Rare Disease Moonshot’s contribution to the Call for Evidence on the EU Life Science Strategy

Our submission on the call for evidence on the new Strategy for European Life Sciences can be found here.

The Rare Disease Moonshot welcomes the European Life Sciences Strategy (LSS) as a transformative opportunity to position the European Union (EU) as a global leader in life sciences by anchoring rare disease research as a strategic priority. This contribution outlines a roadmap to align rare disease innovation with the EU’s competitiveness, proposing concrete actions that harness public-private partnerships (PPPs), regulatory science innovation, and robust data infrastructures to advance research and deliver patient-centered outcomes. Rare diseases, by nature of their complexity and unmet needs, represent a crucial frontier for innovation. The EU already possesses the building blocks—world-class research, public funding frameworks, industrial partnerships, and a strong regulatory foundation. However, translating scientific breakthroughs into accessible treatments remains limited by fragmented regulation, underdeveloped PPP mechanisms, and suboptimal deployment infrastructures. The LSS presents a timely opportunity to address these gaps by elevating rare disease research within the EU’s strategic agenda.

A core recommendation is to embed rare diseases in the strategy. This includes establishing dedicated funding streams under Framework Programme 10 for translational research, advanced therapies, and regulatory science. Funding should go beyond discovery to ensure the long-term viability of innovations through deployment in healthcare systems. A performance-based funding model would ensure investments translate into meaningful patient and economic outcomes, while aligning Europe’s competitiveness with urgent healthcare needs.

Rather than isolated initiatives, PPPs must be systemically integrated into EU funding instruments PPPs should be embedded as a foundational element of the EU's research and innovation ecosystem. This approach encourages collaboration across academia, industry, and patient groups, aligning public research with private sector expertise delivering regulatory outcomes of the benefits to patients. Early-stage collaboration, incentivized through matched funding or risk-sharing models, is key to accelerating innovation. Earlier discussions Intellectual Property (IP) negotiations and pre-competitive frameworks can reduce friction, build trust, and ensure continuity across the development pipeline.

A truly competitive EU life sciences ecosystem must also prioritise the rare disease R&D environment’s ability to derisk research in white spots—those neglected, under-researched conditions with no treatment, no translational capacity nor diagnostic testing, and therefore where scientific insights are most urgently needed. Targeted investments and the support towards specialised and sustainable infrastructures are necessary to address these gaps and generate breakthroughs for rare and ultra-rare or poorly understood diseases. The LSS should explicitly support ecosystem-building efforts that integrate multidisciplinary expertise, enable rapid knowledge sharing, and foster cross-border collaboration to systematically identify and close these research white spots.

In parallel, the EU needs a clinical trial environment that is comprehensively supportive—adaptively, financially, logistically, and regulatorily. Rare disease trials face unique challenges, including small patient populations, complex endpoints, and cross-border recruitment barriers. The strategy must ensure simplified trial authorization procedures, mutual recognition of ethics approvals, and interoperable digital platforms for patient enrolment and data sharing. Incentivising the use of adaptive and decentralized trial designs, along with improved support for investigators and trial sites, will foster a trial-ready ecosystem that accelerates rare disease treatment development.

Digital technologies and data are enablers of this transformation. The European Health Data Space (EHDS) can unlock harmonized, high-quality data for research and regulation. Ensuring access to regulatory-grade datasets and cross-border interoperability is essential to improve trial design, patient recruitment, and data-driven decision-making. Unified governance frameworks should protect privacy while enabling secure, ethical, and impactful use of data in rare disease research, especially in view of the increasing use of AI in health.

The Life Sciences Strategy must foster synergies with other planned initiatives and legislation, such as the EU Biotech Act, to accelerate the translation of R&D into products and treatments for rare diseases.

Strengthening alignment across different initiatives proposed under the current Commission mandate is essential to ensure a coherent regulatory framework that avoids fragmentation and supports the faster deployment of innovative therapies across Europe.

To overcome some of these challenges, the Rare Disease Moonshot proposes the creation of a regulatory science platform to support all stakeholders—from academia to small and medium-sized enterprises (SMEs)—through early design of studies to the approval and reimbursement process. This platform would support research communities in the design and use of innovative approaches, such adaptive trial designs, integrate the use of real-world data and advanced analytics for evidence generation in regulatory decision-making, enabling more flexible, patient-centered pathways while foster alignment with regulatory expectations. To further foster the EU’s leadership, the Rare Disease Moonshot stresses the need for international collaboration. Aligning EU regulatory standards with international best practices, while engaging in joint initiatives with international research consortia, can amplify the EU’s impact and accelerate innovation. By drawing from successful PPP models worldwide, the EU can design better policies, enhance scientific credibility, and scale up patient impact.

