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Updates from Barth Syndrome Foundation
Barth Syndrome Foundation

BSF Research Portfolio Review

On June 19th in Boston, Barth Syndrome Foundation (BSF) conducted a gathering that included members of BSF’s Board of Directors and the Scientific and Medical Advisory Board (SMAB), as well as four carefully selected outside experts, in order to strategically and tactically evaluate potential therapies for Barth syndrome nearing clinical development. The review meeting was intended to identify specific ways BSF can continue to advance the respective therapeutic ideas which it has helped to fund over the years through its Research Grant Program, made possible by the generous support of our donors. This was the first of what BSF plans will be a continuing series of research review meetings.

Three promising potential new therapies currently in pre-clinical development by three separate research groups were reviewed in depth. Notably, BSF supported through its Research Grant Program the development of each of these potential therapies:

  • Gene Therapy (Drs. Barry Byrne, Christina Pacak and Todd Cade);
  • Enzyme Replacement Therapy (Dr. Michael Chin); and
  • Modifier Gene ALCAT1 (Dr. Roger Shi).

Read greater detail about each of these potential therapeutic areas in the portfolio review summary.


The CARDIOMAN trial, the second clinical trial ever to test a pharmaceutical therapy specifically to treat Barth syndrome, is running a series of successful study days this month in Bristol, UK. CARDIOMAN is evaluating the use of bezafibrate, a drug already approved and used to lower triglycerides, in people with Barth syndrome after a research study in mice demonstrated improvements in heart function and fatigue.

Michaela Damin, Barth Syndrome UK's founder, was inspired by the courage and determination of all the boys and men taking part. "They are incredibly supportive of each other and help each other to find the joy in every moment they get to spend together."

Read the press release about the CARDIOMAN clinical trial -->

Breakthroughs for Barth Challenge

By giving to BSF, you will help improve lives through family support programs and propel potential therapies ahead.

DonatePlease help us TODAY, so next year we can:

  • Expand support programs and resources for existing and new families

  • Attract researchers and clinicians 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

  • Improve tools to further a positive experience for families, researchers, and healthcare providers at the 2020 BSF International Conference

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In July 2020, BSF will celebrate their 20th anniversary and hold the 10th International Scientific, Medical and Family Conference in Clearwater Beach, Florida. Community and collaboration are the building blocks of this global gathering. In addition, significant research accomplishments have been achieved as a direct result of the collaboration of families alongside clinicians and researchers at this biannual meeting. Read our featured community story about the history of the BSF International Conference.

We just published our 2018 Annual Report, and we hope you will take time to read stories from our community and articles describing global research efforts. Click on the image to read the report fullscreen, or download a PDF here. 

2018 Annual Report

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