Vittozzi L, Gainotti S, Mollo E, Donati C, Taruscio D
National Center for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
Public Health Genomics. 2013;16(6):299-304. doi: 10.1159/000355935. Epub 2014 Feb 3.
The current situation of rare disease (RD) registries is rather heterogeneous, and new ways to support the registration of RD patients are being sought in the European Union (EU) and the US. The project 'Building Consensus and Synergies for the EU Registration of RD Patients', funded by the EU, aimed to define a model platform for EU RD registries.
A number of surveys and extensive consultations among registry stakeholders have been carried out to study how the platform can best fulfill their needs.
This web-based, multidisease and multipurpose platform is intended to provide a number of functions: a metadata and data repository function supporting the planning of research studies and the production of predefined outputs for the funding organizations and the public, provision of tools and resources of use to registries, promotion of registration and networking among patients and professionals.
Its main impact is expected to be on data and procedures standardization, on the establishment of new registries, on the sustainability of the smaller ones, and on the registration of those RDs for which a dedicated registry is not sustainable, e.g. ultra-rare diseases or diseases for which there is no special research, clinical or economic interest. It will also impact on the production of sounder information on RD and RD-dedicated health systems, by promoting registry data comparability and quality.
罕见病登记处的现状参差不齐，欧盟（EU）和美国正在探寻支持罕见病患者登记的新方法。由欧盟资助的“为欧盟罕见病患者登记建立共识与协同效应”项目旨在为欧盟罕见病登记处确定一个示范平台。
已对登记处利益相关者开展了多项调查并进行了广泛磋商，以研究该平台如何能最好地满足他们的需求。
这个基于网络的、多疾病且多用途的平台旨在提供多项功能：一个元数据和数据存储库功能，支持研究计划以及为资助机构和公众生成预定义产出；为登记处提供实用的工具和资源；促进患者与专业人员之间的登记和交流。
预计其主要影响将体现在数据和程序标准化、新登记处的建立、较小登记处的可持续性以及那些设立专门登记处不可行的罕见病（如超罕见病或没有特殊研究、临床或经济价值的疾病）的登记方面。通过提高登记处数据的可比性和质量，它还将对生成更完善的罕见病及罕见病专用卫生系统信息产生影响。