In conclusion, the Rare Disease Moonshot calls for a coordinated effort to place rare disease research at the heart of the EU’s Life Sciences Strategy. Systematic PPP integration, regulatory reform, digital infrastructure, and a clinical trial ecosystem tailored to the complexities of rare diseases will not only accelerate treatments but also secure the EU’s leadership in life sciences. This is the moment to act. The Rare Disease Moonshot stands ready to collaborate with EU institutions and stakeholders to ensure rare diseases are no longer a side note, but a flagship priority shaping the EU’s innovation landscape.

----

The European Life Sciences Strategy (LSS) presents a crucial opportunity to harness the European Union (EU) ’s strengths in research, innovation, and regulatory excellence to address some of the most pressing healthcare challenges, including rare disease research and the deployment of its outcomes in healthcare. The Rare Disease Moonshot supports the objectives of the LSS, and this response outlines our recommendations to integrate rare disease research into the broader life sciences framework, create a clinical trial environment that is comprehensively supportive—adaptively, financially, logistically, and regulatorily, leveraging public-private partnerships (PPPs), fostering regulatory innovation and support, strengthening workforce on technical topics and with soft skills to build and sustain the competence to partner and enhancing investment mechanisms to sustain innovation in this critical field.

A truly competitive EU life sciences ecosystem must also prioritise the rare disease R&D environment’s ability to unlock research white spots—those neglected, under-researched conditions with no treatment, no translational capacity nor diagnostic testing, and therefore where scientific insights are most urgently needed. The LSS should explicitly support ecosystem-building efforts that integrate multidisciplinary expertise, enable rapid knowledge sharing, and foster cross-border collaboration to systematically identify and close these research white spots to address the gaps and generate breakthroughs for rare and ultra-rare or poorly understood diseases.

The EU is uniquely positioned to lead the world in rare disease research and innovation— because of future potential, and existing structures, funding instruments, and partnerships that are already in motion. These recommendations will not only drive scientific progress but also create long-term economic and healthcare benefits, reinforcing Europe’s competitiveness in the life sciences sector.

Anchoring Rare Disease research within the European Life Sciences Strategy to unlock research on white spots, diseases with no research, no translational capabilities nor therapeutic or diagnosis solutions

It is important that the European Life Sciences Strategy explicitly prioritise rare diseases as a strategic area of investment and innovation. Despite Europe’s strong research base, the continent lags in translating scientific advancements into accessible therapies for rare disease patients. Given the high unmet medical need and the potential for technological breakthroughs in areas such as gene therapy and personalized medicine, rare diseases must be central to Europe’s life sciences competitiveness. The strategy should:

• Recommend the adoption of an EU Rare Disease Action Plan to promote synergies across healthcare, industrial and research policies, and support drug development and access.
• Ensure that the upcoming legislative frameworks include dedicated funding streams, regulatory support, and sustainable deployment mechanisms for rare disease innovation.

Possible concrete actions:

• • Launch a European Action Plan on Rare Diseases
• Prioritise a truly competitive European life science ecosystem for the rare disease research and development (R&D) environment’s ability to unlock research on white spots—those neglected, under-researched conditions with no treatment, no translational capacity nor diagnostic testing, and therefore where research and scientific evidence are most urgently needed. The LSS should explicitly support ecosystem-building efforts that integrate multidisciplinary expertise, enable rapid knowledge sharing, and foster cross-border collaboration to systematically identify and address research white spots.

Possible concrete action:

• • Create a Strategic Coordination Mechanism between DG RTD, DG SANTE, and DG GROW to monitor deployment of rare disease innovations into healthcare systems across Member States.
• Expand Framework Programme 10 funding to provide grants for translational research, advanced therapy development, and regulatory science initiatives that align with the needs of the rare disease community. To ensure sustainability and maximize impact, funding must be directly linked to the deployment and long-term sustainability of outcomes generated through PPPs (such as ERDERA, IHI-funded projects or JARDIN). This means integrating funding mechanisms that support not only initial research but also research impacting the regulatory approval, market access, and long-term viability of innovation emerging from PPP initiatives such as sustainable robust data strategies. Additionally, establishing performance-based funding models will help ensure that investments translate into real-world solutions that improve patient care and strengthen the EU ’s leadership in rare disease innovation.

