Expected Outcome

This topic aims at supporting activities that are enabling or contributing to one or several expected impacts of destination “Tackling diseases and reducing disease burden”. To that end, proposals under this topic should aim to deliver results that are directed at, tailored towards and contributing to all the following expected outcomes:

• The EU is reinforced as an internationally recognised driver of research and innovation in Rare Diseases (RD) and thereby substantially contributing to the achievement of the Sustainable Development Goals related to rare diseases.
• Research funders align, adopt and implement their RD research policies allowing for the optimal generation and translation of knowledge into meaningful health products and interventions responding to the needs of people living with a rare disease across Europe and globally.
• The RD research community at large benefit from and use an improved comprehensive knowledge framework and cross-border FAIR [1] data access and analysis, including rare diseases registries, by integrating the EU, national/regional data and information infrastructures to improve translational research.
• People living with a rare disease, including those from underrepresented communities, benefit from a more timely, equitable access to innovative, sustainable and high-quality healthcare including novel diagnosis and treatments, taking stock of highly integrated research and healthcare systems.
• Researchers, innovators -as well as people living with a rare disease and their advocates (as co-creators)- effectively constitute and operate into an integrated research and innovation ecosystem to deliver cost-effective diagnosis and treatments.
• Public and private actors, including civil society (e.g. Non-Governmental Organisations, charities), establish coordinated and efficient multi-stakeholder collaborations at EU and national (including regional) levels, allowing for more effective clinical research, for example aiming at improved success rates of therapeutic development.

Scope

This topic targets an action under Article 24(2) HE Regulation aiming to add additional activities to existing grant agreements, together with additional partners (if relevant) that would deliver on those activities. The award of a grant to continue the partnership in accordance with this call should be based on a proposal submitted by the coordinator of the consortium funded under topic HORIZON-HLTH-2023-DISEASE-07-01: “European Partnership on Rare Diseases” and the additional activities (which may include additional partners) to be funded by the grant should be subject to an evaluation. Taking into account that the present action is a continuation of the topic HORIZON-HLTH-2023-DISEASE-07-01: “European Partnership on Rare Diseases” and foresees an amendment to an existing grant agreement, the proposal should present the additional activities (including additional partners) to be covered by the award primarily in terms of grant agreement revisions. The existing action, the “European Rare Diseases Research Alliance” (ERDERA) can only reasonably be enhanced and enlarged on the basis of the existing consortium [2] , as the co-funded framework established cannot simply be replaced without significant disruption, given the top-quality, long-term expertise and wide coverage of the beneficiaries comprising this consortium. The proposal should thus present the specific additional activities (including, if relevant, additional partners) foreseen for the second instalment of the partnership. The partnership should continue to contribute to priorities of the communication “On effective, accessible and resilient health systems” (COM(2014) 215 final) [3] , the “Communication from the Commission on enabling the digital transformation of health and care in the Digital Single Market; empowering citizens and building a healthier society” (COM(2018) 233 final) [4] , the "Council conclusions on the Future of the European Health Union: A Europe that cares, prepares and protects" (9900/24) [5] and support the objectives of the EU4Health Programme (2021-2027) [6] . This partnership should also contribute to achieving the objectives of the Pharmaceutical Strategy for Europe [7] , in terms of fulfilling unmet medical needs and catalysing the clinical development of medicines for rare diseases (i.e. “orphan medicinal products”) and ensuring that the benefits of research and innovation reach patients in the EU and the Associated Countries. Moreover, the partnership is expected to contribute and align with the objectives of the Directive 2911/24/EU on the application of patients’ rights in cross-border healthcare [8] and of the European Health Data Space (EHDS) [9] . Thanks to its capacity to bring together different stakeholders (e.g. research funders, health authorities, healthcare institutions, innovators, policymakers), the partnership will strengthen the European Research Area and consolidate the European research and innovation ecosystem with a critical mass of resources, and implement a long-term Strategic Research and Innovation Agenda (SRIA) [10] . The co-funded European Partnership on Rare Diseases should be implemented based on the priorities identified in the SRIA and through a joint programme of activities ranging from coordinating and funding transnational and clinical research to highly integrative and community-driven ‘in-house’ activities such as innovation strategies for the efficient exploitation of research results, EU clinical trial preparedness activities, optimisation of research infrastructures [11] and resources, including networking, training and dissemination activities. To this end, proposals are expected to build on the first phase of this partnership and should be structured along the following main objectives:

