ADVERTISEMENT
The SADS Foundation: Patient-Focused Drug Development for Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Heralds a New Chapter in Patient Advocacy
© 2023 HMP Global. All Rights Reserved.
Any views and opinions expressed are those of the author(s) and/or participants and do not necessarily reflect the views, policy, or position of EP Lab Digest or HMP Global, their employees, and affiliates.
EP LAB DIGEST. 2023;23(12):27-28.
Anna Goodson, Communications Director; Genevie Echols, RCIS, Family Support Director; and Alice Lara, RN, BSN, CEO; Sudden Arrhythmia Death Syndromes (SADS) Foundation, Salt Lake City, Utah
As the premier nonprofit organization for sudden arrhythmia death syndromes (SADS), including long QT syndrome, catecholaminergic polymorphic ventricular tachycardia, Brugada syndrome, arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D), Wolff-Parkinson-White, Timothy syndrome, and short QT syndrome, the SADS Foundation leads the way in education, research, and advocacy for families at risk for genetic cardiac arrhythmias. With the commitment of researchers, medical professionals, and families, our vision is to prevent the untimely death of young people through family support and empowerment, community awareness, cutting-edge medical intervention, and innovative research.
SADS Educates the US Food and Drug Administration (FDA) on Living With ARVC/D Through Externally-Led Patient-Focused Drug Development Meeting
The SADS Foundation hosted a virtual externally-led patient-focused drug development meeting (EL-PFDD) with the US FDA on June 20, 2023.1 The meeting was designed to educate the FDA and other key stakeholders, including patient advocates, drug developers, and health care providers on the patient’s perspective about the challenges of living with ARVC/D with the limited therapies available today.
Additionally, the SADS Foundation hosted an adjunct scientific meeting2 on July 20, 2023, where key experts interpreted the patient perspectives provided during the SADS EL-PFDD into clinical insights that can be used to help ensure clinical trials and therapy development best support the needs of the patient.
ARVC is a genetic disease of the heart muscle. While some ARVC patients do not show any symptoms, the condition is responsible for 5%-20% of heart-related fatalities among individuals under the age of 35. Current estimates suggest that ARVC may affect anywhere from 1 in 5000 to as high as 1 in 2000 individuals.
Patients with ARVC often experience ventricular tachycardia that leads to syncope or sudden cardiac arrest. In some cases, they may develop heart failure. The disease is progressive, leading to the need for a heart transplant in a small percentage of patients.
There is currently no treatment option available that targets ARVC directly. While certain therapies, such as the administration of beta-blockers, the implantation of a cardioverter-defibrillator (ICD), and catheter ablation manage some symptoms associated with the disease and prevent sudden cardiac death, they do not halt the progression toward heart failure; 49% of those living with ARVC develop heart failure.
Current therapies bring additional complications and side effects, including ICD shock storms, fatigue, dizziness, and potential impact on the health of other organs. Individuals and families often experience mental health challenges as they grapple with numerous uncertainties surrounding the condition and sometimes drastic lifestyle alterations, such as avoiding endurance exercise and competitive sports.
The virtual SADS EL-PFDD meeting included live discussion panels with ARVC patients and caregivers, 10 prerecorded stories from patients living with ARVC, as well as live remarks from Chinwe Okoro, MD, FDA; Hugh Calkins, MD, Director, Johns Hopkins ARVC Program; and Harikrishna Tandri, MBBS, Professor of Medicine, Vanderbilt University.
According to Chinwe Okoro, MD, patients are in a unique position to inform regulatory agencies such as the FDA to provide understanding of the burden of the disease. They encourage feedback from patients about an ideal treatment to manage their condition. This will help inform the focus of new medical products, development, and future clinical trials.
The adjunct scientific meeting on July 20, 2023, featured an internationally recognized expert panel including Hugh Calkins, MD, Johns Hopkins Medicine; Mario Delmar, MD, PhD, NYU Langone; Brittney Murray, MS, CGC, Johns Hopkins Medicine; Samuel F. Sears, Jr, PhD, East Carolina University; Wojciech Zareba, MD, PhD, University of Rochester; and Michael Ackerman, MD, PhD, Mayo Clinic. This meeting highlighted the significant insights gained from patients during the SADS EL-PFDD meeting. Using the testimonials provided by affected families and individuals during the EL-PFDD, experts reviewed the unmet needs, gaps in knowledge, and areas where research can have the most significant impact on the quality of life of patients with ARVC.
