The specific aims of this international conference are to identify and suggest ways to overcome those clinical and scientific challenges that are hindering progress in finding effective clinical therapies specific for Barth syndrome (BTHS) individuals. This conference will address these challenges by: 1) bringing together the physicians, healthcare providers, and scientists working on the biochemical, genetic, and clinical questions about BTHS to discuss their work;2) increasing the number of researchers and physicians involved with BTHS or BTHS individuals;3) fostering interdisciplinary discussion, promoting working collaborations, and setting the agenda for advancing specific therapies for BTHS;4) providing a forum to evaluate these specific therapies;and 5) promoting the communication and publication of BTHS related material. Previous conferences in this series have heralded significant scientific advances, but what remains elusive is the clinical translation of what we know about the dysfunction of the tafazzin gene (the gene linked with BTHS) into specific therapies. Though progress has been made since the last Conference, a more comprehensive understanding of how tafazzin dysfunction leads to the morbidity and mortality is still needed. Invigorated by these biennial exchanges of scientific/medical information, for 2014 the BTHS research community can now point to and discuss in more detail the following clinically-relevant accomplishments/studies: the orphan- drug designation of bezafibrate, the plans for clinical studies with bezafibrate and resveratrol, nutritional therapy, enzyme replacement therapy, cardiolipin replacement therapy, screening of pharmacological compounds in a high throughput format, and the completion of two exercise clinical studies. I believe that these biennial Conferences have accelerated the timeframe of clinically important advancements as well as scientific accomplishments by directly encouraging the researchers involved. These meetings bring together the key scientists and clinicians who can translate the accumulated research knowledge into potential treatments, and just as critically, who also can evaluate these treatments in the context of the life-threatening problems of BTHS. Aside from the Scientific and Medical Advisory Board of the BSF, there is no other forum where frank and important discussion about therapeutic ideas can meaningfully take place. Because BTHS individuals die each year from this disease, we need these conferences to communicate/discuss accomplishments, to stimulate new clinical and scientific progress (bench to bedside), and to encourage the scientific-medical community.

Public Health Relevance

Individuals with an orphan disease such as Barth syndrome have few allies in the quest to find a treatment or a cure for their affliction. Patient advocacy groups, like the Barth Syndrome Foundation Inc., have realized that one of the ways towards obtaining this goal is by encouraging scientific and medical meetings. High-quality meetings or conferences about Barth syndrome stimulate, enhance, and disseminate the progress made towards finding a treatment which will positively impact other medical conditions. (End of Abstract)

National Institute of Health (NIH)
National Heart, Lung, and Blood Institute (NHLBI)
Conference (R13)
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Special Emphasis Panel (ZHL1-CSR-Q (M2))
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Schramm, Charlene A
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Barth Syndrome Foundation
United States
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