Abe is one of just 130 children and young adults in the U.S. (and less than 250 people worldwide) currently living with Barth syndrome, an ultra-rare, life-threatening, genetic disease. We are honored to share this family’s video highlighting their personal experience and the hope they hold for Abe’s future.
NEEDHAM, MA - June 14, 2023 -- Stealth BioTherapeutics Inc. (the "Company" or "Stealth BioTherapeutics"), a clinical-stage biotechnology company focused on the discovery, development, and commercialization of novel therapies for diseases involving mitochondrial dysfunction, today provided key takeaways from a presentation by Reenie McCarthy, the Company’s Chief Executive Officer, at the World Orphan Drug Congress USA, held May 23-25 in Washington, D.C. In the presentation, entitled “Opportunities and Challenges in Ultra-Rare Drug Development,” McCarthy referenced the Company’s Barth syndrome development program as a case study to highlight the need for new incentives and differentiated ultra-rare regulatory pathways to reduce health inequities faced by patients with ultra-rare diseases. Barth syndrome is an ultra-rare disease that affects approximately 250 people worldwide. The Company recently announced its partnership with Pharmanovia to advance its Barth syndrome program in Europe and MENA.
“We stand by our commitment to the Barth syndrome community to deliver the first potential treatment option for this ultra-rare and life-threatening cardio-skeletal disease,” said McCarthy. “We have experienced firsthand the unique clinical, regulatory, and financial challenges of developing new medications for ultra-rare diseases. By sharing our learnings with regulators, policymakers, other drug developers and patient advocacy, we hope to ensure that people living with ultra-rare diseases can have a fighting chance at treatments that enable them to live healthier lives.”
@StealthBT highlights new incentives and differentiated regulatory pathways to reduce health inequities faced by ultra-rare disease communities Tweet
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Key points from the presentation included:
Given the challenges faced by ultra-rare disease drug developers and the significant unmet need faced by patients living with these conditions, innovative incentives and policies should be put in place to motivate industry support of ultra-rare therapeutic development. Reforms proposed during the presentation included:
“With 85 percent of affected individuals dying before the age of five, the Barth syndrome community is keenly aware of the severe cost of delaying treatment or denying an approval,” stated McCarthy. “For these individuals – and those with other ultra-rare diseases – we need creative solutions to drive innovation.”
About Barth Syndrome
Barth syndrome is an ultra-rare genetic condition characterized by cardiac abnormalities often leading to heart failure and reduced life expectancy, exercise intolerance, muscle weakness and fatigue, recurrent infections, and delayed growth. Barth syndrome occurs almost exclusively in males and is estimated to affect one in 200,000 to 400,000 individuals worldwide. There are currently no FDA- or EMA-approved therapies for patients with Barth syndrome.
The Company is a clinical-stage biotechnology company focused on the discovery, development, and commercialization of novel therapies for diseases involving mitochondrial dysfunction. Mitochondria, found in nearly every cell in the body, are the body's main source of energy production and are critical for normal organ function. Dysfunctional mitochondria characterize a number of rare genetic diseases and are involved in many common age-related diseases, typically involving organ systems with high energy demands such as the eye, the neuromuscular system, the heart and the brain. The Company has a deep pipeline of novel mitochondria-targeted compounds under evaluation as therapeutic product candidates.
Anna Stallmann Communications
1. NORD Avalere Report: ORPHAN DRUGS IN THE UNITED STATES: An Examination of Patents and Orphan Drug Exclusivity, 2021.
2. FDA does not define “ultra-orphan”; in Europe, it is considered to apply to diseases with a prevalence of <1 in 50,000, National Institute for Clinical Excellence. NICE Citizens Council Report Ultra Orphan Drugs. London, NICE, 2004.
3. Ritu Baral, Testimony at 2 28 2023 Rare Disease Congressional Caucus (at 21:50).
4. Yates, Hinkel, Clin Transl Sci. 2022.
5. Isakov et al., MIT.edu, 2016; Janiaud et al., Annals of Internal Medicine, 2021.