What's New

WE HAVE A $10K MATCH! Please, show your support so BSF can expand support resources for #BarthFamilies, attract researchers to advance science around gene therapy, enzyme replacement, and the use of existing drugs to treat Barth syndrome, collaborate with FDA and industry to bring about more clinical trials in Barth syndrome and improve tools for the 2020 BSF International Conference. Every gift of any amount counts toward the match and helps us reach our goal by August 15! #Breakthroughs4Barth #POWERUPBSF

The BSF 2018 annual report has been published. We made tremendous strides as a community in 2018. Please take time to read and then take time to SHARE the great work BSF is doing including collaborations in research, successful clinical trials and family services. To our beloved supporters and #BarthFamilies, thank you for your ongoing support.

The Human Tafazzin Gene Variants Database has been updated. Note that there are separate tabs for Pathogenic/Likely Pathogenic, Variants of Unknown Significance (VUS), Benign.

Barth Syndrome Foundation finds encouragement in Stealth BioTherapeutics' recent published findings from the Phase 2/3 TAZPOWER OLE study that investigational drug elamipretide may improve functional activity and quality of life in individuals with the rare, life-threatening mitochondrial disease Barth syndrome. Findings from the clinical trial were shared this week at the MDA meeting in Orlando, Fl.

For 16 years, the BSF Research Grant Program has strategically funded research projects to improve the scientific and medical understanding of Barth syndrome, creating a pathway towards potential therapies. The recent 2018 cycle continues to showcase that legacy, a legacy that led directly to the CARDIOMAN clinical trial in 2019 and more than 25 awards from NIH to advance research about Barth syndrome.

Since 2002, the Barth Syndrome Foundation, in consultation with its Scientific and Medical Advisory Board and with the support of the international affiliate chapters (Barth Syndrome Foundation of Canada, Barth Syndrome Trust {UK and Europe}, Association Barth France, and Association Barth Italy), has awarded a total of US $4.9 million to this important effort through 111 research grants to 65 principle investigators worldwide in order to better understand this rare X-linked genetic disease characterized by cardiomyopathy, growth delay, muscle hypoplasia, neutropenia and extreme fatigue.


Powered by Firespring