Profile of the RYR-1 Foundation

Mutations in the RYR-1 gene are known to cause multiple types of muscle cell abnormalities, one of which is centronuclear myopathy. In 2017 The Information Point recently spoke with Rachel Bronstein, Program Coordinator at the RYR-1 Foundation, herself diagnosed with centronuclear myopathy caused by a mutation in the RYR-1 gene, to learn more about their work.

Tell us about the RYR-1 Foundation

The RYR-1 Foundation is a public charity, designated as a 501(c)(3) organization by the IRS. The Foundation was started by members of the Goldberg Family, who have been affected by RYR-1 muscle disease (myopathy). Currently, there is no other organisation that exists solely to advocate for and serve the needs of individuals with RYR-1 myopathy. The goal of the organisation is to fill this void.

Can you tell us about your logo

The logo of the Foundation is a back to front ‘R’ – the founders thought it was eye catching and interesting. The colors and pattern in the ‘RYR-1’ logo are designed to look like muscle fibers.

What can you tell us about RYR-1 myopathy, its different muscle cell types and how they affect people

RYR-1 myopathy is caused by a mutation or mutations in the RYR-1 gene. The actual mutation will cause different types of abnormalities in the ryanodine receptor 1 (RYR-1), a calcium channel in skeletal muscle cells. Prior to genetic testing, muscle diseases were diagnosed based on muscle biopsy. RYR-1 myopathy affects different individuals in various ways. Mutations in the RYR-1 gene can lead to changes in the muscle cell that result in varying appearances based on muscle biopsy. These include Central Core Disease (CCD), Centronuclear Myopathy (CNM), Multiminicore Disease (MMD) and Congenital Fiber-Type Disproportion (CFTD). In addition, individuals with RYR-1 mutations can be at increased risk for malignant hyperthermia (MH), a potentially fatal reaction to anesthesia. In fact, some individuals with RYR-1 mutations will have little, if any, muscle weakness but will only have a susceptibility to MH (MHS).

Participants at RYR-1 family conference.

How rare is RYR-1 myopathy

RYR-1 myopathy is classified as an orphan disease. Its exact prevalence is not known.

Why should people join your patient registry

There are several reasons why the patient registry is extremely critical. All affected individuals with RYR-1 myopathy are encouraged to join the RYR-1 Foundation’s registry. This database will serve to:

a) Increase our understanding of RYR-1 muscle disease

RYR-1 myopathy is a rare disease, although likely not as rare as some believe. RYR-1 gene abnormalities have been associated not only with congenital myopathy but also with MHS, intolerance of certain cholesterol lowering drugs (‘statin myopathy’) and rhabdomyolysis. Building a patient database will allow physicians, researchers, and genetic counselors to better understand the different forms of RYR-1 myopathy, its natural history and its prevalence.

b) Conduct clinical trials

As a rare disease, RYR-1 myopathy can present a challenge to researchers, pharmaceutical companies and physicians 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 diminished. Thus, by developing a database of RYR–1 myopathy patients, we can collaborate with those who have found potentially promising therapies.

c) 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.

Mike and Jackson

In 2015 you announced your first request for grant applications and this was followed by a second round of grant applications in 2016 – what can you tell us about this

The RYR-1 Foundation began accepting grant applications in July 2015 as a way to help facilitate research for RYR-1 myopathy. We ultimately awarded almost $300,000 in research grant funding. In addition, we recently have awarded over $500,000 in grants for 2017-2018. It is our hope that with the funding of research grants, we will come one step closer to finding an effective treatment or a cure for RYR-1 myopathy. Our research priorities are based on the input we receive from our Scientific Advisory Board and we look forward to supporting many worthy research projects.

You sponsored the Gordon Research Conferences in 2015 and 2017 – what can you tell us about this

These conferences focus on the main mechanisms related to the role of the RYR-1 receptor in muscle contraction. The Foundation wanted to support this as it directly relates to RYR-1 myopathy and dysfunction of the RYR-1 receptor. The meetings are led and attended by experts in RYR-1-related diseases.

Tell us about your first family conference

The first ever RYR-1 International Family Conference was held in Baltimore, Maryland in July 2016. It was an overwhelming success. Over 200 individuals from around the world came together to listen to world-renowned experts speak about RYR-1-related-myopathies. This conference was vital to our mission of supporting individuals and their families with this rare condition. A question and answer session allowed affected individuals and their family members to obtain answers from our panel of experts. The conference would not have been possible without the amazing organisational skills and tireless efforts of Jeni Ryan, a trustee of the RYR-1 Foundation. The RYR-1 Foundation hopes to host a Family Conference every two years. The next one is in the process of being planned for the summer of 2018. An announcement will be made soon with details including dates and location.

Scientists

You participated in and co-hosted the 217th ENMC workshop on RYR1-related myopathies – what can you tell us about this

Due to the rarity of RYR-1 myopathy, there had been no regularly scheduled meetings devoted to this condition. In response, the RYR-1 Foundation co-hosted a three day RYR-1 workshop in the Netherlands, which included some of the world’s leading authorities in muscle disease. This was a unique opportunity for these clinicians and researchers to share their research, exchange ideas, and discuss future research projects.

What do you hope the RYR-1 Foundation will achieve in 2017

As mentioned above, we have committed a large sum of money to research grants related to RYR-1-related diseases; we look forward to reviewing the results of these ongoing research projects. In addition, we hope to increase the size of our patient registry. Other goals include improving our outreach to individuals, families, researchers and physicians. We also have begun planning for the 2018 RYR-1 International Family Conference.

Our motto, ‘Strength in Numbers’, reminds us that any success we achieve will be dependent on not only the leadership and staff of the RYR-1 Foundation but also our many generous donors, volunteers, affected individuals, physicians, and researchers. As a non-profit public charity, we immensely appreciate your support.

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