Observing how congenital myasthenic syndromes affect patients over time

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to understand the natural history of congenital myasthenic syndromes (CMS) by following participants over a five-year period. Individuals aged six months and older with genetically confirmed CMS will undergo a series of tests, including physical exams, heart and lung function assessments, and muscle ultrasounds. The study focuses on DOK7 and COLQ-related CMSs, aiming to characterize clinical manifestations and validate outcome measures for future clinical trials. Participants will have up to seven visits, allowing researchers to track changes in physical strength, performance, and disease severity.

Why it matters

Who can join: the full rules

* INCLUSION CRITERIA:

In order to be eligible to participate in this study, an individual must meet all of the following criteria:

* Stated willingness to comply with all study procedures and availability for the duration of the study
* Male or female, aged \>= 6 months of age
* Clinically stable as evidenced by medical record review and remote screening questionnaire
* Genetically confirmed congenital myasthenic syndrome (pathogenic or likely pathogenic variants identified by CLIA testing in an established CMS-related gene including but not limited to DOK7, COLQ, CHRNE, RAPSN, CHAT, GFPT1, DPAGT1 OR pathogenic/likely pathogenic variant in combination with a variant of uncertain significance (VUS) AND additional clinical supporting evidence of CMS).
* Agreement to adhere to Lifestyle Considerations throughout study duration
* Ability of subject to understand and the willingness to provide informed consent (\>=18 years of age) and assent (\>=7 years of age).

EXCLUSION CRITERIA:

* Received gene transfer therapy
* Pregnant women (prior to enrollment)
* Ongoing medical condition or medication use that is deemed by the Principal Investigator to interfere with the conduct or assessments of the study or safety of the subject.

Where it's running

• National Institutes of Health Clinical Center
  Bethesda, Maryland, United States Recruiting

Study contacts

• Principal investigator: Christopher Grunseich, M.D. — National Institute of Neurological Disorders and Stroke (NINDS)
• Study coordinator: Dana L Macdonald
• Email: dana.macdonald@nih.gov
• Phone: (301) 594-1090

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.