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A Natural History Study of RYR1-Related Disorders
NCT06287762 · View on ClinicalTrials.gov ↗
Study Summary
Background: Congenital myopathies (CM) are genetic disorders that can cause decreased muscle tone and muscle weakness. Most CMs in the United States are related to the ryanodine receptor 1 (RYR1) gene. Researchers need more natural history data to learn about these CMs in children and adults. Objective: To learn more about the signs, symptoms, and course of RYR1-related disorders. Eligibility: People aged 7 years and older with an RYR1-related disorder. Design: Ambulatory participants will come to the Clinical Center and non-ambulatory participants will visit via telehealth. Visits will be once a year for 3 or 5 years. Clinical Center visits will take 2 to 3 days. All participants will undergo tests including: Photos and videos. These will be taken to document the participant s condition. Blood and urine tests. Activity Tracker. Participants will wear a device to record their activity. Questionnaires. Participants will answer questions about their health, pain, fatigue, stress, quality of life, and other topics. Participants who visit the Clinical Center will also undergo: Tests of heart and lung function. Motor skills and strength tests. Participants will walk, climb stairs, kneel, crawl, stand up, and perform other movements to test their strength and abilities. They will squeeze and pinch a handheld device to test their grip. Imaging scans. Skin biopsy. Adult participants may opt to have a sample of skin taken (one time only). Eye exam
Conditions Studied
Study Locations (1)
Maryland
- National Institutes of Health Clinical Center — Bethesda
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 150 participants |
| Start Date | 2025-03-11 |
| Est. Completion | 2031-12-30 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT06287762
The ClinicalTrials.gov registry entry for NCT06287762 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 150 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is National Institutes of Health Clinical Center (CC), which has 209 total studies on file at ClinicalTrials.gov, and sponsors are the parties responsible for study design, oversight, and regulatory filings.
The record links to 2 conditions, with Ryanodine Receptor 1-Related Myopathy 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: NCT06287762 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 NCT06287762 about?
NCT06287762 is a clinical study titled "A Natural History Study of RYR1-Related Disorders". Background: Congenital myopathies (CM) are genetic disorders that can cause decreased muscle tone and muscle weakness. Most CMs in the United States are related to the ryanodine receptor 1 (RYR1) gene. Researchers need more natural history data to learn about these CMs in children and adults. Obje...
What is the current status of trial NCT06287762?
This trial is currently recruiting. The enrollment target is 150 participants. The study started on 2025-03-11. Estimated completion is 2031-12-30.
What conditions does trial NCT06287762 study?
This clinical trial studies the following conditions: Ryanodine Receptor 1-Related Myopathy, Ryanodine Receptor 1 Related Disorders. These conditions were identified from the trial registry and reflect the primary focus areas of the research.
Who is sponsoring clinical trial NCT06287762?
This trial is sponsored by National Institutes of Health Clinical Center (CC), which has 209 total clinical trials registered on ClinicalTrials.gov. The sponsor is responsible for the study's design, funding, and regulatory compliance.
Where is trial NCT06287762 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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