Taruscio D, Gainotti S, Mollo E, Vittozzi L, Bianchi F, Ensini M, Posada M
National Center for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
Public Health Genomics. 2013;16(6):288-98. doi: 10.1159/000355934. Epub 2014 Feb 3.
Registries are considered key instruments for developing rare disease (RD) clinical research, enhancing patient care and health planning, and improving social, economic and quality-of-life outcomes. Indeed, it is usually the case that no single institution, and in many cases no single country, has sufficient data to provide results that can be applied broadly to clinical and translational research. However, the fragmentation and heterogeneity of the registries, which are often the result of spontaneous initiatives, limit the general applicability of their observations.
An inquiry has been carried out by the EPIRARE, a European Union (EU)-funded project ('Building Consensus and Synergies for the EU Registration of Rare Disease Patients') aiming at paving the way to the creation of a European Platform for RD Registries, by means of an on-line questionnaire among European RD registries on their main activities and needs, the way they deal with methodological, technical and regulatory issues and the way they find resources to carry on their activities.
In spite of the heterogeneity of the European registries, some elements of relevance for an action to improve the situation of patient registries in the EU are apparent. The needs more frequently indicated by registry holders were financial support, motivation of data providers, data quality assessment, improvement of communication and visibility, and extension of collaborations. Moreover, the registry holders were in favor of a common EU platform providing services for RD registries.
It appears that the current situation of the European registries provides the transition towards a more uniform, higher quality and better coordinated approach.
登记处被视为开展罕见病临床研究、加强患者护理和健康规划以及改善社会、经济和生活质量成果的关键工具。实际上，通常情况下，没有任何一个机构，在很多情况下甚至没有任何一个国家，拥有足够的数据来提供可广泛应用于临床和转化研究的结果。然而，登记处的分散性和异质性往往是自发倡议的结果，这限制了其观察结果的普遍适用性。
由欧盟资助的项目EPIRARE（“为欧盟罕见病患者登记建立共识与协同效应”）开展了一项调查，旨在通过在线问卷向欧洲罕见病登记处了解其主要活动和需求、处理方法、技术和监管问题的方式以及获取开展活动所需资源的途径，从而为创建欧洲罕见病登记平台铺平道路。
尽管欧洲登记处存在异质性，但一些与改善欧盟患者登记处状况的行动相关的要素已显现出来。登记处负责人最常提及的需求是资金支持、数据提供者的积极性、数据质量评估、沟通与知名度的提升以及合作的拓展。此外，登记处负责人支持为罕见病登记处提供服务的欧盟共同平台。
欧洲登记处的现状似乎为朝着更统一、更高质量和更协调的方法过渡提供了契机。
