2020: A Year in Review
January 4, 2021
“Thank you for all your hard work. Prayers are with your team to find the cure. Families like mine are counting on wonderful people like all of you.”
- B.W., mother of an individual affected by an RYR-1-related disease.
Despite the challenges presented by the COVID-19 pandemic, the RYR-1 Foundation has continued its daily work of advancing RYR-1 research and advocating for the RYR-1 community.
I feel very fortunate that our organization has been able to reach many milestones despite the pandemic, as will be detailed below. Our ability to achieve numerous successes is due to generous donors who have continued to provide critically needed support.
Highlights of the last 12 months include:
1. “Clinical Care Guidelines: What Patients & Families Need to Know About RYR-1-Related Diseases:” In September, the RYR-1 Foundation published the long-awaited Clinical Care Guidelines (CCG), made possible by a $50,000 grant from The Oscar and Elsa Mayer Family Foundation. This is a handbook written exclusively for individuals and families affected by RYR-1-related diseases. The CCG has over 100 pages of original content that will help the RYR-1 community better understand RYR-1-related diseases. This free online handbook utilizes numerous educational graphics and illustrations. Many topics are covered, including the role of calcium in RYR-1-related diseases, modes of genetic inheritance, and potential therapies. Each chapter contains a link to extensive online resources that we have provided. Currently, we are working on translating the CCG into ten different languages to maximize its global impact. A copy of the CCG is freely available and easily downloadable at www.ryr1.org/ccg. On this webpage, there is also a brief video that introduces the CCG. This webpage has already been viewed over 1,200 times, and I am pleased by the positive responses we have received. One affected individual wrote:
“I've found the site so informative - the most informative information I've found... I've read the Clinical Care Guidelines and have been digging into all the resources on your website. I plan on providing the guidelines and a number of other resources to our primary care providers so they can be more knowledgeable.”
2. Patient Outreach: Due to the COVID-19 pandemic, the third biennial RYR-1 International Family Conference, scheduled to occur in July 2020, was canceled. In lieu of the in-person conference, we hosted several virtual events for the RYR-1 community throughout the year. These events have been a great way to keep people informed and to strengthen this great community. Some of the events have included:
1) A virtual interview with Dr. Oscar “Hank” Mayer, a distinguished pediatric pulmonologist at CHOP, to discuss the risks of COVID-19 to individuals affected by RYR-1. The full interview is available online (www.ryr1.org/covid19), and I am gratified to report that it has been viewed over 1,600 times.
2) A virtual lecture on the pathophysiology of RYR-1-related diseases by Dr. Robert Dirksen, a member of the RYR-1 Foundation Scientific Advisory Board. This can be viewed at www.ryr1.org/calcium.
3) The virtual “Run, Walk, or Roll 5K/1K” fundraiser led by Trustee Emily Pedersen. We had 239 participants and raised over $20,000. To view a montage of photos/videos from individuals from all over the world, please visit: www.ryr1.org/virtualrace.
3. Research: The RYR-1 Foundation is currently funding six research projects from four countries, representing a commitment of over $450,000 in grants. In total, the RYR-1 Foundation has committed over $1.3 million in research funding since its inception. This level of funding, which is absolutely critical to advancing the field of RYR-1 research, would not have been possible without the exceptional generosity of our many benefactors. These research projects are focused on better understanding the mechanisms of RYR-1-related diseases and assessing the effectiveness of potential therapies.
As always, the progress of our funded research projects is assessed on a biannual basis by the Scientific Advisory Board (SAB). Although COVID-19 has prevented the SAB from meeting in-person, we continue to host the meetings virtually, including our most recent meeting on December 4, 2020. These are critically important forums for the world’s leading RYR-1 researchers and clinicians to share research, to collaborate, and, ultimately, to advance the field of RYR-1-related diseases.
4. Partnering with Pharmaceutical and Biotech Companies: Biomedical research is an extremely expensive endeavor. After learning how other rare disease organizations have rapidly advanced therapeutic options, we felt that it would be important to develop collaborations with the biotech industry in hopes of accelerating research and therapeutic development. Over the last several months, I have had numerous meetings with leaders of pharmaceutical and biotech companies to explore possible relationships in order to develop therapies for RYR-1. These conversations are still in their infancy, but I am hopeful that some will mature and lead to clinical advances.
5. Rycals: Rycals are a new class of drugs that have shown potential benefits in treating patients with RYR-1-related diseases. For more information on the vital role the RYR-1 Foundation played in getting Rycals approved for a human clinical trial at the National Institutes of Health (NIH), please go to: www.ryr1.org/rycals. I am thrilled to report that the trial is currently ongoing, and several patients have already received a course of this experimental drug. For details of the clinical trial, please go to: www.clinicaltrials.gov/ct2/show/NCT04141670.
6. Fundraising: The RYR-1 Foundation has raised $3.4 million since we launched in 2014. In 2019 alone, we raised almost $700,000. Additionally, I am excited to announce the RYR-1 Foundation’s 2020 Matching Campaign. We have received a pledge of $50,000 from our Board of Trustees! In order to receive the matching pledge, we needed to raise an equal amount by December 31, 2020. These funds will significantly impact our mission: 1) To support research leading to an effective treatment or a cure for RYR-1-related diseases, and 2) To improve the lives of the families and individuals affected by RYR-1-related diseases.
Of course, none of these accomplishments would ever have been possible without our donors, Board of Trustees, Board of Advisors, Scientific Advisory Board, and volunteers. So, thank you to everyone who helped! Many challenges and opportunities await, and I look forward to transforming our slogan, Strength In Numbers, into a reality.
With sincere gratitude,
Michael F. Goldberg, MD, MPH
President & Co-Chair of Research