Possible concrete actions:

• • Establish a European White Spot Research Fund under FP10 focused specifically on diseases with no therapeutic or diagnostic pathway. This fund would support the creation of interdisciplinary consortia, including patients, to map and fill knowledge gaps.
  • Mandate long-term deployment planning in EU-funded rare disease projects (e.g. FP10, IHI) via sustainability clauses and market readiness benchmarks.
• Embed rare disease research within the broader competitiveness agenda, the EU ensures that scientific advancements contribute to economic growth while addressing urgent patient needs.

Possible concrete actions:

• • Include rare diseases as a key pillar in the Competitiveness Compass annual scoreboard and reporting.
  • Incentivize Member States to align national RD priorities with EU competitiveness tools through cohesion policy instruments.

Enhancing Public-Private Partnerships for Rare Disease Innovation

PPPs have been instrumental in accelerating research and development in the rare disease field, examples arise from Innovative Medicines Initiatives (and now Innovative Health Initiative)-funded projects, such as Screen4Care, EU-PEARL or RealiseD. However, structural inefficiencies persist, limiting their full potential. To further enhance the role of PPPs, we recommend:

• Embedding systematically PPPs as a structural element within EU funding mechanisms to drive rare disease research and innovation. By systematically integrating PPPs into European, pan-national, and national research funding calls, the EU can ensure that public funding leverages private sector expertise, fostering long-term collaboration between academia, healthcare professionals, industry, and patient advocacy groups; without forgetting to sustain the European Reference Networks. These partnerships will create a more stable investment environment, enhance the alignment of research priorities with regulatory and commercialisation pathways, and accelerate the translation of scientific discoveries into deployment into national healthcare systems. Furthermore, prioritising PPPs in funding mechanisms will enable the pooling of resources, reducing duplication of efforts and maximizing the impact of rare disease research initiatives.

Possible concrete actions:

• • Designate PPPs as a formal evaluation criterion in project calls on rare diseases.
  • Establish a European PPP Competence Centre hosted by ERDERA to support building staff competence on partnerships, consortia formation, IP management, and stakeholder alignment.
• Encouraging early-stage collaboration between public and private stakeholders is key to accelerating the development of therapies for rare diseases. Exploring targeted financial incentives, such as matched funding programmes and milestone-based grants, to make early-stage research more attractive to companies of all sizes. In parallel, different approach for price and reimbursement, including risk-sharing approaches, can help align interests and reduce barriers to collaboration. Additionally, policy measures that streamline intellectual property negotiations and facilitate pre-competitive collaboration can help build trust among stakeholders. By fostering these early interactions, research projects can progress more efficiently from discovery to clinical validation, ensuring that promising innovations do not stall due to financial or regulatory bottlenecks. This proactive approach will ultimately enhance the EU’s competitive edge in life sciences by making the region a global leader in rare disease innovation.

Possible concrete actions:

• • Deploy milestone-based co-creation grants to align private investment incentives with public funding objectives from early R&D phases.
  • Create Rare Disease Innovation Sandboxes, offering flexible IP, data-sharing, and regulatory support environments for early collaborations.
  • Launch a venture co-creation mechanism, supported by the IHI involving patient groups, regulators, and venture capitalists to de-risk early investment in rare disease pipelines.
• Fostering international collaboration is crucial to ensure the EU remains one of the key players in rare disease research. Strengthening partnerships with global research consortia and aligning regulatory standards with international best practices will ensure seamless knowledge exchange and accelerate innovation. By leveraging expertise from diverse stakeholders and integrating lessons from successful international PPPs, the EU can enhance research efficiency and improve patient outcomes.

Possible concrete actions:

• • Continue support to the IRDiRC mission
  • Continue support to co-fund Joint Calls with non-EU partners on diagnostics, trial readiness, and white spot mapping.

