Join the Registry

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-related diseases are a rare disease, 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-related diseases, their natural history, and their prevalence.

2) Conduct clinical trials:

As a group of rare diseases, RYR-1-related diseases 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-related disease 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-related disease, please contact us.

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