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）： 这次国际会议的具体目的是确定并提出方法来克服那些临床和科学挑战，这些临床和科学挑战阻碍了寻找针对巴特综合征（BTHS）患者的有效临床疗法的进展。这次会议将通过以下方式解决这些挑战：1）将有关BTH的生物化学，遗传和临床问题汇总到研究其工作的生化，遗传和临床问题； 2）增加与BTH或BTHS个人有关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，并为推进BTH的特定疗法制定议程； 4）提供一个评估这些特定疗法的论坛； 5）促进与BTH相关材料的沟通和发布。该系列中的以前会议预示着重大的科学进步，但仍然难以捉摸的是我们对塔法奇蛋白基因（与BTHS相关的基因）对特定疗法的了解的临床翻译。尽管自上次会议以来已经取得了进展，但对塔法奇素功能障碍如何导致发病率和死亡率的更全面了解。 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具有高通量格式的化合物，并完成了两项运动临床研究。我认为，这些两年一次的会议通过直接鼓励参与的研究人员来加快临床重要进步以及科学成就的时间表。这些会议汇集了可以将积累的研究知识转化为潜在治疗的主要科学家和临床医生，就像批判性的治疗方法一样，他们也可以在危及生命的BTH问题的背景下评估这些治疗方法。除了BSF的科学和医学顾问委员会外，没有其他论坛可以有意义地进行有关治疗思想的坦率和重要讨论。由于BTH的个人每年都死于这种疾病，因此我们需要这些会议来交流/讨论成就，以刺激新的临床和科学进步（卧床床位），并鼓励科学医学界。