Actively Recruiting
A Natural History Study of RYR1-Related Disorders
Led by National Institutes of Health Clinical Center (CC) · Updated on 2026-01-23
150
Participants Needed
1
Research Sites
355 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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
Official Title
A Natural History Study of RYR1-Related Disorders
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Willingness to comply with all study procedures and provide medical records before screening
- Male or female aged 7 years or older
- Genetically confirmed RYR1-related disorder shown by specific genetic testing or clinical phenotype with uncertain variant
- Agreement to follow lifestyle considerations during the study
- Ability to understand the study purpose and provide informed consent or assent
- Residence in the United States
You will not qualify if you...
- Participation in a clinical study with investigational drug or device in the past six months
- Severe disability or inability to walk 10 meters with or without assistance (centralized arm only)
- Need for mechanical ventilation or tracheotomy (centralized arm only)
- Other neuromuscular diseases causing muscle weakness
- Ongoing medical condition that may interfere with the study or safety, such as an active infection
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
I
Irene C Chrismer, R.N.
CONTACT
T
Tokunbor A Lawal, C.R.N.P.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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