The objectives of this meeting series are: 1) to bring together all the principal physicians and scientists working internationally on the major biochemical, genetic and clinical questions about Barth syndrome, 2) to foster interdisciplinary discussion, to promote working collaborations and to help set the agenda for future research that focuses on finding treatments for Barth syndrome, 3) to provide a forum for an in-depth evaluation of strategies for the treatment of Barth syndrome so that effective and specific therapy(s) can be suggested, tested clinically, and implemented if found promising, and 4) to promote the communication and publication of material directly relevant to Barth syndrome. Previous meetings on this topic have heralded several significant scientific advances, but linking the dysfunction of the tafazzin gene with some of the pathologies of this rare X-linked genetic disease has proven elusive. A more comprehensive understanding of how tafazzin dysfunction leads to the symptoms of Barth syndrome is still needed to encourage ideas for improving the clinical outcome for these individuals. Cardiomyopathy and neutropenia are the main causes of morbidity and mortality in Barth syndrome, and clinical advancements in these particular areas will be of immediate and long term benefit to these patients as well as to the larger patient populations with similar pathologies. Invigorated by these exchanges of scientific/medical information, the Barth syndrome research community is nearing a translational research point where specific therapeutic options are possible, where potential pharmacological compounds can be screened for, and where clinical trials may eventually be proposed. We expect that these meetings will serve to help satisfy these unmet medical needs.
Individuals with an orphan disease such as Barth syndrome have few allies in finding a treatment or a cure for their affliction. Disease advocacy groups, like Barth Syndrome Foundation Inc., have realized that advancement towards this goal is possible by encouraging quality scientific and medical meetings. These meetings enhance and disseminate the progress made towards finding a specific treatment for Barth syndrome which may advantageously impact other more populated medical conditions with similar symptoms.
