Gene Therapy
At the 2018 BSF conference, the topic of gene therapy generated an enormous amount of interest. Although still under development, the promise of gene replacement therapy as a viable treatment for Barth syndrome is slowly being realized. Learn more about gene therapy and BSF’s role in advancing research on gene therapy for Barth syndrome on the new webpage entitled, "Gene Replacement Therapy for Barth Syndrome" on BSF's website.
At the “Potential Therapies” session of the 2018 BSF conference, Dr. Christina Pacak presented the pre-clinical (before human) work that describes in detail how gene therapy is going to be used to treat Barth syndrome individuals. This 30-minute presentation provides an excellent overview of the gene replacement strategy where the idea is to add a functional human tafazzin gene to Barth syndrome individuals.
BSF is honored to support remarkable research being completed by research pioneers and leaders Drs. Pacak, Cade, and Byrne. Dr. Byrne was a featured speaker at a recent joint NIH-FDA meeting concerning gene therapy for rare diseases where he used BSF as an example of how organizations are pushing the development of gene therapy for their communities. Watch Dr. Byrne’s 20-minute presentation for more information.
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A recently published paper by Drs. Khuchua, Strauss, and colleagues highlights the potential of using bezafibrate for treating Barth syndrome individuals. Using a mouse model of Barth syndrome, the authors treated the mice with bezafibrate which improved heart function and by using daily exercise, endurance was also improved. There is much more to this paper, but with the CARDIOMAN trial beginning, this publication reinforces the promise of this old drug for our community.
