NCT06630650 A Prospective Natural History and Outcome Measure Validation Study of Congenital Myasthenic Syndromes
| NCT ID | NCT06630650 |
| Status | Recruiting |
| Phase | — |
| Sponsor | National Institute of Neurological Disorders and Stroke (NINDS) |
| Condition | Myasthenic Syndromes, Congenital |
| Study Type | OBSERVATIONAL |
| Enrollment | 75 participants |
| Start Date | 2025-05-12 |
| Primary Completion | 2042-12-02 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 75 participants in total. It began in 2025-05-12 with a primary completion date of 2042-12-02.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief 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....
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.
Contact & Investigator
Christopher Grunseich, M.D.
PRINCIPAL INVESTIGATOR
National Institute of Neurological Disorders and Stroke (NINDS)
Frequently Asked Questions
Who can join the NCT06630650 clinical trial?
This trial is open to participants of all sexes, aged 6 Months or older, up to 99 Years, studying Myasthenic Syndromes, Congenital. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT06630650 currently recruiting?
Yes, NCT06630650 is actively recruiting participants. Contact the research team at dana.macdonald@nih.gov for enrollment information.
Where is the NCT06630650 trial being conducted?
This trial is being conducted at Bethesda, United States.
Who is sponsoring the NCT06630650 clinical trial?
NCT06630650 is sponsored by National Institute of Neurological Disorders and Stroke (NINDS). The principal investigator is Christopher Grunseich, M.D. at National Institute of Neurological Disorders and Stroke (NINDS). The trial plans to enroll 75 participants.