January 2020

#Morein2020 starts now! BSF is committed to improving the lives of people with Barth syndrome through research and family support. BSF's 20 year history of developing and supporting research and therapeutics continues with exciting updates and opportunities in actively recruiting and ongoing Barth syndrome research efforts. In addition, BSF received 15 novel research applications in 2019 to study and expand our understanding of Barth syndrome. These applications are currently under SMAB and external review, with awards to be announced in mid-March 2020 – stay tuned!

Led by Jason Shandler (Boston University) and in collaboration with Cindy James and Becky McCellan (JHMI), this study will involve an interview to discuss topics such as dating, relationships, family planning, support networks, and reproduction. Open to affected individuals 18 years and older, this study builds upon our efforts in hearing and communicating the patient’s voice to the broader research community. This study is actively recruiting and open to US and international-based individuals. More information can be found here, and if you are interested in participating, please click here.

Led by Todd Cade (Washington University, St Louis), this effort will assess nutrient metabolism as well as heart and muscle function in boys and young men with Barth syndrome (8-36 years old) who have had a heart transplant. This study is actively recruiting and open to US and internationally-based individuals that are at least one year-post transplant and be stable on heart medications. To learn more about the study, please listen to Dr. Cade's recent related presentation, and if you are interested in participating, please click here.

The first ever clinical trial in Barth syndrome sponsored by Stealth BioTherapeutics and led by Hilary Vernon (JHMI) has completed the randomized control period – where individuals receive either drug or inactive treatment/placebo, then switched after 4 months – and is currently in open-label extension, where all trial participants know they are on drug. The trial began with 12 participants, and 8 individuals are currently participating in open-label extension. In October, we learned that the randomized control trial segment did not meet the original endpoints of improvements in the 6-minute walk test as well as other physiological measures; however, data analysis during the open-label extension found a 27% increase in average cardiac stroke volume, or the amount of blood pumped by the heart’s left ventricle per contraction. The open label extension involving 8 participants will continue with U.S. FDA review occurring later this year. Data analysis is ongoing, with results to be presented during the 2020 BSF Family, Science & Medicine Conference. More information on elamipretide and the study can be found here.

Sponsored by the National Institute for Health Research (NIHR), this study is currently assessing the impact of bezafibrate as a repurposed drug for Barth syndrome. Led by Guido Pieles and Colin Steward, this study is ongoing and conducted out of the Bristol Barth Clinic (UK). Following a similar randomized control process like TAZPOWER, bezafibrate or placebo is given to participants for 4 months, followed by a one month break, and then switched for the following 4 months. The trial will assess the effects of bezafibrate on blood cells, exercise capacity, heart function, and quality of life. Involving 18 individuals affected by Barth syndrome (6 years or older), this trial is fully recruited with the final tests conducted at the end of 2019. Data analysis is ongoing, with results to be presented during the 2020 BSF Family, Science & Medicine Conference. More information on CARDIOMAN can be found here. This trial was heavily guided by basic research funded by BSF and led by Zaza Khuchua (Cincinnati Children’s) and Mindong Ren (NYU).

BSF will be participating in an upcoming NIH meeting, “Workshop on Expanding AAV Manufacturing Capacity for Rare Disease Gene Therapies,” that will be held in Bethesda, MD. As the current adeno-associated virus (AAV) manufacturing capacity has not kept pace with the demand for AAV gene therapy trials, the meeting will bring together thought leaders such as Dr. Barry Byrne and key stakeholders to understand the challenges and identify opportunities to address this key research bottleneck. More workshop details can be found here.

Registration is now open for #BARTH2020, the 10th BSF International Scientific, Medical, and Family Conference, July 20-26, 2020 in Clearwater Beach, FL