• Launch joint transnational calls for RD research and innovation actions, aligned with SRIA priorities, to fund patient-need-driven research across Europe, ensuring effective cross-border collaboration and scalability, while demonstrating short, medium and long-term impact and value creation through financial support to third parties and a rigorous monitoring strategy of research outputs.
• Further establish, strengthen and develop the different components of a European Clinical Research Network (CRN) to boost clinical trial readiness and capacity to readily implement well-coordinated multi-national clinical studies on rare diseases, building on the European Reference Networks (ERNs). The partnership is expected to showcase the CRN’s contribution to the cost-effective therapeutic development and decrease in diagnostic timelines linked with improvement in health outcomes ensuring durable collaboration among research, clinical, and regulatory actors.
• Advance and consolidate the capacity building of the RD data ecosystem by supporting interoperable and/or federated cross-border access and analysis of FAIR research and healthcare data, including rare disease registries, ensuring ongoing their usability more efficient translational and clinical research, including regulatory science. The relevant European research infrastructures in the area of health should be exploited for available services, expertise and digital tools for the management and analyses of FAIR health data, as appropriate.
• Integrate basic, pre-clinical, clinical and implementation research to streamline the Research and Innovation (R&I) continuum and minimise redundancies, ensuring lasting impact on the quality of life of the people living with a rare disease while strengthening systemic efficiency and cost-effectiveness. To that end, the partnership should mobilise a significant investment to spur innovation, by aligning regional, national and European R&I priorities and improving EU competitiveness in R&I.
• Support research and innovation across key intervention areas (prevention, diagnosis, treatment), and promote the sustainable uptake of existing health innovations in clinical practice through coordinated training, implementation research, and active stakeholder engagement.
• Contribute to and align with the International Rare Disease Research Consortium (IRDiRC) [12] to reinforce Europe’s global leadership, ensure policy coherence, and sustain long-term strategic alignment beyond the lifetime of the partnership. To that end, an optimised assessment of the European contribution to IRDiRC would be beneficial to ensure complementarity and avoid overlaps. This topic requires the effective contribution of social sciences and humanities (SSH) disciplines and the involvement of SSH experts, institutions as well as the inclusion of relevant SSH expertise, in order to produce meaningful and significant effects enhancing the societal impact of the related research activities. Collaboration with the European Commission's Joint Research Centre (JRC) should be considered to materialise the sharing of (meta)data regarding registries for rare diseases, exchanging data for clinical studies and research based on a unified pseudonymisation tool provided by the European Platform on Rare Disease Registration (EU RD Platform) and related tools and services, as well as in other areas of mutual interest, such as training and capacity building. null The total indicative budget for the topic is EUR 91.3 million committed in annual instalments over the two years, 2026 and 2027 (EUR 48.7 million from the 2026 budget and EUR 42.6 million from the 2027 budget). [1] See definition of FAIR data in the introduction to this Work Programme part. [2] Consortium which was awarded the grant under topic HORIZON-HLTH-2023-DISEASE-07-01: “European Partnership on Rare Diseases”. [3] https://health.ec.europa.eu/publications/communication-commission-com2014-215-final_en [4] https://health.ec.europa.eu/publications/commission-communication-com-2018-233_en [5] https://www.consilium.europa.eu/en/press/press-releases/2024/06/21/european-health-union-council-calls-on-commission-to-keep-health-as-a-priority [6] https://commission.europa.eu/funding-tenders/find-funding/eu-funding-programmes/eu4health_en [7] https://health.ec.europa.eu/medicinal-products/pharmaceutical-strategy-europe_en [8] https://eur-lex.europa.eu/eli/dir/2011/24/oj/eng in particular articles 12 and 13 respectively on European Reference Networks (ERNs) and rare diseases [9] https://health.ec.europa.eu/ehealth-digital-health-and-care/european-health-data-space-regulation-ehds_en [10] https://erdera.org/strategic-research-innovation-agenda-sria [11] The relevant European research infrastructures in the area of health should be exploited for available services, expertise and digital tools for dataset creation, standardisation, data discovery, secure access, management, visualisation, harmonisation, analysis and other functions as appropriate. The catalogue of European Strategy Forum on Research Infrastructures (ESFRI) research infrastructures portfolio can be browsed on the ESFRI website: https://ri-portfolio.esfri.eu [12] https://irdirc.org