Background

In keeping with the European Council recommendations, Germany published a National Plan for Rare Diseases (RD) in August 2013, which includes 52 policy proposals to guide and structure actions in the context of rare diseases within the German health and social system. The project OSSE (Open-Source-Registersystem für Seltene Erkrankungen / Open Source Registry System for Rare Diseases), funded by the German Federal Ministry of Health, provides a reusable software for RD registries.

Aim of the Project

OSSE provides patient organizations, physicians, scientists and other parties with open-source software for the creation of patient registries. As a result, the national registry landscape is empowered to comply with European principles regarding the establishment of minimum data sets, the compliance to data quality standards, etc. (summarized in the EUCERD Recommendation on RD registries). In addition, the necessary interoperability between different registries is supported from the start and allows to federate those registries on a national and international level (e.g. distributed searches designed to comply with data protection requirements and preserve data sovereignty).

Concept

In the context of OSSE a minimal data set for rare diseases was developed, which in the meantime has been superseeded by an EU version. This data set should be held by all participating registries to ease and foster findability of as well as data exchange between registries. Disease-specific additions can be collected and made available throughout the federated registries by defining them in a metadata repository (MDR). To meet the requirements of data protection, a template of required patient consent forms is provided along with a generic data protection concept taking into account the specificities of RD. A generic registry software was implemented and is distributed as an open source solution. It enables the handling of forms by providing an editor to read, modify and validate forms. Versioned persistency, secure authentication and an access management system is provided as well.