A Prospective Natural History and Outcome Measure Validation Study of Congenital Myasthenic Syndr… (NCT06630650) | Clinical Trial Compass
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 range
6 Months – 99 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
* 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.
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Characterize baseline clinical manifestations and CMS disease
Timeframe: One year
2
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)