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A Prospective Natural History and Outcome Measure Validation Study of Congenital Myasthenic Syndromes
NCT06630650 · View on ClinicalTrials.gov ↗
Study 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 Studied
Study Locations (1)
Maryland
- National Institutes of Health Clinical Center — Bethesda
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 75 participants |
| Start Date | 2025-05-12 |
| Est. Completion | 2044-12-02 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT06630650
The ClinicalTrials.gov registry entry for NCT06630650 describes a study currently listed as recruiting. It is categorized as an unspecified phase, which is the standard way researchers label where a study sits along the investigational pathway from early safety work through later efficacy and post-marketing evaluation. The registered enrollment target is 75 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is National Institute of Neurological Disorders and Stroke (NINDS), which has 339 total studies on file at ClinicalTrials.gov, and sponsors are the parties responsible for study design, oversight, and regulatory filings.
The record links to 1 condition, with Myasthenic Syndromes, Congenital appearing as the primary indexed condition, and to 0 interventions. Interventions can include drugs, devices, procedures, behavioral programs, or observational arms, and each is tracked as a separate registry field so that downstream queries can filter accurately. When a trial lists multiple interventions, it usually reflects a multi-arm design or a comparison protocol rather than a single treatment being tested in isolation. The brief summary published in the registry is the clearest source of protocol intent and should be read before drawing conclusions from any sidebar tags.
Geographic footprint matters for practical reasons: NCT06630650 reports 1 study location spanning 1 distinct geographic area — top geographies include Maryland. A larger site network tends to correlate with broader recruitment capacity, but it does not imply anything about study quality, and site-level enrollment status can diverge from the overall registry status shown above. Every data point on this page comes from the public ClinicalTrials.gov dataset and is reproduced here for reference only; it is not a medical recommendation, an endorsement of the sponsor, or an invitation to enroll. Verify current status, eligibility criteria, and contact details directly at ClinicalTrials.gov, and discuss any participation decision with your own healthcare provider.
Frequently Asked Questions
What is clinical trial NCT06630650 about?
NCT06630650 is a clinical study titled "A Prospective Natural History and Outcome Measure Validation Study of Congenital Myasthenic Syndromes". 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 af...
What is the current status of trial NCT06630650?
This trial is currently recruiting. The enrollment target is 75 participants. The study started on 2025-05-12. Estimated completion is 2044-12-02.
What conditions does trial NCT06630650 study?
This clinical trial studies the following conditions: Myasthenic Syndromes, Congenital. These conditions were identified from the trial registry and reflect the primary focus areas of the research.
Who is sponsoring clinical trial NCT06630650?
This trial is sponsored by National Institute of Neurological Disorders and Stroke (NINDS), which has 339 total clinical trials registered on ClinicalTrials.gov. The sponsor is responsible for the study's design, funding, and regulatory compliance.
Where is trial NCT06630650 being conducted?
This trial has 1 study location across Maryland. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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