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.

项目摘要 本申请旨在申请资助全球临床研究联盟第一次会议， 脊髓小脑共济失调（SCA）。SCA是一组罕见的常染色体显性遗传疾病，其主要 表现为小脑及其传入和传出通路变性引起的共济失调。 基因突变的特征和分子后果的研究提供了深入的 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， 预计在未来几年内会进行临床试验。然而，SCA的低患病率使得临床 由于可用研究受试者数量不足而具有挑战性的研究。全球合作提供 有机会汇集全球携带导致SCA的基因突变的个体人群， 为国际临床试验准备最佳人群。对表型缺乏了解 由于不同种族、种族和地区的遗传和环境差异， 人群是研究受试者分层和生物标志物开发的重要障碍。 我们这次会议的目标是组建一个SCA临床研究的全球联盟，SCA Global。 确定不同国家SCA的临床和遗传特征的异同 这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） 加深我们对不同种族、民族、社会背景的SCA的临床和遗传特征的理解， （2）确定并商定临床评估、脑功能评估和脑功能评估的共同标准。 成像和生物采样;（3）促进SCA中稳健的临床试验的发展;（4）帮助建立 通过促进年轻研究人员的参与，培养共济失调研究的未来领导者;（5） 培训学员与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）的年度会议相吻合。 将于2019年3月27日至29日在拉斯维加斯的火烈鸟酒店举行， 研究人员和患者/家属在我们会议的最后一天。会议的前半部分将 包括现有队列和SCA自然史的数据介绍，下半年将 包括平行工作组会议，以就临床结局评估措施达成共识， 多位点成像方案、标准化生物样品收集、生物标志物测定方案，以及 克服全球不同地区临床研究的不同监管要求的策略。 大约40%的主席/发言人将是妇女，我们将鼓励妇女参与， 西班牙裔调查员和其他代表性不足的少数民族。会议将聚集年轻人 调查人员和资深研究人员提供关于前沿的发人深省的讲座， 科学和临床研究开发。将有足够的时间分配给两个结构化的 由同行领导的讨论以及非正式讨论和社交互动，以促进协作。