2021 In Review

Will my child be able to walk? How will I be able to get a job? Can my child play outside on a hot day? Can I undergo routine surgery without dying from anesthesia complications? Individuals and families affected by RYR-1-related diseases are forced to deal with these questions, and many others, on a daily basis.

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. As you will note below, we continue making great strides in serving the RYR-1 community and in advancing critically important research.

Highlights of the last 12 months include:

1. ​2022 RYR-1 International Family Conference: We are in the planning stages of the third RYR-1 International Family Conference, which will be hosted on July 22-July 24, 2022, in Pittsburgh, Pennsylvania. To learn more about the RYR-1 International Family Conferences and to watch a short introductory video; please go to the RYR-1 International Family Conferences web page. The RYR-1 Foundation has hosted two Family Conferences (2016 and 2018). There have been a total of 388 attendees, representing 75 RYR-1-affected families from 31 states and eight countries. Although the continued pandemic provides some uncertainty, we are looking forward to hosting another successful conference next summer, hopefully “in person.”
2. RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments: We are excited to announce the first-ever patient-led international research workshop to be hosted by The RYR-1 Foundation. The goal of this workshop is to provide a forum for the leading international RYR-1 experts and a group of patients to share knowledge, exchange ideas, form collaborations, and develop new strategies for finding therapies. Conference directors include selected members of The RYR-1 Foundation’s Scientific Advisory Board and two affected individuals from our Board of Directors and Board of Advisors. The dates of the workshop are July 21-July 22, 2022, in Pittsburgh, Pennsylvania, immediately preceding the 2022 RYR-1 International Family Conference. I am pleased to announce that we have raised $50,000 from 10 donors to support this workshop. Under the leadership of Dr. Robert Dirksen, we are also applying for an NIH grant to help cover the cost of this important meeting. I look forward to keeping you abreast of the agenda for this exciting conference.
3. “Clinical Care Guidelines: What Patients & Families Need to Know About RYR-1-Related Diseases”: As you may recall, The RYR-1 Foundation published the Clinical Care Guidelines (CCG) last Fall. This handbook, made possible by a $50,000 grant from The Oscar and Elsa Mayer Family Foundation, was written exclusively for individuals and families affected by RYR-1-related diseases. The CCG has now been published by The RYR-1 Foundation in the following languages: Arabic, Chinese (Simplified), English, French, German, Russian, Spanish, and Vietnamese. We consider The RYR-1 Foundation to be an international organization with a mission to help all affected individuals and families, especially those in underserved communities. As funds become available, we look forward to translating the CCG into additional languages. All translated versions are now free and available.
4. Research: The support of our donors has been critical to the success we have had in funding important research that has advanced the field of RYR-1-related diseases. From our last call for research proposals, we received grant applications from researchers in nine different countries. These were all high-quality applications, and I was particularly pleased to see that our organization is having an international impact.Based on a critical review of the applications, The RYR-1 Foundation’s Scientific Advisory Board (SAB) and Board of Directors approved three new projects, representing a commitment of $270,000 in new research funding. In addition, I am happy to report that with the recent support of several generous donors, we will likely be initiating the following two additional research projects, led by world-renowned RYR-1 clinician-scientists: 1) “A hot debate: the role of RYR1 in exertional heat-illnesses” – Principal Investigator: Dr. Nicol Voermans (Radboud University, Nijmegen, The Netherlands), and 2) “The prevalence of RYR1-related disease – an international, collaborative multicentre study” – Principal Investigator: Dr. Heinz Jungbluth (King’s College, London, England). With this latest round of research grants, our organization is currently funding over $850,000 of RYR-1 research. Since our inception, we have funded over $1.7 million in research. Once again, this amount and quality of research could not have been achieved without our generous donors. Finally, the genetically engineered mice with severe RYR-1 myopathy that The RYR-1 Foundation created are now the focus of ongoing research in three continents, including North America, Europe, and Australia. I consider it a logistical marvel that we were able to successfully ship a dozen live mice from a lab in New York to a researcher in Queensland, Australia.
5. Rycals: Rycals are a new class of drugs that have shown potential benefits in treating patients with RYR-1-related diseases. I am pleased to report that this trial has demonstrated that this drug was well-tolerated by the trial participants, with no report of serious adverse events. There is also early and preliminary evidence that some subjects demonstrated increased strength while on the drug. In hopes of confirming this, early enrollees in the trial, who received a low dose of the drug, returned to NIH to receive a higher dose. The trial has now concluded, and preliminary results were presented at the annual meeting of the World Muscle Society in September 2021. Lastly, in December 2021, ARMGO Pharma announced it has raised $35 million to progress clinical studies of Rycals.
6. Fundraising: The RYR-1 Foundation has raised over $3.7 million since we launched in 2014. In 2021 alone, we raised almost $500,000. I continue to be extremely grateful to all of our donors for their tremendous support.

​Of course, none of these accomplishments would never have been possible without our donors, Board of Directors, 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.