RareTrial

Rare condition

Congenital myasthenic syndrome

ORPHA:590 ↗
Search all Congenital myasthenic syndrome trialsAlert me when a trial opens

7

studies recruiting now

as of 7 Sept 2026

25

studies registered in total

as of 7 Sept 2026

13

countries with a recruiting site

as of 7 Sept 2026

17 Mar 2026

most recent study posted

among recruiting studies

Recruiting trials

Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.

See all 7 recruiting studies

Where recruiting studies are running

Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.

Antigua and BarbudaAustriaBelgiumBrazilCanadaFranceGermanyItalyJapanPolandSpainUnited KingdomUnited States

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Patient organisations

We do not yet list a dedicated organisation for this condition. The directories below are the best route.

NORD ↗GARD ↗Orphanet ORPHA:590 ↗

About Congenital myasthenic syndrome

RareTrial does not yet hold a plain-language description of this condition. The most reliable starting point is Orphanet’s expert page, which lists specialist centres, registries and patient organisations.

Orphanet expert page ↗GARD (NIH) ↗

Treatments being studied

1 approved treatment and 3 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.

Approved: Amifampridine Phosphate (Amifampridine serb)
Phase 1/2Ephedrine
Phase 1Albuterol (Aerolin)
Phase 1Argx-119

Related conditions

Neuromuscular

Lambert-Eaton Myasthenic Syndrome

Mitochondrial

Congenital myasthenic syndrome with mitochondrial defect

Neuromuscular

Congenital myopathy with myasthenic-like onset

Autosomal dominant congenital myasthenic syndromes due to defective synaptic vesicles exocytosis

Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis

Congenital myasthenic syndrome due to a sodium channel 1.4 defect

Congenital myasthenic syndrome due to defective synaptic vesicles exocytosis

Congenital myasthenic syndrome due to defective synthesis or recycling of acetylcholine

Congenital myasthenic syndrome due to defects in endplate development and maintenance

Congenital myasthenic syndrome with glycosylation defect

Congenital myasthenic syndrome with kinetic defect

Congenital myasthenic syndrome with kinetic defect due to reduced ion channel conductance

Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).