Regulatory innovation to support Rare Disease Research and its deployment

Regulatory complexity remains one of the biggest barriers to rare disease innovation in the EU. The Rare Disease Moonshot has highlighted key challenges, including fragmented approval processes, lengthy clinical trial requirements, and the lack of a unified regulatory science framework. To overcome these challenges, we propose to:

• Develop a structured regulatory science platform is essential to support academic teams, biotech/pharma/medtech companies as well start-ups and scale-ups navigating the complex regulatory landscape for rare disease therapies. This platform should offer tailored guidance, regulatory expertise, and structured engagement with key regulatory bodies. By providing a centralized hub for regulatory support, it will facilitate compliance, reduce the administrative burden, and expedite market access for innovative treatments. Additionally, fostering continuous dialogue between regulators, researchers, and industry stakeholders will ensure that regulatory frameworks remain adaptive to scientific advancements and patient needs.
• Integrate real-world data and real-world evidence into regulatory decision-making is key to improving the development, approval, and monitoring of rare disease therapies. Establishing policies that ensure the robust collection, validation, and utilisation of real-world data will enhance the assessment of treatment efficacy and safety beyond traditional clinical trials. Regulatory agencies must develop frameworks that facilitate the use of real-world evidence for adaptive approvals, allowing for more dynamic and responsive regulatory pathways. Furthermore, strengthening collaboration between healthcare providers, researchers, and regulatory bodies will ensure that real-world data informs clinical practice, improving patient outcomes and optimizing therapeutic development.

Possible concrete actions:

• • Establish regulatory mentoring tracks in PPPs
  • Promote research protocols alignment with regulatory expectations through requirement in calls for proposal
  • Build on EU-X-CT to establish a permanent mechanism for mutual recognition of rare disease trial ethics and approvals.
  • Develop regulatory-grade RWD certification standards in EHDS, validated with EMA, to streamline adaptive approvals
  • Include RWE in conditional approval processes for ATMPs and other high-risk therapies in ultra-rare diseases.

Leveraging data and digital technologies to accelerate Rare Disease Research

The European Health Data Space (EHDS) provides a unique opportunity to enhance data sharing and collaboration in rare disease research. However, challenges remain in terms of data interoperability, privacy regulations, and cross-border data exchange. We propose the European Commission to consider:

• Harness the potential of the EHDS to enable seamless, high-quality data access for research and informed regulatory decisions. Ensuring that rare disease researchers have access to comprehensive and harmonized data will facilitate better disease modelling, enhance clinical trial design, and optimize patient recruitment. Additionally, structured data-sharing mechanisms must be implemented to allow cross-border collaboration while maintaining the highest standards of privacy and security.

Possible concrete action:

• • Embed rare disease use cases into EHDS pilots, ensuring access to high-quality cross-border data for research and regulation.
• Developing a unified and transparent data governance framework, essential to support the responsible collection, management, and utilization of health data for rare disease research. Policies must be developed to ensure interoperability across different national health systems, fostering consistency in data standards and ethical use. Cross-border data-sharing agreements should be reinforced to facilitate regulatory alignment while safeguarding patient confidentiality. By embedding these governance structures within the EHDS, the EU can create a trustworthy ecosystem that supports scientific discovery while upholding the highest ethical and legal standards.

Possible concrete action:

• • Develop a unified and transparent data governance framework, essential to support the responsible collection, management, and utilization of health data for rare disease research.

Conclusion: Europe’s opportunity to lead in Rare Disease innovation

The EU has the potential to establish itself as the global leader in rare disease research and innovation, but this leadership depends on fostering a dynamic and competitive environment where PPPs are systematically embedded into the European Life Sciences Strategy. Achieving this requires a strategic, meaningfully funded, and coordinated approach that not only integrates rare diseases into EU research priorities but also positions PPPs as a fundamental driver of competitiveness. By leveraging industry expertise, research institutions, and patient-driven innovation, PPPs create an ecosystem where knowledge transfer, regulatory alignment, and investment coalesce to accelerate breakthroughs.

The Rare Disease Moonshot stands ready to collaborate with policymakers, industry stakeholders, patient organisations and the research community to ensure that rare diseases are not just an afterthought but a centrepiece of EU funding, regulatory, and innovation frameworks. This means embedding PPPs into flagship EU initiatives, ensuring cross-sector collaboration in translational research, and optimizing regulatory pathways to enable faster, cost-effective drug development. By strengthening the EU 's ability to retain and attract investment in life sciences, PPPs will secure the EU ’s place as the leading hub for rare disease innovation, transforming scientific excellence into tangible therapeutic solutions. The time to act is now—to harness the EU 's potential, drive industrial leadership, and deliver life-changing treatments to rare disease patients across the EU.