This week marks the second anniversary of the launch of the EU’s “Rare Disease Moonshot,” a commitment by nine European associations to break down barriers to advance development of therapeutics for rare diseases. Has it had a market impact?

By Patricia Van Arnum, Editorial Director, DCAT, pvanarnum@dcat.org

Rare-disease drug opportunities
Pharmaceuticals and treatments for rare diseases remain an important area for drug development. Over 7,000 rare diseases have been identified, yet fewer than 5% have available treatments, according to information from the European Federation of Pharmaceutical Industries and Associations (EFPIA), which represents innovator drug companies in Europe. EFPIA notes that this significant gap highlights the need for further action, which was the impetus behind the launch of the Rare Disease Moonshot, which represents a commitment and collaboration between nine European organizations, including EFPIA, to break down the barriers to finding new treatments and cures for rare diseases that currently have no therapeutic options.

The Rare Disease Moonshot was launched two years ago, and in addition to EFPIA, eight other organizations are part of the Rare Disease Moonshot. They include the Biobanking and Biomolecular Resources Research Infrastructure (BBMRI-ERIC), the European Rare Diseases Research Alliance (ERDERA), the Critical Path Institute (C-Path), the European Confederation of Pharmaceutical Entrepreneurs (EUCOPE), the European Clinical Research Infrastructure Network (ECRIN), EuropaBio, EURORDIS-Rare Diseases Europe, and the European Infrastructure for Translational Medicine (EATRIS).

“White spots” in rare disease research
Many rare diseases remain understudied with limited available research, and EFPIA points to the need to change the research model to facilitate the development of treatments for rare diseases. “The fragmented and linear nature of traditional research approaches causes delays and inefficiencies. These knowledge gaps and slow progress leave many patients and families without suitable solutions,” EFPIA noted in a November 18, 2024, statement in commenting on the second anniversary of the Rare Disease Moonshot. “Addressing these white spots in research requires a shift from siloed and sequential R&D processes to more collaborative, interconnected approaches. By bringing together all relevant players—academia, industry, regulators, patients, and clinicians—public-private partnerships can enable or accelerate progress. In these partnerships, the problem is defined collectively, goals are aligned, and solutions are developed together. Knowledge, expertise, and infrastructure are shared, and the needs and priorities of all parties are addressed.”

EFPIA notes that public-private partnerships have been shown to deliver sound science and accelerate the R&D process, as evidenced by initiatives, such as the Innovative Health Initiative (IHI) and its predecessor, the Innovative Medicines Initiative (IMI). However, it says that few funding programs explicitly encourage or incentivize such collaborations. It points to the European Rare Diseases Research Alliance (ERDRA) as one of the first public-public partnerships to actively offer space for public-private collaborations on its platform.

EFPIA further notes that cross-sector collaboration is essential to change scientific paradigms, such as the development of solutions for disease groups that share similar characteristics and to adapt research and regulatory processes, as well as healthcare delivery models. “This cultural and organizational paradigm shift requires stronger support from policymakers, and the definition of common goals across public, private, and public-private initiatives. Funding tools must be aligned across national and European health and research programs, creating a coherent framework that supports collaboration wherever it can make difference,” EFPIA notes.

European Reference Networks
EFPIA points to the European Reference Networks (ERNs) as a model for effective collaboration. Established to connect healthcare providers across Europe, ERNs have made contributions to data sharing and joint research and are positioned to play a central role in rare disease diagnostics and treatments.

However, integrating ERNs into the broader research ecosystem requires additional funding and structural support, according to EFPIA. Originally designed for healthcare delivery, these networks need adaptations to maximize their research potential. Pilot projects (under the Together For Rare Diseases initiative) are underway to explore how the public and private sectors can work together within the ERN framework.

Rare Disease Moonshot: key priorities
In the two years since its creation, EFPIA notes that the Rare Disease Moonshot has delivered a shared roadmap for public-private collaborations in the rare disease space. Through collective or individual actions, it has triggered or strengthened public-private collaborations in IHI, the European Joint Program Cofund on Rare Disease (EJP RD), and ERDERA — spanning clinical trials, regulatory science, translational research, and capacity building.

As the Rare Disease Moonshot moves into its third year, EFPIA noted that several priorities have emerged:

• Development of a systematic approach to public-private collaboration
• Better integration of new technologies into the research process
• Strengthen the deployment in research/healthcare of research outcomes
• Improved implementation of existing regulations
• Focus on regulatory compliance from early research stages
• Sustainability of research infrastructures.

EFPIA notes that there is policy momentum, such as through the ongoing review of the EU’s pharmaceutical legislation, the upcoming Life Science Strategy, Innovation Act, Biotech Act, and the Competitiveness Fund. The Multi-Annual Financial Framework (MMF), and FP10, which refers to the 10th Framework Program for Research and Innovation, which is the successor to Horizon Europe, an EU-wide initiative to support research and innovation to advance European competitiveness, offer key opportunities to integrate a rare disease research roadmap into future funding programs across all instruments.

EFPIA notes that several key actions needed to maintain momentum:

• Integrating rare disease research into future funding programs
• Continuing commitment to collaborative research and public-private partnerships (like the IHI and ERDERA)
• Simplifying FP10 rules to facilitate public-private collaboration
• Removing real and perceived barriers, such as those posed by the Statement of the European Reference Networks Board of Member States on their collaborations with industry
• Ensuring all existing and prospective stakeholders are engaged
• Sustaining European Reference Networks and supporting their integration into broader research activities
• Aligning and accelerating clinical trial reviews and approval processes across Europe and facilitating cross-border trials
• Creating a stable and predictable environment to attract investors, retain talent, and foster innovation

“With the implementation of proposed changes and continued commitment to collaboration, there is real hope for progress in treating rare diseases that currently lack therapeutic options,” said EFPIA. “Europe must seize this opportunity to lead the way in tackling the white spots in rare disease research. By fostering a unified, collaborative, and well-supported research ecosystem, we can drive innovation that ultimately improves the lives of millions of patients and families worldwide.”