The Rare Disease Moonshot and Together for Rare Diseases coalitions advocate for reimagining ERNs as research powerhouses with PPPs at their core
The European Commission's recent evaluation of European Reference Networks (ERNs, representing a structured network comprising more than 1,600 highly specialised healthcare units from almost 400 hospitals in all EU Member States, plus Norway) reveals significant progress in specialised care for rare diseases, including cross-border consultations, clinical guidelines, and training initiatives. However, it also exposes a critical gap in research integration during the initial phase of ERNs. Initially, ERNs were not tasked with conducting research activities as this was excluded from their work plan by the European Commission. This oversight represents a missed opportunity to address the unmet medical needs of rare disease patients through robust research frameworks.
The evaluation report highlights that ERNs have successfully developed epidemiological registries and databases on rare diseases and recognizes that 33.3% of ERNs were deemed ‘excellent’ and 66.7% as ‘acceptable’ in research. Moreover, several ERNs have established registries to collect data on patients with rare diseases. ERNs have been active in promoting research to advance treatments for rare diseases and have also been involved in clinical trials. Finally, through ERICA, SOLVE-RD, EJP RD, ERDERA and other initiatives, ERNs can inform and support the research pathway and promote the importance of not only their individual efforts, but also collaboration to advance the knowledge and management of multisystemic diseases.
The Rare Disease Moonshot and Together for Rare Diseases coalitions recognise the advancements made but stress the necessity of elevating research as a second core focus of ERNs, particularly through public-private partnerships (PPPs) as they represent a significant missed opportunity to harness these networks' full potential in driving scientific breakthroughs for rare disease patients.
Evaluation shortcomings
While the evaluation highlights areas for improvement such as coordination, visibility, legal frameworks, resources, higher standardization of patients’ data collection, patient empowerment, and geographical distribution, these overshadow the urgent need to prioritise and enhance research activities within ERNs. By focusing primarily on operational and structural issues, the evaluation does not recognise the transformative power of research in addressing rare disease patients' unmet needs. This narrow perspective risks underutilising the vast expertise and collaborative potential within ERNs.
Untapped potential of PPPs
The current evaluation frameworks tend to view industry participation solely through a funding lens, substantially undervaluing the rich contributions that pharmaceutical, biotech and medtech companies can provide to the rare disease research continuum. These industry partners contribute not only financial resources but also invaluable scientific and regulatory expertise, access to cutting-edge infrastructure, and a global perspective that can accelerate research and development. A greater emphasis on robust PPPs presents a crucial opportunity to ignite innovation in this vital domain of healthcare.
Projects demonstrating ERN-Industry collaboration
To address collaboration barriers and explore potential solutions, Together for Rare Diseases has initiated pilot projects testing frameworks for ERN-industry partner collaboration. These pilots will inform best practices and guidelines for future ERN-Industry partnerships, potentially influencing revisions to the ERN Governing Board of Member States' statement on such collaborations. These practical examples of successful cooperation are vital for building trust and demonstrating the value created when ERNs and industry collaborate to address unmet needs in rare diseases.
Call for healthcare and research-centric ERNs
While we believe that the ERNs’ original (and current) focus of supporting cross-border healthcare (notably by establishing clinical and diagnosis guidelines) remains a critical aspect of the European Rare Disease collaboration, we also consider that ERNs have the potential to become research powerhouses with PPPs at their core. The following actions would ensure ERNs become key partners in the rare disease research continuum:
- Provide the resources (human and funding) to support their increase research activities and become ‘research-ready’ networks to be further integrated in the European Rare Diseases Research Alliance (ERDERA).
- Scale up the ambition on research activities within ERNs, making them a core component of their mission and evaluation criteria.
- Develop a framework for meaningful PPPs that leverage both network and industry expertise in scientific, regulatory, and operational domains.
- Create incentives for ERNs to engage in innovative research initiatives, including preclinical research, natural history studies and clinical trials.
- Establish clear metrics for assessing ERNs' research output and impact, including collaborative projects with industry partners.
- Integrate ERNs more deeply and consistently across the network of centres into the broader rare disease research ecosystem, fostering connections with fundamental research institutions, pharmaceutical and biotech companies.
- Support the empowerment of patient organisations and ePAGs to engage effectively and proactively in clinical research.
Political momentum is now
The current political landscape presents a unique opportunity to address these issues. With the ongoing review of the pharmaceutical legislation, the upcoming Life Sciences Strategy, the EU Biotech Act and various EU initiatives, now is the time to act to integrate a robust rare disease research roadmap into future funding programmes.
The Rare Disease Moonshot embodies the collaborative spirit needed to drive this change, bringing together stakeholders from industry, academia, and patient organisations to advocate for systemic changes supporting collaborative research. Similarly, Together for Rare Diseases stands ready to support ERNs in pursuing opportunities that address unmet medical needs through multi-stakeholder collaboration.
By placing research at the centre of ERNs' mission and embracing the full potential of PPPs, we can transform the rare disease landscape. The 300 million people worldwide affected by rare diseases deserve our collective expertise and unwavering commitment to driving scientific breakthroughs. Through collaboration and a shared vision, we can overcome the challenges highlighted in the evaluation and accelerate progress towards life-changing outcomes for rare disease patients. The time to act is now – let us seize this crucial opportunity to redefine the future of research in rare diseases.