New study tracks rare muscle disorders to improve future care
NCT ID NCT06630650
First seen Jun 27, 2026 · Last updated Aug 14, 2026 · Updated 2 times
Summary
This study follows 75 people aged 6 months or older with congenital myasthenic syndromes (CMS), a group of inherited disorders that weaken communication between nerves and muscles. Over up to 7 visits in 5 years, researchers will use physical exams, heart and lung tests, MRIs, and other assessments to track how the disease changes. The goal is to better understand CMS and validate tools for measuring its progression.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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About 75 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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May 2025
- Expected to finish
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Dec 2044
An estimate. End dates often move.
- Lead sponsor
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A government research agency
The lead sponsor is the US National Institutes of Health.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
Patients with congenital myasthenic syndromes with a focus on DOK7 and COLQ subtypes.
- Ages
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6 months to 99 years
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
* 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.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
1 site. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
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National Institutes of Health Clinical Center
RECRUITINGBethesda, Maryland, 20892, United States