Rare diseases affect only a few people each, but collectively impact millions of patients. A central challenge is that there is still no comprehensive, valid, and cross-sectoral data base. Information on diagnoses, disease progression, and care situations is often incomplete or not comparable.
Why registries for rare diseases are crucial
Medical registries provide an essential foundation. They pool data, make healthcare visible, and enable research. The impetus for the National Registry for Rare Diseases, NARSE, initiated by the Eva Luise and Horst Köhler Foundation, arose from exactly this gap: To this day, patients are not systematically recorded, and important coding systems such as Orpha coding are barely established, especially in the outpatient sector where most care takes place.
FAIR4Rare: Insights from three years of evaluation
The FAIR4Rare project, funded by the Joint Federal Committee (G-BA) at the Berlin Institute of Health in the Charité (BIH), accompanied the development of NARSE between 2023 and 2026 with scientific evaluation. The final workshop on March 23, 2026, made clear what matters for a registry’s success. At the center is data quality. Only structured and valid data allow for robust analyses—for example, for care analyses or registry-based studies. Experience from existing registries shows this is achievable, but only with considerable effort and clear standards. It was also emphasized that registries do not only serve care but play a key role in research and innovation.
Despite progress in the regulatory environment, fundamental hurdles remain. The most relevant include:
- lack of mandatory Orpha coding in outpatient care
- mainly project-based—and therefore insecure—funding for many registries
- partially unclear legal frameworks and responsibilities
A look at other European countries shows that more binding models are possible. In France, for example, documentation is linked to the funding of centers. Approaches like this highlight how important structural commitment is for the success of registries.
Another key point: Long-term sustainability depends not only on funding but also on trust. Patients must be able to trust that their data is secure and used responsibly. Transparent structures and clear governance are central to this. At the same time, actively involving patients is crucial. They are not just data providers but important partners in further developing registry structures.
NARSE and NUM4Rare: Building a national registry infrastructure
With the integration of NARSE into the NUM4Rare project, a national registry infrastructure is currently being built, bringing together registry data, routine data, and patient-reported data. NARSE is designed as a learning system, continuously evolving. A key requirement for success remains that documentation can be integrated into everyday clinical practice. Only then can broad and sustainable use be achieved.
The foundations for the National Registry are laid. The next steps require clear structural conditions, especially binding coding standards and sustainable funding models. When these prerequisites are met, NARSE can fully develop its potential, contributing in the long term to better care as well as advances in research and innovation.
Special thanks go to everyone involved, especially the team at BIH@Charité, for their great commitment to building sustainable registry structures for rare diseases.
