Join the Registry
There are several reasons why this project is so critical. This database will serve to:
1) Increase our understanding of RYR-1-Related Diseases (RYR-1-RD):
RYR-1-RD are an umbrella of rare diseases, although likely not as rare as some believe. RyR1 gene-related abnormalities have been associated not only with congenital myopathy, but also with malignant hyperthermia, intolerance of certain cholesterol-lowering drugs (“statin myopathy”), and exercise intolerance. Building a patient database will allow physicians, researchers, and genetic counselors to better understand the different forms of RYR-1-RD, their natural history, and their prevalence.
2) Conduct clinical trials:
As a group of rare diseases, RYR-1-RD can present a challenge to researchers, pharmaceutical companies, and biotech firms who want to test potential therapies. Without easy access to patients who can serve as study subjects, clinical trials cannot be performed — and without clinical trials, hope for a cure is lost. Thus, by developing a database of RYR-1-RD patients, we can collaborate with those who have found potentially promising therapies.
3) Find a cure:
This is the ultimate goal of The RYR-1 Foundation. As mentioned above, without clinical trials to test potential therapies, finding a cure is highly unlikely. If you or a family member has (or is suspected to have) an RYR-1-RD, please contact us.
You can use the links below to learn more about the other registries available for these conditions, and whether you are eligible to join:
