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*标准化患者注册问题库。该应用程序的主要目标是为许多不同罕见疾病的患者登记开发标准化的问题，这些问题可用于开发新的登记和修改现有的登记。库问题将使用一致的结构和语言，底层数据元素（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，并增加问题重用和数据共享的机会。在这个项目中，罕见病研究领域的专家和技术专家将联合起来开发一个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。跨问题一致地使用结构和设计特征以及使用数据标准是本应用程序的重要主题，使用灵活和可扩展的技术将支持各种罕见疾病之间的互操作性。由于我们正在利用现有的基础设施进行罕见病研究，调整现有的工具来开发问题库，以及支持立即实施的传输格式，我们将在两年的资助期内完成以下工作：开发一个包含5-10种罕见疾病的标准化问题库，对图书馆项目进行若干演示（即创建新的注册表和扩展现有的注册表），为用户开发实施材料和资源，以创建新的标准化注册表，并为更广泛的罕见病研究界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.