trials that match their disease.

Why was Cure my disease built?

Explore

Home News Browse About Terms of use Contact us

This is a site from Cyber and Space