In short
The ‘European Rare Disease Research Alliance’ (ERDERA) is a European and international partnership co-funded by the European Commission and European Member States under Horizon Europe. This partnership brings together 180 organisations from 36 different countries to improve the health and well-being of the 30 million people living with a rare disease in Europe, by making Europe a world leader in rare diseases (RD) research and innovation. ERDERA builds on the EJP RD program and will support robust patient needs-led research, develop new diagnostic methods and pathways, spearheading the digital transformational change connecting the dots between care, patient data and research, while ensuring strong alignment of strategies in RD research across countries and regions.
Sciensano is involved in 3 Work Packages of ERDERA.
- In task 9.2, Sciensano will conduct a data linkage study to link data from multiple sources of patients with Hirschsprung’s disease. The aim of combining different sources is to learn about the impact of Hirschsprung’s disease on the long-term outcomes of patients, the care and treatments that these patients receive and their effectiveness.
- In task 10.3 Sciensano will develop a method to estimate the socio-economic impact of rare diseases based on real-world data. These insights aim to contribute to better healthcare policy and the appropriate allocation of resources in healthcare.
- As part of work package 23 Sciensano has set up and will continue coordinating the national mirror group (NMG) on rare diseases in Belgium. This NMG will bring together relevant stakeholders in the field of rare diseases research in Belgium. The role of the NMG is to facilitate an exchange with the ERDERA project.
Project description
WP9 / Task 9.2: Advancing Outcome Research in Rare Diseases Through Data Linkage and Real-World Evidence
Work Package 9 focuses on strengthening outcome research in rare diseases by leveraging population-based data and fostering data integration across systems. The objective is to develop a minimal, interoperable dataset, that facilitates the linkage of European Reference Networks (ERNs) with national health and social security data, thereby enabling the generation of meaningful real-world evidence.
This task includes three pilot projects, each targeting a specific area of rare disease research:
- Dravet Syndrome: Evaluate the impact of innovative drug therapies on life expectancy and healthcare costs using linked clinical and administrative data.
- Hirschsprung’s Disease: Pilot a data linkage of national health outcome data to assess long-term patient trajectories and care effectiveness, both in Belgium and in France
- Neonatal Screening (NBS): Develop an AI-ready data module to evaluate the population-level impact of early screening and diagnosis.
Sciensano leads the Belgian pilot on Hirschsprung’s Disease, with the support of data from the Inter-Mutualistic Agency (IMA), the Federal Public Service Health (FOD) and the Belgian Association of Paediatric Surgery (BELAPS). This study aims to generate insights into treatment pathways and long-term outcomes for patients diagnosed with Hirschsprung Disease in Belgium, using linked data from registries and health insurance systems.
The pilot will serve as a key step towards demonstrating the feasibility and value of integrated data approaches in rare disease research. Findings will support the creation of interoperable models for outcome-based policy development and contribute to the broader European agenda for health data harmonization and reuse.
WP10/ Task 10.3: Unveiling the Hidden Burden: Estimating the Socioeconomic Impact of Rare Diseases for Informed Decision Making and Resource Allocation
This task addresses the critical lack of data on the socioeconomic burden of rare diseases in Europe. This gap hinders effective policy and resource allocation. To address this gap, Sciensano will coordinate the development and application of a framework to estimate this impact using real-world data, through three main sub-tasks:
- Data Mapping: Identifies and evaluates rare disease registries across Europe, focusing on their capacity to estimate socioeconomic impact by analysing captured symptoms, quality of life scales, and potential links to healthcare and social security data.
- DALY Calculation: Develops standardised methods for estimating Disability-Adjusted Life Years (DALYs) for rare diseases, informed by literature reviews and stakeholder input. This includes creating consensus disease models, defining Disability Weights (DWs), and potentially incorporating caregiver burden.
- Cost Estimation: Establish harmonised protocols to estimate both direct and indirect costs, including healthcare costs, Years of Life Lost (YLL), and caregiver productivity losses. These are informed by literature, stakeholder consultations, and data linkage strategies.
Standardised protocols will be implemented in participating countries, supported by a stakeholder engagement strategy to promote national adoption and routine socioeconomic impact assessment of rare diseases.
WP23 : National Mirror Groups (NMGs) promotion and national alignment
Work Package 23 is part of the ERDERA (Inter)national Capacity Alignment Workstream (WS) and aims to develop and promote National Mirror Groups (NMGs). NMGs will bring together relevant RD stakeholders, facilitating interactions, collecting comparable information on national RD activities, and generating new knowledge to optimise synergies for greater alignment between NMGs. The NMG will enable bidirectional exchange: on one hand, it ensures that national RD research needs, challenges and priorities are considered in European-level discussions and ERDERA activities, and on the other hand, it will promote the integration of ERDERA’s tools, methodologies, and strategic approaches at the national and local levels. Sciensano has been designated as the leader of the Belgian NMG-RD and will ensure its functioning, supervise the smooth implementation of the planned activities, and will be the national contact point.
The WP23 objectives will be achieved through 3 main tasks :
- Task 23.1 : Fostering creation of NMGs
- Task 23.2 : Deployment and operations of NMGs
- Task 23.3 : Animation of NMGs synergies
