Pilot Longitudinal Data Collection to Inform Public Health_Fragile X Syndrome

描述(由申请人提供)：针对对大规模收集和分析脆性X综合征(FXS)患者结构化纵向临床数据的明显需求，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、管理和分析计划，预计将在2011年秋季开始的四年资助期内实现。拟议的计划建立在一个协作性的、以研究为导向的基础设施之上，该基础设施是用CDC之前的一份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，科学和行政领导层招募了21家诊所加入FXCRC，建立了领导和委员会基础设施，并利用该基础设施设计了广泛的登记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网络应用程序实施，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，收集关于结构化纸质表格的信息，这些信息可以输入在线注册和临床数据库。该提案中描述的计划的实现将大大增加FXS患者的数量，并增加可用于解决与这一弱势群体有关的重要研究问题的纵向临床和公共卫生数据的重要新领域。

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.