Scientific and Medical Conference about Barth Syndrome

关于巴斯综合症的科学和医学会议

• 批准号: 8778601
• 负责人: Matthew J Toth
• 金额: $ 2.6万
• 依托单位: BARTH SYNDROME FOUNDATION
• 依托单位国家: 美国
• 财政年份: 2014
• 资助国家: 美国
• 起止时间: 2014-06-25 至 2015-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8778601
• 关键词: 3-Methylglutaconic aciduria type 2; Address; Ally; Bezafibrate; Biochemical Genetics; Blood; Cardiolipins; Cardiomyopathies; Characteristics; Clinic; Clinical; Clinical Research; Clinical Trials; Collaborations; Communication; Communities; Disease; Exercise; Fostering; Foundations; Functional disorder; Genes; Goals; Health Personnel; Healthcare; Hearing; Heart; Individual; International; Knowledge; Life; Link; Medical; Mission; Morbidity - disease rate; National Heart, Lung, and Blood Institute; Neutropenia; Nutritional Support; Orphan Drugs; Patients; Pharmacologic Substance; Physicians; Population; Publications; Rare Diseases; Replacement Therapy; Research; Research Personnel; Resveratrol; Scientific Advances and Accomplishments; Scientist; Series; Symptoms; Testing; Therapeutic; Translating; Translations; United Kingdom; United States; Update; Vision; Work; abstracting; base; bench to bedside; clinically relevant; enzyme replacement therapy; follow-up; meetings; mortality; patient advocacy group; public health relevance; screening; symposium

DESCRIPTION (provided by applicant): 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.

描述（由申请人提供）： 本次国际会议的具体目标是确定并提出克服那些阻碍寻找针对巴特综合征 (BTHS) 个体的有效临床疗法进展的临床和科学挑战的方法。本次会议将通过以下方式应对这些挑战：1）将致力于 BTHS 生化、遗传和临床问题的医生、医疗保健提供者和科学家聚集在一起，讨论他们的工作； 2) 增加参与 BTHS 或 BTHS 个体的研究人员和医生的数量； 3）促进跨学科讨论，促进工作合作，并制定推进 BTHS 特定疗法的议程； 4）提供一个评估这些具体疗法的论坛； 5）促进BTHS相关材料的传播和出版。本系列之前的会议已经预示了重大的科学进展，但仍然难以捉摸的是如何将我们所了解的 tafazzin 基因（与 BTHS 相关的基因）功能障碍转化为具体的治疗方法。尽管自上次会议以来已经取得了进展，但仍需要更全面地了解他法嗪功能障碍如何导致发病率和死亡率。受到这些每两年一次的科学/医学信息交流的鼓舞，2014 年 BTHS 研究界现在可以指出并更详细地讨论以下临床相关成就/研究：苯扎贝特的孤儿药指定、苯扎贝特和白藜芦醇的临床研究计划、营养疗法、酶替代疗法、心磷脂替代疗法、药理学筛选 高通量形式的化合物，并完成两项运动临床研究。我相信，这些两年一次的会议通过直接鼓励参与的研究人员，加快了临床重要进展和科学成就的进程。这些会议汇集了关键科学家和临床医生，他们可以将积累的研究知识转化为潜在的治疗方法，同样重要的是，他们还可以在 BTHS 危及生命的问题的背景下评估这些治疗方法。除了 BSF 的科学和医学咨询委员会之外，没有其他论坛可以就治疗理念进行坦率而重要的讨论。由于 BTHS 患者每年都会死于这种疾病，因此我们需要这些会议来交流/讨论成就，刺激新的临床和科学进展（从实验室到临床），并鼓励科学医学界。