This press release was provided by the Sudden Arrhythmia Death Syndrome Foundation (SADS), a Patient Worthy partner organization.
Key facts:
● Externally-led patient-focused drug development meeting (EL-PFDD) with FDA hosted by Sudden Arrhythmia Death Syndromes Foundation (SADS) held virtually on June 20, 2023.
● Recording of the entire meeting, patient photos, and patient videos available.
● Adjunct scientific meeting was held on July 20, 2023, where experts drew clinical insights to inform clinical research priorities
● ARVC (Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia) causes five to 20% of heart-related deaths in people under 35. The exact prevalence of ARVC is unknown but is estimated to be between 1 in 5,000 to as high as 1 in 2,000 people. There is no cure for ARVC/D and no treatment that stops progression.
● Most ARVC patients, especially those who present at young ages, are high-level athletes. Exercise is a common trigger of arrhythmias and sudden death in ARVC patients.
● Program included live discussion with patient panels, pre-recorded patient testimonials and remarks by:
○ Chinwe Okoro, MD, FDA
○ Hugh Calkins, MD, Director, Johns Hopkins ARVC Program
○ Harikrishna Tandri, MBBS, Professor of Medicine, Vanderbilt University
○ Genevie Echols, Family Support Director, RCIS, Family Support Director, Sudden Arrhythmia Death Syndromes Foundation (SADS)
The Sudden Arrhythmia Death Syndromes Foundation (SADS) hosted a virtual externally-led patient-focused drug development meeting (EL-PFDD) with the U.S. Food and Drug Administration (FDA) on Tuesday, June 20, 2023. The meeting was designed to educate the FDA and other key stakeholders including patient advocates, drug developers, and healthcare providers on the patient’s perspective about the challenges of living with Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D) with the limited therapies available today.
Patient-Focused Drug Development was initiated to provide the FDA with patient experiences to inform the agency’s determinations in weighing the benefits and risks of new therapies.
The SADS Foundation hosted an adjunct scientific meeting on July 20, 2023 where key experts interpreted the patient testimonials provided during the SADS EL-PFDD into clinical insights that can be used to help design clinical trials based around the needs of the patient population.
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia is a genetic disease of the heart muscle. While many ARVC patients do not show any symptoms, the condition is responsible for five to twenty percent of heart-related fatalities among individuals under the age of 35. Current estimates suggest that ARVC may affect anywhere from 1 in 5,000 to as high as 1 in 2,000 individuals. Most ARVC patients, especially those who present at young ages, are high-level athletes. Exercise is a common trigger of arrhythmias and sudden death in ARVC patients.
People with ARVC often experience ventricular tachycardia that leads to syncope, heart failure, or sudden cardiac arrest. The disease is progressive, leading to the need for a heart transplant in some patients.
There is currently no treatment option available that targets ARVC directly. While certain therapies, such as the administration of beta-blocker medication or the implantation of a cardioverter defibrillator (ICD), manage some symptoms associated with the disease, they do not halt the progression toward heart failure.
“What are the therapies we have for reducing structural progression? Not a lot. If you look at ARVC patients who are young, there is a gradual reduction in function, so it is very important to address this,” says Harikrishna Tandri, MBBS, Professor of Medicine, Vanderbilt University.
Current therapies bring additional complications and side effects including delivering multiple electric shocks to the heart, 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 like avoiding endurance exercise and competitive sports.
“As I approach my 30th birthday this month, I find myself reflecting more than ever on the future of my disease,” says Courtney West, who lives with ARVC, in a video presentation shown to members of the FDA at the SADS EL-PFDD meeting. “Will I be able to carry a child? If I can, is it worth the potential progression of my disease? And do I feel comfortable potentially passing this disease down to a child, knowing all that comes with it? When will my next defibrillator shock be? Will I need a heart transplant?”
“Current therapies for ARVC don’t stop disease progression, are sometimes invasive, and have negative side-effects,” says Genevie Echols, Family Support Director,
RCIS, Sudden Arrhythmia Death Syndromes Foundation (SADS).
“We are thrilled that for the first time, the FDA and medical product developers, clinicians, and academic researchers will hear directly from patients and their families about living with ARVC. By centering real-life experiences with the disease, more effective therapies can be developed that help people live their lives to the fullest,” Echols continues.
The virtual SADS EL-PFDD meeting included live discussion panels with ARVC patients and caregivers, ten pre-recorded 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.
“Patients are uniquely positioned to inform regulatory agencies and to provide understanding of the burden of the disease,” Chinwe Okoro, MD, FDA said. “We would like to hear what patients look for in an ideal treatment to manage their condition. This will help inform the focus of new medical products development, and future clinical trials.”
An adjunct scientific meeting on July 20th included speakers and an internationally-recognized expert panel that 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.
The SADS EL-PFDD was generously sponsored by Pfizer, Lexeo Therapeutics, Rejuvenate Bio, Rocket Pharma, and Tenaya Therapeutics.
About Sudden Arrhythmia Death Syndromes Foundation (SADS):
Established in 1991 by Dr. Michael Vincent, The Sudden Arrhythmia Death Syndromes Foundation (SADS) is a community of families, medical professionals, and supporters saving lives and advancing care for people with heart arrhythmia conditions that can lead to sudden death. Sudden Arrhythmia Death Syndromes (SADS) are genetic heart conditions that can cause sudden death in young, apparently healthy people. These conditions can be treated and deaths can be prevented.
Warning Signs for SADS conditions include: family history of unexpected, unexplained sudden death under age 40; fainting or seizure during exercise, excitement or startle; consistent or unusual chest pain and/or shortness of breath during exercise.
