Library of Standardized Patient Registry Questions for Rare Diseases

描述(由申请人提供)：本申请涉及广泛的挑战领域(07)：加强临床试验，以及特定的挑战主题，07-OD(ORDR)-101*标准化患者登记问题库。这个应用程序的主要目标是为许多不同罕见疾病的患者登记处开发标准化问题，可用于开发新的登记处和修改现有的登记处。图书馆问题将使用一致的结构和语言，基本数据元素(即问题+答案+定义)将使用数据标准进行编码，这将促进可靠和一致的数据收集，并增加问题重复使用和数据共享的机会。在这个项目中，将利用罕见病研究领域的专家和技术专家的组合来开发与各种罕见病相关的标准化问题的编码库，并计划在更广泛的罕见病研究界实施。在各种问题上一致使用结构和设计特征以及使用数据标准是这一应用程序的主要主题，使用将支持各种罕见疾病之间互操作性的灵活和可扩展的技术也是如此。由于我们正在利用现有的罕见病研究基础设施，调整用于开发问题库的现有工具，以及支持立即实施的传输格式，我们将在两年的供资期间内完成以下工作：开发一个代表5-10种罕见疾病的标准化问题库，实施图书馆项目的几个演示(即创建新的登记册和扩展现有登记册)，为用户开发实施材料和资源以创建新的标准化登记册表格，并为更广泛的罕见疾病研究社区制定访问问题库和支持工具的政策和援助。

DESCRIPTION (provided by applicant): This application addresses broad Challenge Area (07): Enhancing Clinical Trials, and specific Challenge Topic, 07-OD(ORDR)-101* Library of Standardized Patient Registry Questions. The primary objective of this application is to develop standardized questions for patient registries across many different rare diseases, which can be used for developing new registries and revising existing ones. The library questions will use consistent structure and language, and the underlying data elements (i.e., questions + answers + definitions) will be encoded using data standards that will facilitate reliable and consistent data collection and enhance opportunities for question re-use and data sharing. In this project, a combination of domain experts in rare diseases research and technical experts will be used to develop a coded library of standardized questions relevant to various rare diseases, with plans for implementation into the broader rare diseases research community. The consistent use of structural and design features across questions and the use of data standards are strong themes in this application, as is the use of flexible and scalable technologies that will support interoperability between various rare diseases. Because we are leveraging existing infrastructures for rare disease research, adapting existing tools for developing libraries of questions, and transport formats that support immediate implementation, we will complete the following within the two-year funding period: develop a library of standardized questions representing 5-10 rare diseases, implement several demonstrations of the library items (i.e., create new registry and extend existing registry), develop implementation materials and resources for users to creating new standardized registry forms, and develop policy and assistance for access to the questions library and supporting tools for a broader rare disease research community.