A Prospective Natural History and Outcome Measure Validation Study of Congenital Myasthenic Syndromes

Launched by NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE (NINDS) · Oct 7, 2024

Keywords

ClinConnect Summary

This clinical trial is studying congenital myasthenic syndromes (CMSs), which are inherited conditions that affect how nerves communicate with muscles, leading to difficulties with movement. The goal of the trial is to gather information about how CMSs change over time and to validate new ways to measure these changes. It is open to individuals aged 6 months and older who have been genetically confirmed to have CMS. Participants must be stable in their health and able to follow study procedures.

If you or your child join this study, you will have up to seven visits over five years. During these visits, various tests will be conducted, including physical exams, heart and lung function tests, and evaluations of muscle and nerve function. Some tests involve using imaging machines like MRIs or ultrasounds, and activity monitors may be worn for up to two weeks to track movement. This study aims to better understand CMSs and improve care for those affected.

Gender

ALL

Eligibility criteria

• * 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.