Updated: March 2026

Current studies on CMS

Congenital myasthenic syndromes · Overview of ongoing clinical studies and publications (2024–2026)

Snapshot

What research currently shows

01
Diagnostics are improving

A notable share of adults labeled with seronegative myasthenia gravis may actually have genetically confirmed CMS. Earlier genetic testing matters.

02
Natural history is foundational

Most active studies in 2026 are observational and focus on robust phenotyping and valid outcomes for future interventional trials.

03
Therapy remains genotype-specific

Pyridostigmine, salbutamol, ephedrine, and amifampridine are used depending on the causative gene. A one-size-fits-all standard is not emerging.

04
Outcome measures are a bottleneck

Classic MG scales are only partly suitable for CMS, making ongoing validation studies critical for future research.

ClinicalTrials.gov

Ongoing clinical studies

Active recruiting and ongoing studies directly related to CMS.

NCT06078553 ↗
Recruiting
Feb 2024 – Jun 2027
Observational study
Natural History Study in Participants With CMS Due to Mutations in DOK7, MUSK, AGRN, or LRP4
Focus: DOK7-, MUSK-, AGRN-, and LRP4-associated CMS
One of the most important current CMS studies. Systematically captures disease course, symptoms, and quality of life, laying the foundation for future therapeutic trials.
Priority 1
NCT06630650 ↗
Recruiting
Updated Feb 2026
Observational study
A Prospective Natural History and Outcome Measure Validation Study of Congenital Myasthenic Syndromes
Focus: Longitudinal characterization of all CMS, with focus on DOK7 and COLQ
Particularly relevant for trial readiness: aims to establish valid endpoints and inter-rater reliability for future clinical studies.
Priority 2
NCT02189720 ↗
Ongoing
Ongoing
Expanded Access
Expanded Access Study Amifampridine Phosphate
Focus: Access to amifampridine/Firdapse for neuromuscular junction disorders including CMS
Shows that amifampridine continues to play a therapeutic role.
PubMed

Recent publications (2024–2026)

Relevant scientific work on diagnostics, therapy, and genetics.

Diagnostics & outcomes
2025
Krenn M et al.
Screening for Congenital Myasthenic Syndromes in Adults With Seronegative Myasthenia Gravis Using Next-Generation Sequencing
14% of investigated adults with seronegative MG had genetically confirmed CMS.
Top 3
2025
Akçay AA et al.
Congenital Myasthenic Syndrome: Long-Term Outcomes up to 60 Years, Molecular Characterization, and Eight Novel Variants
Cohort study of 22 patients; variants in 8 genes: CHRNE, DOK7, GFPT1, COLQ, SLC25A1, CHAT, MUSK, MYO9A.
Top 5
2025
Ramjattan H et al.
An observational longitudinal study of congenital myasthenic syndromes
First study to longitudinally examine outcome measures in a CMS population. Classic MG scales are not directly transferable to CMS.
2024
Polavarapu K et al.
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort
156 genetically diagnosed patients. CHRNE most common, followed by DOK7, DPAGT1, GFPT1, MUSK, GMPPB, COLQ.
2024
Theuriet J et al.
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis
Overview of adult CMS patients. Important because CMS is often viewed as a pediatric condition.
Therapy
2025
Takhman M et al.
Salbutamol in Congenital Myasthenic Syndrome: A Systematic Review
Systematic review of the literature on salbutamol in genetically confirmed CMS.
Top 4
2026
Erturk AY et al.
Therapeutic Management in an AGRN-Related Congenital Myasthenic Syndrome Patient
Case-based therapeutic discussion of a rare AGRN-CMS.
2024
Ziaadini B et al.
DOK7 congenital myasthenic syndrome: case series
Case series on DOK7-CMS and treatment response. DOK7 is a prototypical subtype with its own management approach.
Genetics & novel subtypes
2026
Diverse authors
Compound heterozygous CHAT gene mutations in two siblings with congenital myasthenic syndrome
Novel genetic constellation in CHAT-CMS. Relevant as CHAT-CMS is associated with episodic respiratory involvement.
2025
Diverse authors
Identifying novel AGRN variants in congenital myasthenic syndrome
Novel AGRN variants described. Important for rare subtypes and variant databases.
Limitations

The study landscape for CMS remains small. Many recent works are cohort studies, case series, or systematic reviews, not large randomized phase 3 trials. The current pipeline points more toward trial readiness for future therapies than an immediate new standard treatment. Sources: ClinicalTrials.gov, PubMed (2024–2026).