SUDEP Research Alliance: Clinical Network Core; Application 2 of 7

 描述(由申请人提供)：SRA合作网络汇集了各自独特的项目，这些项目通过一个共同目标联系在一起，即将研究发现快速转化为SUDEP诊断、风险检测和预防的临床实践。到目前为止，还没有一个专门针对SUDEP高危人群的有组织的临床网络。此外，缺乏统一的临床监测算法来对SUDEP风险I患者群体进行分层，允许与脑形态计量学研究和遗传调查进行深入的相关性分析，并为过早癫痫死亡率的模型系统提供信息。因此，我们提出了一个由四个主要组成部分组成的临床网络核心(SRA-CNC)：(1)儿科临床网络(PCN)，旨在招募、生理监测和收集受Drave氏综合征影响的儿童的样本；(2)成人临床网络(ACN)，专注于基于癫痫、心律失常和呼吸功能障碍的组合表型的高SUDEP风险成人患者；(3)分析中心，负责对人类数据进行生理、形态测量和流行病学评估，以及(4)数据集成和存储。SRA-cnc将履行四项主要职能：(1)建立基础设施、后勤和监管支持，并为病例确定、生理监测和数据收集的范围和模式以及生物标本的采购执行标准作业程序；(2)它将为(I)临床和流行病学数据、(Ii)发作、心脏和呼吸生理学以及(Iii)基于成像的形态测量提供以问题为重点的专家分析；(3)它将优化资源利用，促进参与中心之间的数据交换、分析和沟通；(4)SRA-CNC将以公众教育和循证建议的形式将研究程序转化为临床实践。

 DESCRIPTION (provided by applicant): The SRA collaborative network brings together individually unique projects linked by a common goal of rapid translation of research discoveries into clinical practice of SUDEP diagnosis, risk detection and prevention. Until now, there has not been an organized clinical network specifically focused on individuals at high risk for SUDEP. Moreover, there is a lack of unified clinical monitoring algorithms that will stratify SUDEP risk i patient population, allow in-depth correlative analysis with brain morphometric studies and genetic investigations, and inform model systems of premature epilepsy mortality. We therefore propose a Clinical Network Core (SRA-CNC) that consists of four principal components: (1) a Pediatric Clinical Network (PCN) aimed at recruitment, physiological monitoring, and sample collection in children affected by Dravet syndrome, (2) an Adult Clinical Network (ACN) focused on high SUDEP risk adult patients based on the combined phenotype of epilepsy, cardiac arrhythmias and respiratory dysfunction, (3) Analysis Center entails physiological, morphometric, and epidemiological evaluations of the human data, and (4) Data integration and storage. The SRA-CNC will perform four main functions; (1) It will establish infrastructure, logistical and regulatory support and implement standard operating procedures for case ascertainment, scope and mode of physiological monitoring and data collection, and procurement of biological specimens; (2) it will provide problem focused expert analysis of the (i) clinical and epidemiological data, (ii) ictal, cardiac, and respiratory physiology, and (iii) imaging based morphometry; (3) It will optimize resource utilization and facilitate data exchange, analysis, and communication among participating centers; and (4) SRA-CNC will translate investigational procedures into clinical practice in the form of public education and evidence driven recommendations. The Clinical Network Core is an essential component of the proposed SUDEP Center Without Wall piloted by the investigators of SUDEP Research Alliance as it will inform and facilitate current and future research translational projects in humans and i the individualized model systems.