An EU Action Plan on Rare Diseases would offer a coherent framework for improving the lives of millions of people.

Here are four areas where industry can drive change.

For the 30 million people in Europe living with rare diseases, limited access to diagnosis and care has a profound impact on quality of life. For many conditions, the lack of treatment options is a major barrier to achieving better health outcomes. Addressing policy fragmentation and overcoming hurdles to research and development could unlock much-needed progress.  

That is why EFPIA supports the multistakeholder initiative to develop a European Blueprint for Rare Diseases. Led by EURORDIS-Rare Diseases Europe, the proposed Blueprint would lay the foundation for a future EU Action Plan on Rare Diseases.  The European Conference on Rare Diseases – Rare Diseases in a Changing and Competitive Europe – held in Prague this week, provides a valuable catalyst for this vital work.  

To turn our shared vision into reality and address the significant unmet needs of patients, all stakeholders must contribute. We believe industry alignment is most critical in four potentially transformative areas.

1. Strengthening data infrastructure and access

Rare diseases involve small patient populations, making evidence generation and clinical trial feasibility a constant challenge. We believe Europe must move beyond fragmented systems to create a dedicated programme for rare disease data.  

Our goal must be to generate and ensure quick access to standardised, high-quality data to reduce R&D uncertainty. This would deliver stronger networking between centres of expertise, accelerating patient identification and participation in vital research.  

2. De-risking R&D for the most challenging indications

Traditional development models are often not viable for ultra-rare diseases or paediatric indications. Europe needs a policy framework that prioritises R&D where no development currently exists.  

To do this, we must create pathways for public-private partnerships and implement indication-based pricing. By decoupling rare indications from more common conditions, Europe will ensure that marketing efforts remain viable. This is essential to attracting and keeping innovation, helping to connect patients with the latest innovations.   

3. Scaling success into a permanent ecosystem

Europe has a strong record of developing collaborative initiatives with the capacity to accelerate research. However, valuable tools and registries, created through EU-supported projects, often disappear once a project cycle ends. That is why we are calling for a shift from a project-based approach to a long-term sustainability strategy.  

By establishing permanent EU funding mechanisms and regulatory sandboxes to maintain and scale successful research platforms, Europe can build on its successes and deliver better value for its investments. Avoiding duplication and fragmentation ensures that successful initiatives benefit patients for years, not just for the duration of a grant.  

4. Optimising regulatory and HTA pathways 

Innovation is only effective if it reaches the patient. Currently, fragmented and ofter times divergent regulatory and Health Technology Assessment (HTA) demands  act as a barrier.  

EFPIA supports the creation of a coherent, forwards-looking, end-to-end environment that shortens timelines and improves predictability. By aligning evidentiary expectations between regulators, HTA bodies, and payers, we can accelerate the delivery of new therapeutic options.  

A unified path forward Aligning on these four areas will enhance Europe’s attractiveness for research and, most importantly, provide a sustainable environment for the innovation patients so urgently need.  

Patients have waited too long for progress. However, we have reached a moment of enormous opportunity in which a broad range of stakeholders is actively working together to address long-standing challenges. Industry is ready to play its part in full.  

A Blueprint, co-created in a spirit of partnership, offers a chance to shape a better future for millions of people living with rare diseases. We look forward to collaborating with Eurordis and all stakeholders to to address the unmet needs of the rare disease community.