Actively Recruiting
A Prospective Natural History and Outcome Measure Validation Study of Congenital Myasthenic Syndromes
Led by National Institute of Neurological Disorders and Stroke (NINDS) · Updated on 2026-02-27
75
Participants Needed
1
Research Sites
1020 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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....
CONDITIONS
Official Title
A Prospective Natural History and Outcome Measure Validation Study of Congenital Myasthenic Syndromes
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Willingness to comply with all study procedures and availability for the study duration
- Male or female aged 6 months or older
- Clinically stable as confirmed by medical records and screening questionnaire
- Genetically confirmed congenital myasthenic syndrome with pathogenic or likely pathogenic variants in CMS-related genes
- Agreement to follow lifestyle considerations during the study
- Ability to understand and provide informed consent (participants 18 years or older) or assent (participants 7 years or older)
You will not qualify if you...
- Received gene transfer therapy
- Pregnant women prior to enrollment
- Ongoing medical conditions or medication use that interfere with study conduct or safety as judged by the Principal Investigator
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
C
Christopher J Mendoza
CONTACT
C
Christopher Grunseich, M.D.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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