The 1st SCA Global Conference

第一届SCA全球会议

• 批准号: 9763231
• 负责人: TETSUO ASHIZAWA
• 金额: $ 2万
• 依托单位: METHODIST HOSPITAL RESEARCH INSTITUTE
• 依托单位国家: 美国
• 财政年份: 2019
• 资助国家: 美国
• 起止时间: 2019-03-15 至 2019-12-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9763231
• 关键词: Address; Afferent Pathways; Area; Ataxia; Biocompatible Materials; Biological Assay; Biological Markers; Brain imaging; Cerebellar degeneration; Chairperson; Characteristics; Clinical; Clinical Investigator; Clinical Research; Clinical Treatment; Clinical Trials; Clinical assessments; Collaborations; Collection; Complement; Consensus; Country; DNA Sequence Alteration; Data; Databases; Development; Disease; Efferent Pathways; Equilibrium; Europe; Family; Foundations; Funding; Future; Genetic; Genetic study; Goals; Heterogeneity; Hispanics; Image; Individual; International; Knowledge; Low Prevalence; Measures; Medical Genetics; Molecular; Movement; Multi-Institutional Clinical Trial; Natural History; Optimum Populations; Oral; Outcome Assessment; Pathogenicity; Patients; Phenotype; Population; Procedures; Protocols documentation; Quality Control; Readiness; Research; Research Personnel; Scientific Advances and Accomplishments; Social Interaction; Speech; Spinocerebellar Ataxia Type 4; Spinocerebellar Ataxias; Standardization; Stratification; Structure; Study Subject; Testing; Therapeutic; Therapeutic Intervention; Therapeutic Trials; Time; Training; Underrepresented Minority; United States; Woman; Work; base; biobank; biomarker development; cohort; data sharing; imaging study; innovation; lectures; meetings; motor disorder; next generation; peer; pre-clinical; programs; racial and ethnic; repository; research and development; social; sound; symposium; therapeutic development; translational approach; virtual; working group

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.

项目概要 本申请旨在为全球临床研究联盟第一届会议申请资金 脊髓小脑性共济失调（SCAs）。 SCA 是一组罕见的常染色体显性遗传疾病，其主要特征是 表现为小脑及其传入和传出通路退化引起的共济失调。 基因突变的表征和分子后果的研究提供了深入的研究 了解越来越多 SCA 的致病机制。治疗干预 基于科学前提和严格的临床前数据正在出现，并进行了预期的测试 预计未来几年将进行良好的临床试验。然而，SCAs 的低患病率使得临床 由于可用研究对象数量不足，研究具有挑战性。全球合作提供 有机会汇集全球携带导致 SCA 的基因突变的个体 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 人群是研究对象分层和生物标志物开发的重大障碍。 我们本次会议的目标是组建一个 SCA 临床研究全球联盟，即 SCA Global。 识别不同 SCA 临床和遗传特征的异同 人群将是未来全球临床试验的第一步。为了实现我们的目标，我们将：（1） 完善我们对不同种族、民族、社会的 SCA 临床和遗传特征的理解 和区域人口； (2) 定义并商定临床评估、脑功能的通用标准 成像和生物采样； (3) 促进 SCA 中稳健的临床试验的开展； (4)帮助建立 通过促进年轻研究人员的参与，成为共济失调研究的未来领导者； (5) 带来 学员与 SCA 患者及其家人接触。 第一届 SCA 全球会议将与国家共济失调基金会 (NAF) 年会相配合 将于2019年3月27日至29日在拉斯维加斯火烈鸟酒店举行，让 在我们会议的最后一天，研究人员和患者/家属。大会上半场将 包括现有队列数据和 SCA 自然史的介绍，下半年将 包括平行工作组会议，以就临床结果评估措施达成共识， 多位点成像方案、标准化生物样本采集、生物标志物测定方案以及 克服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/发言人将是女性，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。大会将汇聚年轻一代 研究人员和资深研究人员就前沿领域发表了发人深省的讲座 科学和临床研究的发展。将为这两个结构分配充足的时间 由同行主导的讨论以及非正式讨论和社会互动以促进合作。