Data Management and Coordinating Center: Rare Diseases Clinical Research Network

项目总结/摘要 罕见疾病（RD）和疾病共同影响约2500万美国人。研发研究 和护理面临共同的挑战，包括：1）对病因学的认识不足， 疾病的病理生理学、自然史和流行病学; 2）不充分或不 统一的病例定义和疾病分类系统， 流行病学评估困难; 3）对多种疾病的决定因素了解不足 表型以及遗传变异与表型表现之间的关系; 4） 病例稀少和地域分散，妨碍获得合格的护理， 参与研究; 5）缺乏临床证明的、安全有效的治疗方法;以及6） 对研发研究和治疗的私人投资不足。在美国，罕见病 2002年法案授权罕见病研究办公室推荐研究议程 促进科研项目间的协调与合作。罕见病 临床研究联盟（RDCRC），包括罕见病临床研究 网络（RDCRN）推进RD的诊断、管理和治疗， 临床试验准备。RDCRN数据管理和协调中心（DMCC）必须 在临床研究中提供最先进的信息学，统计学和流行病学专业知识 研究设计和数据管理技术和流程，以保证 产生可以支持临床和转化研究进展的证据 (CTR)从I期到III期试验，再到标准临床实践中的采用。到 为了实现在整个RDCRN中增强临床试验准备的目标，我们将建立 辛辛那提儿童学校和辛辛那提大学的DMCC，具体如下 目的：1）：推进RD CTR的方法和实践; 2）开发和维护 研发CTR的前沿共享知识库;以及3）将RDCRN建立为 全球连接的资源，用于提高整个研发生态系统的研发CTR。我们预计 通过促进合作和试验准备，让患者参与， 家庭，并通过采用学习，为RDCRN创建“团队精神”， 系统原则。我们提议的DMCC将世界一流的专业知识， 出色的基础设施、最先进的技术和热情的机构支持。这 获胜的组合将加速整个网络的科学发现和理解， 这将带来新的治疗方案，最终转化为改善健康， 为全球RD患者及其家人提供健康服务。

Project Summary/Abstract Rare diseases (RD) and disorders collectively affect about 25 million Americans. RD research and care face common challenges, including: 1) insufficient knowledge about the etiology, pathophysiology, natural history and epidemiology of the diseases; 2) inadequate or non- uniform case definition and disease classification systems that make diagnosis and epidemiologic assessment difficult; 3) insufficient understanding of the determinants of multiple phenotypes and the relationships between genetic variance and phenotypic manifestations; 4) rarity and geographic dispersion of cases that hampers both access to qualified care and participation in research; 5) a dearth of clinically proven, safe and effective treatments; and 6) inadequate private investment into RD research and treatment. In the U.S., the Rare Diseases Act of 2002 authorizes the Office of Rare Disease Research to recommend a research agenda and promote coordination and cooperation among research programs. The Rare Diseases Clinical Research Consortia (RDCRC) that comprise the Rare Diseases Clinical Research Network (RDCRN) advance the diagnosis, management, and treatment of RDs to enhance clinical trial readiness. The RDCRN Data Management and Coordinating Center (DMCC) must provide state-of-the-art informatics, statistical and epidemiological expertise in clinical research study design and data management technology and processes, in order to guarantee the production of evidence that can support the progression of clinical and translational research (CTR) from Phase I through Phase III trials to adoption within standard clinical practice. To achieve the goal of enhancing clinical trial readiness throughout the RDCRN, we will establish the DMCC at Cincinnati Children’s and the University of Cincinnati with the following Specific Aims: 1): To advance the methods and the practice of RD CTR; 2) To develop and maintain a leading-edge, shared knowledge base for RD CTR; and 3) To establish the RDCRN as a globally connected resource for improving RD CTR across the entire RD ecosystem. We expect to accomplish these Aims by promoting collaboration and trial readiness, engaging patients and families, and creating an “Esprit de Corps” for the RDCRN, through the adoption of Learning System principles. Our proposed DMCC brings a unique combination of world-class expertise, outstanding infrastructure, state-of-the-art technology and enthusiastic institutional support. This winning combination will accelerate scientific discovery and understanding across the network, which will bring new treatment options to trial, ultimately translating into improved health and wellness for RD patients and their families worldwide.