Actively Recruiting
A Single-Center Prospective Natural History Study of RYR1-Related Disorders
Led by National Institutes of Health Clinical Center (CC) ยท Updated on 2026-01-23
150
Participants Needed
1
Research Sites
34 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
This research aims to better understand Ryanodine Receptor 1-related disorders (RYR1-RD), a group of rare genetic muscle diseases that affect both children and adults. These disorders often cause muscle weakness and progress slowly over time. The study is observational and seeks to gather detailed information about the signs, symptoms, and progression of these conditions to improve knowledge and support future clinical trials. Participants who can walk will visit the Clinical Center once a year for up to five years, with each visit lasting two to three days. Those who cannot walk will participate through telehealth visits once a year for the same duration. During these visits, researchers will collect various data including photos, videos, blood and urine samples, and activity tracking with wearable devices. Additional tests for those attending in person include heart and lung function assessments, motor skills and strength evaluations, imaging scans, eye exams, and optional skin biopsies for adults. Throughout the study, participants will complete questionnaires about their health, pain, fatigue, stress, and quality of life. Researchers will monitor changes in muscle function, lung capacity, and patient-reported outcomes over three and five years. The study also includes exploratory biomarker research and uses multiple clinical assessments to track disease progression. The total involvement time varies but includes annual visits over three to five years, with some participants attending in person and others remotely.
CONDITIONS
Brief 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 availability for the study duration
- Male or female aged 7 years or older
- Genetically confirmed RYR1-related disorder by CLIA testing or variant of uncertain significance with supporting clinical signs
- Ability to communicate understanding of the study and provide assent or consent
- Residence in the United States
- Agreement to follow lifestyle considerations during the study (centralized arm only)
You will not qualify if you...
- Participation in an investigational drug or device study in the past six months
- Severe disability or mobility issues preventing walking 10 meters (centralized arm only)
- Requirement of mechanical ventilation or tracheotomy (centralized arm only)
- Presence of other neuromuscular diseases causing muscle weakness
- Ongoing medical conditions that interfere with study conduct or safety, such as active infection
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person or via telehealth)
Duration - 5 years
Participants are observed annually to characterize the clinical manifestations and course of RYR1-related disorders through assessments including motor function, pulmonary function, patient-reported outcomes, ophthalmology exams, and exploratory biomarker collection.
1 visit per year for 5 years
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.
T
Tokunbor A Lawal, C.R.N.P.
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
Frequently Asked Questions
Have more questions? Get in touch with our team for quick support
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here