The 1st SCA Global Conference

项目摘要 本申请书旨在申请资助第一届全球联盟的临床研究会议。 脊髓小脑性共济失调(SCA)。SCA是一组罕见的常染色体显性遗传病，其主要特征是 表现为小脑及其传入和传出通路的变性引起的共济失调。 基因突变的特征和对分子后果的研究提供了深入的 了解越来越多的SCA的致病机制。治疗性干预 基于科学前提和严格的临床前数据，正在涌现出预期的测试 预计未来几年将进行合理的临床试验。然而，SCA的低患病率使临床 由于可用的研究对象数量不足，研究具有挑战性。全球协作提供 汇集全球携带导致SCA基因突变的个体群体的机会 为国际临床试验的最佳人群做好准备。对表型缺乏了解 由于不同民族、种族和地区的遗传和环境差异而产生的异质性 人口是研究对象分层和生物标记物开发的重要障碍。 我们这次会议的目标是组建一个全球SCA临床研究联盟，SCA Global。 明确不同类型SCA临床和遗传特征的异同 人口将是迈向未来全球临床试验的第一步。为了达到我们的目标，我们将：(1) 加深我们对不同种族、民族、社会的SCA的临床和遗传学特征的认识 和区域人群；(2)定义和商定临床评估的共同标准 成像和生物采样；(3)促进SCA中强有力的临床试验的发展；(4)帮助建立 通过促进年轻研究人员的参与，促进共济失调研究的未来领导者；以及(5)带来 培训学员与SCA患者及其家属接触。 本次首届SCA全球大会将与全国共济失调基金会(NAF)年会相衔接。 将于2019年3月27日至29日在拉斯维加斯弗拉明戈酒店举行，允许 调查人员和患者/家属在我们会议的最后一天。会议的前半部分将 包括介绍关于现有群组和SCA自然历史的数据，后半部分将 由平行的工作组会议组成，以就临床结果评估措施达成共识， 多点成像方案、标准化生物样本采集、生物标志物分析方案，以及 应对全球不同地区临床研究不同监管要求的策略。 大约40%的主席/演讲者将是女性，我们将鼓励 西班牙裔调查人员和其他代表性不足的少数族裔。这次会议将聚集年轻人 研究人员和资深研究人员将就前沿问题发表引人入胜的演讲 科研和临床研究发展。将为这两种结构分配充足的时间 由同行领导的讨论，以及非正式讨论和社会互动，以促进合作。

Project Summary This application is to request funding for the 1st conference of a global consortium for clinical research on spinocerebellar ataxias (SCAs). SCAs are a group of rare autosomal dominant disorders whose principal manifestation is ataxia caused by degeneration of the cerebellum and its afferent and efferent pathways. Characterization of genetic mutations and studies of molecular consequences have provided in-depth understanding of the pathogenic mechanisms of an increasing number of SCAs. Therapeutic interventions based on the scientific premise and rigorous preclinical data are emerging with anticipated testing in sound clinical trials expected in the next few years. However, the low prevalence of SCAs makes clinical studies challenging due to insufficient number of available study subjects. Global collaborations provide opportunities to pool worldwide populations of individuals carrying genetic mutations that cause SCAs to prepare for optimal populations for international clinical trials. The lack of understanding of phenotypic heterogeneity due to genetic and environmental differences in different ethnic, racial, and regional populations is a significant hurdle for stratifications of study subjects and biomarker development. Our goal for this conference is to assemble a global consortium for clinical studies of SCAs, SCA Global. Identifying similarities and differences of clinical and genetic characteristics of SCAs in different populations will be the first step toward future worldwide clinical trials. To achieve our goal we will: (1) refine our understanding of clinical and genetic characteristics of SCAs in different racial, ethnic, social and regional populations; (2) define and agree on common standards for clinical assessment, brain imaging and biosampling; (3) facilitate development of robust clinical trials in SCAs; (4) help establish future leaders of ataxia research by facilitating the involvement of young investigators; and (5) bring trainees into contact with SCA patients and their families. This 1st SCA Global Conference will dovetail the annual meeting of the National Ataxia Foundation (NAF) to be held at the Flamingo Hotel in Las Vegas from March 27-29, 2019, allowing interaction between investigators and patients/families on the last day of our conference. The first half of the conference will include presentations of data on existing cohorts and natural history of SCAs, and the second half will consist of parallel working group sessions to reach consensus on clinical outcome assessment measures, multisite imaging protocols, standardized biosample collections, protocols of biomarker assays, and strategies to overcome diverse regulatory requirements for clinical studies in different global regions. Approximately 40% of chairperson/speakers will be women and we will encourage participation of Hispanic investigators and other underrepresented minorities. The conference will gather young investigators and established senior researchers to deliver provoking lectures on the cutting-edge of scientific and clinical research development. There will be ample time allocated for both structured discussions led by peers and for informal discussion and social interactions to facilitate collaboration.