Clinical Trials & Research Studies
Advancing research in RYR-1-Related Diseases (RYR-1-RD) depends on strong collaboration between researchers, clinicians, patients, and families. Participation in clinical trials and research studies helps accelerate the development of better treatments, improved standards of care, and ultimately cures for individuals living with RYR-1-RD.
This page serves as a resource for learning about current and upcoming clinical trials, natural history studies, patient registries, surveys, and other research opportunities relevant to the RYR-1-RD community.
Why Participate in Research?
Research participation may help:
- Advance scientific understanding of RYR-1-RD
- Improve diagnosis and clinical care
- Support the development of future therapies
- Ensure the patient voice is represented in research efforts
- Build stronger data resources for the rare disease community
Participation is always voluntary, and each study has its own eligibility requirements, timelines, and commitments.
Current Research Opportunities
A Single-Center Prospective Natural History Study of RYR1-Related Disorders
- Sponsored by the National Institutes of Health Clinical Center (CC)
- This observational study aims to help researchers better understand how RYR1-related disorders (RYR1-RD) affect individuals over time. The five-year study will include yearly visits to collect information about symptoms, muscle function, and overall health in both ambulatory and non-ambulatory individuals living with RYR1-RD. The knowledge gained will help improve understanding of the condition and support the development of future clinical trials and treatments.
- Participants may qualify if they:
- Are 7 years of age or older
- Have a confirmed genetic diagnosis of RYR-1-RD
- Reside in the United States
- Located in Bethesda, Maryland USA
- Flyer for more information on this clinical study
- More information on ClinicalTrials.gov
A Phase 2, Randomized, Double-Blind, Placebo-Controlled Trial to Assess the Efficacy and Safety of Surlorian (ARM210, S48168) in Adults With Autosomal Dominant RYR1-Related Myopathy
- Sponsored by RyCarma Therapeutics, Inc.
- This study is testing a medicine called surlorian in adults who have a genetic muscle condition known as autosomal dominant RYR1-related myopathy (RYR1-RM). The goal is to find out whether surlorian improves muscle weakness, and whether it is safe and well tolerated.
- Participants may qualify if they:
- Are 18 years or older
- Have a confirmed genetic diagnosis of autosomal dominant RYR1-RM
- Are able to walk 10 meters with or without a cane
- Located at multiple sites across Europe
- More information and details on ClinicalTrials.gov
ClinicalTrials.gov
Many clinical studies are listed on the U.S. National Library of Medicine’s clinical trial database.
To view all studies related to RYR-1-RD, please visit this ClinicalTrials.gov webpage.
Important Information
The RYR-1 Foundation shares research opportunities for informational purposes only. Listing a study on this website does not constitute an endorsement of any specific treatment, therapy, institution, or investigator. Individuals should discuss participation and medical decisions with their healthcare providers.
For Researchers
Researchers and institutions interested in sharing a clinical trial, survey, or study opportunity with the RYR-1-RD community are encouraged to contact us.
If you are interested in collaborating with us, please email Lena Leghart.
