Recruiting

Observational Study

Sponsor:

National Institute of Neurological Disorders and Stroke (NINDS)

Code:

NCT06630650

Conditions

Myasthenic Syndromes, Congenital

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

Study Details

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....

Conditions

Myasthenic Syndromes, Congenital

Study ID

NCT06630650

Start date

May 12, 2025

Status verified date

Aug 11, 2026

Completion date

Dec 2, 2044

Anticipated

Primary completion date

Dec 2, 2042

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

  • 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.

Study Design

Enrollment

75 participants

Anticipated

Interventions and Outcome Measures

Arms

COLQ-related CMS

Genetically confirmed COLQ-related CMS

Primary outcome measure

  • Characterize baseline clinical manifestations and CMS disease [ Time Frame: One year ]
  • Assess the validity and interrater reliability of outcome measures in CMS [ Time Frame: 5 Years ]

Central Contacts and Locations

Central contacts

Dana L Macdonald

(301) 594-1090dana.macdonald@nih.gov

Christopher Grunseich, M.D.

(301) 402-5423grunseichc@mail.nih.gov

Locations

National Institutes of Health Clinical Center

Recruiting

Bethesda, Maryland, United States, 20892

Contacts

NIH Clinical Center Office of Patient Recruitment (OPR)

800-411-1222ccopr@nih.gov

More Information

Sponsor

National Institute of Neurological Disorders and Stroke (NINDS)

Last update posted

Aug 13, 2026

Last verified

Aug 11, 2026

Keywords

  • Congenital Myasthenic Syndrome
  • Collagen Q
  • Downstream of tyrosine kinase 7
  • DOK7
  • COLQ

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by National Institute of Neurological Disorders and Stroke (NINDS) on 2026-08-13.