RecruitingNot Applicable

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

United States75 participantsStarted 2025-05-12

Plain-language summary

Background: Congenital myasthenic syndromes (CMSs) are a group of inherited disorders that affect how the nerves communicate with muscles. These can cause many problems that affect how people can move and use their bodies. Objective: This is a natural history study to learn more about how CMSs affect the body and cause changes over time. Eligibility: People aged 6 months or older with a CMS. The study will focus on DOK7- and COLQ-related CMSs, as well as other forms. Design: Participants will have up to 7 visits in 5 years. At each visit, participants will undergo many tests, including: Physical exam with blood and urine tests. Tests of their heart and lung function. Exams of the eyes, lungs, muscles, and nerves. These will be done with different specialists. Exams of the arms and hands and of body use and movements. These will also be done with specialists. Photos and videos may be taken. Muscle ultrasound. Participants will lie still as a wand is rubbed over their skin. Magnetic resonance imaging (MRI) scans. Participants will lie still on a bed that slides partway into a large tube. A parent or other person may remain in the room, too. The scan will take 60 minutes. Electromyography (EMG). Participants will lie still or may be asked to move around. A machine will measure the electrical activity in their muscles. An activity monitor may be placed on the participant s wrist, ankle, or hip for up to 2 weeks. The monitor is about the size of a wristwatch. A sample of skin may be removed....

Who can participate

Age range6 Months – 99 Years

SexALL

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* 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.

What they're measuring

Characterize baseline clinical manifestations and CMS disease

Timeframe: One year

Assess the validity and interrater reliability of outcome measures in CMS

Timeframe: 5 Years

Trial details

NCT IDNCT06630650

SponsorNational Institute of Neurological Disorders and Stroke (NINDS)

Sponsor typeNIH

Study typeOBSERVATIONAL

Primary completion2042-12-02

Contact for this trial

Christopher J Mendoza

(301) 402-9080 christopher.mendoza2@nih.gov