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congenital myasthenic syndrome (CMS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital myasthenic syndrome

MONDO:0018940

Also known as:CMSCongenital Myasthenic Syndromesmyasthenic syndrome, congenital

Find Clinical TrialsTrials

Overview

Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness.

OnsetCONGENITAL, INFANTILE, ANTENATAL

TreatmentsNo approved treatments · 5 in pipeline

Clinical Trials5 registered · 3 recruiting

Diagnosis

Biomarker and diagnostic research for congenital myasthenic syndrome has been reported in the published literature.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for congenital myasthenic syndrome. An additional 5 compounds hold orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for congenital myasthenic syndrome, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for congenital myasthenic syndrome. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Brand Name	Generic Name	Sponsor

Prognosis

Estimated prevalence: 1-9 in 1,000,000 (Rare).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

5 clinical trials registered, 3 recruiting. Interventions under study include other interventions and biologic therapy. Pipeline includes 1 PHASE3, 2 PHASE1. Research is sponsored by a mix of industry and academic institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT06078553](https://clinicaltrials.gov/study/NCT06078553)

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:19 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:590

GARD

Genetic and Rare Diseases Info Center

GARD:11902

Questions for Your Care Team

→Are any of the 5 active clinical trials a good fit for my situation?
→With 5 compounds in the orphan drug pipeline, which are furthest along in development and which clinical trials should I be aware of?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Research Type	Count	% of Total
Patient case studies	49	38%
Research summaries	25	19%
Laboratory research	22	17%
Disease patterns and progression	18	14%
Testing and diagnosis research	7	5%
New treatment approaches	6	5%
Clinical study results	2	2%

Kisho

congenital myasthenic syndrome

Overview

Diagnosis

Treatment

Orphan Drug Designations

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Trials

Recent Publications

Latest News & Developments

Clinical Variability and Genotype-Driven Outcomes in CHRND-Related Congenital Myasthenic Syndrome.

Congenital myasthenic syndromes in a Southeast Asian adult neurology clinic: a long road to diagnosis and therapy.

congenital myasthenic syndrome

Overview

Diagnosis

Treatment

Orphan Drug Designations

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Trials

Recent Publications

Latest News & Developments

Clinical Variability and Genotype-Driven Outcomes in CHRND-Related Congenital Myasthenic Syndrome.

Congenital myasthenic syndromes in a Southeast Asian adult neurology clinic: a long road to diagnosis and therapy.