Observing how congenital myasthenic syndromes affect patients over time
A Single Center Prospective Natural History and Outcome Measure Validation Study of Congenital Myasthenic Syndromes
National Institutes of Health Clinical Center (CC) · NCT06630650
This study is tracking how congenital myasthenic syndromes affect people over five years to better understand the condition and help improve future treatments.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 75 (estimated) |
| Ages | 6 Months to 99 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) (nih) |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT06630650 on ClinicalTrials.gov |
What this trial studies
This observational study aims to understand the natural history of congenital myasthenic syndromes (CMS) by following participants over a five-year period. Individuals aged six months and older with genetically confirmed CMS will undergo a series of tests, including physical exams, heart and lung function assessments, and muscle ultrasounds. The study focuses on DOK7 and COLQ-related CMSs, aiming to characterize clinical manifestations and validate outcome measures for future clinical trials. Participants will have up to seven visits, allowing researchers to track changes in physical strength, performance, and disease severity.
Who should consider this trial
Good fit: Ideal candidates include individuals aged six months or older with genetically confirmed congenital myasthenic syndromes.
Not a fit: Patients without a confirmed genetic diagnosis of congenital myasthenic syndromes may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of congenital myasthenic syndromes, enhancing patient care.
How similar studies have performed: While studies on congenital myasthenic syndromes are limited, similar observational studies have provided valuable insights into rare neuromuscular disorders.
Eligibility criteria
Show full inclusion / exclusion 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.
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (RECRUITING)
Study contacts
- Principal investigator: Christopher Grunseich, M.D. — National Institute of Neurological Disorders and Stroke (NINDS)
- Study coordinator: Christopher J Mendoza
- Email: christopher.mendoza2@nih.gov
- Phone: (301) 402-9080
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Myasthenic Syndromes, Congenital, Congenital Myasthenic Syndrome, Collagen Q, Downstream of tyrosine kinase 7, DOK7, COLQ