Experts agreed that ARVC is a disease that goes beyond pathophysiology or biologic outcomes. The symptoms associated with PVCs and other arrhythmic events impose both physical and mental burdens on patients. Experts also acknowledged that the enormous mental health toll that anxiety and depression extracts from ARVC patients is vastly underappreciated in the medical community. They cited evidence demonstrating that due to the many ambiguities of this disease, one-third of individuals living with ARVC are living with clinically significant psychological distress.
The SADS EL-PFDD and Adjunct Scientific Meeting were sponsored by Pfizer, Lexeo Therapeutics, Rejuvenate Bio, Rocket Pharmaceuticals, and Tenaya Therapeutics.
SADS Enters a New Chapter in Patient Advocacy With Advancement of Clinical Trials, Gene Therapies for Cardiac Arrhythmia Conditions
The EL-PFDD for ARVC is just one of the new initiatives that the SADS Foundation has implemented in response to the new therapies and treatments emerging for the cardiac arrhythmia conditions represented at SADS.
The SADS Foundation continues to be the go-to source of information for families with inherited channelopathies and cardiomyopathies surrounding new treatments and therapies. New challenges lie ahead as research and new therapies progress, and SADS will continue to be a fierce advocate for families.
During the past few years, the SADS Foundation has significantly expanded its patient base, including a 43% increase in ARVC patients. SADS has also extended its presence across virtual platforms, reaching an audience of over 714,000 people in 2022. This growth has put the SADS Foundation in a unique position to connect patients with emerging research opportunities and to ensure that patients receive the educational resources needed to make decisions about whether entering a clinical trial is right for them. SADS launched a campaign at the end of 2022 to begin assessing patients’ needs and gaps in knowledge, beginning with genetic testing.
Through a comprehensive initiative aimed at improving both patient and health care provider understanding of the critical importance of genetic testing for arrhythmia patients, in collaboration with organizations including Global Heart Hub and the CardioGenomic Testing Alliance, SADS has created a new section of its website dedicated to providing health care professionals with the most up-to-date clinical recommendations regarding cardiogenetic testing.3
New cardiogenetic testing resources also allow SADS to assist health care providers in accessing genetic testing for their patients. Cardiogenetic testing is the standard of care for patients with inherited cardiac arrhythmias, and SADS is now positioned to help health care providers with this critical step to their patients.
SADS has also surveyed its patient database to obtain information on the percentage of families who have undergone genetic testing. Ninety-four percent of patients who responded to the survey had received genetic testing, primarily because their health care provider had suggested it. Most of those who had received genetic testing (67%) had a positive test result. SADS also learned that the majority of patients had not undergone cascade genetic testing for their extended family, and that almost half of those with positive genetic test results had received their testing over 6 years ago. SADS’ goal is to now facilitate proper testing and counseling for those patients who have not yet received genetic testing and connect with those who may require additional family testing or retesting.
The SADS Foundation’s expanded Family Support Program and associated resources allow SADS to support both patients and physicians in making sure that families with cardiac arrhythmia conditions are receiving standard of care treatment and the social support needed to live and thrive with their condition. SADS Foundation has developed new mental health resources (https://sads.org/mental-health-resources/) for cardiac arrhythmia patients—a critical unmet need heard from both patients and physicians—as well as grief resources (https://sads.org/grief-and-loss-resources/). SADS also offers an ICD Support Group (https://www.sads.org/what-now/support-groups/icd-support-group/) and support groups for each individual condition, as well as a support group for children and teens with SADS conditions.
As new therapies, including gene therapy, become available for SADS conditions, the SADS Foundation is more committed than ever to providing the support and education that affected families need to navigate the decisions before them. From support groups and one-on-one support, to developing new, expanded educational resources, this is an era of great excitement and change—and SADS continues to lead the way in patient education.
For more information, please visit:
https://sads.org/
Twitter/X: https://twitter.com/SADSFoundation
Disclosure: The authors have completed and returned the ICMJE Form for Disclosure of Potential Conflicts of Interest. They report no conflicts of interest regarding the content herein.
References
1. SADS Externally-led Patient Focused Drug Development. SADS Foundation. Published June 20, 2023. Accessed October 5, 2023. https://sads.org/research/get-involved/elpfdd/
2. SADS EL-PFDD Adjunct Scientific Meeting. SADS Foundation. Published July 20, 2023. Accessed October 5, 2023. https://sads.org/research/get-involved/adjunctscientificmeeting/
3. Cardiogenetic testing is standard of care for people with SADS conditions. SADS Foundation. Published July 20, 2023. Accessed October 5, 2023. https://sads.org/cardiogenetic-testing-is-standard-of-care-for-people-with-sads-conditions/
