Pilot Longitudinal Data Collection to Inform Public Health_Fragile X Syndrome

描述（由申请人提供）：为了响应对脆性X综合征（FXS）患者的结构化纵向临床数据的大规模收集和分析的全面、有组织的方法的明确需求，基础研究所（IBR）、脆性X临床和研究联盟（FXCRC）与哥伦比亚大学和国家脆性X基金会（NFXF）合作，制定了一项系统数据收集计划。管理和分析将在预计于2011年秋季开始的四年供资期内完成。拟议的计划建立在一个协作的、以研究为导向的基础设施上，该基础设施是由CDC之前的合同提供的资金建立的，该合同目前已进入第三年，也是最后一年。在此期间，科学和行政领导为FXCRC招募了21家诊所，建立了领导和委员会基础设施，并利用该基础设施设计了一个广泛的注册和临床数据库系统的内容和结构。该系统随后作为一个安全的基于网络的应用程序实施，允许参与的诊所在获得IRB批准的情况下，获得患者及其家属的同意，以结构化的纸质表格收集信息，这些表格可以输入在线注册和临床数据库。本提案中描述的计划的实现将显著增加具有FXS特征的个体的数量，并增加重要的纵向临床和公共卫生数据的新领域，可用于解决有关这一弱势群体的重要研究问题。

DESCRIPTION (provided by applicant): In response to the clear need for a comprehensive, organized approach to large-scale collection and analysis of structured, longitudinal clinical data for patients with the fragile X syndrome (FXS), the Institute for Basic Research (IBR), the Fragile X Clinical and Research Consortium (FXCRC), partnered with Columbia University and the National Fragile X Foundation (NFXF), have developed a plan for systematic data collection, management and analysis to be achieved during a four-year funding period that is anticipated to begin in the fall of 2011. The proposed plan builds on a collaborative, research-oriented infrastructure that has been built with funding from a previous CDC contract that is now in its third and final year. During this period, the scientific and administrative leadership recruited 21 clinics into the FXCRC, created a leadership and committee infrastructure, and used this infrastructure to design the content and structure of an extensive Registry and Clinical Database system. This system was then implemented as a secure web-based application, allowing participating clinics, with IRB approval, to obtain consent from patients and their families to gather information on structured paper forms that could be entered into the on-line Registry and Clinical Database. Achievement of the plan described in this proposal will significantly increase the number of well- characterized individuals with FXS as well as add important new domains of longitudinal clinical and public health data that can be used to address important research questions regarding this vulnerable population.