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. Learn More...
Inconsistencies in the FDA’s approach to operationalizing the 21st Century Cures Act stand to treat individuals with Barth syndrome qualitatively differently from those with other diseases, such as Alzheimer’s, and points to a critical need for consistent application of patient perspectives in the review process across agency divisions and regulators.
The Severe Chronic Neutropenia International Registry (SCNIR or Registry) maintains a database on the infectious complications and other serious health events for patients enrolled in the Registry. Since the epidemic began in February 2020, 15 patients with positive antibody tests have reported to the Seattle office about their illness and complications. Most of the cases occurred between February 2020 and February 2021, with the highest frequency in September to November 2020. The age range was broad, 2-62 years; the average was 29 years. There were 9 females and 8 males.
Barth Syndrome Foundation is a global facilitator for advancing understanding of and developing treatments for Barth syndrome.
Let's stay in touch. Sign up for our email newsletter and we'll keep you up-to-date on all the work BSF is doing. We promise to never share your e-mail address with others.
Powered by Firespring