April 5, 2024 – The Barth Syndrome Foundation (BSF), the only patient advocacy organization dedicated to Barth syndrome and saving lives around the world through education, advances in treatments and finding a cure, today recognizes the second annual Barth Syndrome Awareness Day. Barth syndrome is an ultra-rare, life-threatening, genetic disease primarily affecting males. Currently, there are no FDA-approved treatments. The FDA's recent decision to review a New Drug Application (NDA) for elamipretide in Barth syndrome represents a significant step forward in addressing the critical unmet needs of patients suffering from this devastating, progressive condition.
Congressman Paul Tonko (D-NY-20) introduced H.Res.1025, with Congressmen Gus Bilirakis (R-FL-12), Ralph Norman (R-SC-5), Lori Trahan (D-MA-3), Joe Wilson (R-SC-2), Sharice Davids (D-KS-3), Joe Neguse (D-CO-2), James McGovern (D-MA-2), Doris Matsui (S-CA-7), Jeff Duncan, (R-SC-3), and Morgan McGarvey (D-KY-3) as co-sponsors, to recognize April 5 as Barth Syndrome Awareness Day and highlight the need for increased awareness, improved diagnosis, new therapies for this disease, and regulatory pathways for ultra-rare drug development.
“We are tremendously grateful to Representative Tonko and the co-sponsors of the Barth Syndrome Awareness Day resolution for amplifying the voices of our ultra-rare disease community and highlighting that we are not too rare to care about,” said Emily Milligan, Executive Director of BSF. “We are hopeful that raising awareness about the life-threatening and quality-of-life-limiting nature of Barth syndrome, and the unique regulatory challenges that we and other ultra-rare disease communities face, will help bring about enhanced collaboration and accelerated positive change. Americans need a regulatory and policy environment that supports innovation and access to treatments for all, no matter how rare their medical conditions are. As FDA reviews a potential new treatment for our patients, we continue to call for a fair, appropriate and equitable approach that recognizes both the serious nature of Barth syndrome as well as our very small patient numbers.”
Globally, there are only about 300 patients alive with Barth syndrome, with a little less than half living in the United States. Barth syndrome is caused by a mutation in the TAFAZZIN gene, also called G4.5, which results in an inborn error of phospholipid metabolism, Many systems of the body are affected in Barth syndrome, which is characterized by cardiac abnormalities often leading to heart failure and reduced life expectancy, recurrent infections, muscle weakness and delayed growth. Barth syndrome can be fatal in childhood due to heart failure or uncontrollable infection, with approximately 25% of deaths occurring by age 2½, 45% by age 18, and 75% by age 30. Those who survive to adulthood not only have a reduced life expectancy but also a diminished quality of life as they typically experience debilitating fatigue and increasingly compromised health, with aspects that can become life-threatening with little or no warning.
If you have Barth syndrome or know someone who does, we encourage you to participate in Barth Syndrome Awareness Day by clicking any or all of the following ways:
- Ask your US Representative to cosponsor H.Res.1025
- Write to the FDA to advocate for a fair, equitable and appropriate review
- Create a video to share your Barth syndrome story
- Change your profile picture on social media
- Share your story on social media
Learn more about Barth Syndrome Awareness Day and how to get involved here.
ABOUT BARTH SYNDROME FOUNDATION (BSF)
Barth Syndrome Foundation and our international affiliates comprise the only global network of families, healthcare providers, and researchers solely driven by the mission to save lives through education, advances in treatments and finding a cure for Barth syndrome. Considered a role model in rare disease advocacy, BSF has funded $6.6M USD and catalyzed over $37.7M USD in funding from other sources to advance global scientific discoveries to end the suffering and loss of life from Barth syndrome. Additionally, BSF provides a lifeline to families and individuals living with Barth syndrome around the world, offering individualized support, educational conferences, a patient registry and collaborations with specialist healthcare providers to define standards of care, treatment and rapid diagnosis.
