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NCT06287762 · ClinicalTrials.gov registry record
A Natural History Study of RYR1-Related Disorders
A clinical trial of Ryanodine Receptor 1-Related Myopathy and Ryanodine Receptor 1 Related Disorders, sponsored by National Institutes of Health Clinical Center (CC).
- Recruiting
- Registry status
- 150
- Enrollment target
- 1
- Study location
NCT06287762: Recruiting study of Ryanodine Receptor 1-Related Myopathy and Ryanodine Receptor 1 Related Disorders, sponsored by National Institutes of Health Clinical Center (CC).
NCT06287762 is a study of Ryanodine Receptor 1-Related Myopathy and Ryanodine Receptor 1 Related Disorders that is actively recruiting participants, run by National Institutes of Health Clinical Center (CC). The registered enrollment target is 150 participants. The trial reports 1 study location across 1 state. According to ClinicalTrials.gov, the official US trial registry.
The verdict
NCT06287762, a study of Ryanodine Receptor 1-Related Myopathy and Ryanodine Receptor 1 Related Disorders, is actively recruiting participants, sponsored by National Institutes of Health Clinical Center (CC).
- RECRUITING
- Registry status
- 150 participants
- Enrollment target
- 1
- Study location
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
Primary Outcome
Serious (21CFR312.32) adverse events:- Narrative description (clinician)- Causality assessment (related or unrelated to disease)- CTCAE system organ class- CTCAE lower-level term- Falls questionnaire; adults
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 |
What NCT06287762 shows while recruiting
NCT06287762 is an observational study that tracks outcomes without assigning an intervention. The registered 150 participants enrollment target is mid-sized for trials with a published cap.
The record links to 2 conditions, with Ryanodine Receptor 1-Related Myopathy appearing as the primary indexed condition, and to 0 interventions.
NCT06287762 reports a single indexed study location in Maryland.
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.
Who is sponsoring clinical trial NCT06287762?
This trial is sponsored by National Institutes of Health Clinical Center (CC), which has 338 total clinical trials registered on ClinicalTrials.gov.
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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