A Natural History Study of RYR1-Related Disorders
Public ClinicalTrials.gov record NCT06287762. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Official title
A Single-Center Prospective Natural History Study of RYR1-Related Disorders
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
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
Study identification
- NCT ID
- NCT06287762
- Recruitment status
- Recruiting
- Study type
- Observational
- Phase
- Not listed
- Enrollment
- 150 participants
Conditions and interventions
Interventions
Not listed
Eligibility (public fields only)
- Age range
- 7 Years to 100 Years
- Sex
- All
- Healthy volunteers
- Healthy volunteers not accepted
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Mar 10, 2025
- Primary completion
- Apr 29, 2031
- Completion
- Dec 29, 2031
- Last update posted
- Jan 22, 2026
2025 – 2031
United States locations
- U.S. sites
- 1
- U.S. states
- 1
- U.S. cities
- 1
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| National Institutes of Health Clinical Center | Bethesda | Maryland | 20892 | Recruiting |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT06287762, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted Jan 22, 2026 · Synced Sep 7, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT06287762 live on ClinicalTrials.gov.