ERN-EuroBloodNet contributes to discussions on data quality and real-world evidence at SSIEM 2026
Dr María del Mar Mañú Pereira, Scientific Coordinator of the ERN-EuroBloodNet, presented the work of HLM4RARE Working Group 6 on the use and quality of rare disease data
The Society for the Study of Inborn Errors of Metabolism (SSIEM) held its 2026 Scientific Symposium, Next Generation Metabolic Medicine, in Helsinki from 25 to 28 August 2026. The meeting brought together experts working across inherited metabolic disorders and related areas.
During the symposium, Dr María del Mar Mañú Pereira, Scientific Coordinator of ERN-EuroBloodNet and coordinator of HLM4RARE Working Group 6 (WG6), presented the work and vision of the group on real-world evidence and the use and quality of rare disease data.
Her presentation drew on the experience of the RADeep Network to explore how European cross-border infrastructures can generate quality-validated data and real-world evidence (RWE) to support rare disease research and innovation. It also addressed the challenges of moving from successful pilot projects towards sustainable data infrastructures.
Key messages from her presentation:
- Rare disease data are not a small version of big data. Their complexity and heterogeneity need to be understood and addressed from the start.
- Federation is the endpoint, not the starting point. Models need to be developed and validated on well-curated data before being deployed across federated nodes.
- We have enough pilots. What is missing is scale. The next step is to consolidate what works and build sustainable data infrastructure that can serve rare disease research in the long term.
- Quality is designed in, not recovered afterwards. Data quality needs to be defined from day one, aligned to the EMA Data Quality Framework and the EHDS quality and utility label.
HLM4rare WG6 focuses on ensuring that rare disease data across Europe meets the highest standards. By boosting real-world evidence generation, we are accelerating biomarker discovery and providing the evidence needed to support faster drug development and regulatory approval for rare therapies. With the goal of strengthen the role of European Reference Networks as data stewards and evidence facilitators, and the integration of OrphaCodes into national Health Systems.