EU's rare opportunity to shape a better future for people living with rare diseases

Over the coming months, a new EU Parliament and EU Commission will sit for the first time and determine the shape of Europe for many decades to come. For many policymakers, the question of how healthcare can be made better, more equitable and more sustainable for all – has played a part in inspiring many of their journey towards Brussels. They commence or continue their roles at a critical moment for health in Europe.

In the next months and years, they will play a pivotal role in defining policies with the potential to shape the future of health for millions of people across the region. That includes the rare disease community. Will this parliament and commission recognise the profound and urgent unmet needs and the inequities rare disease patients uniquely face? Will their voices be heard? 

Rare diseases are a European public health concern

Rare diseases affect up to 36 million people in the EU and they are often severe, progressive and life-threatening. It takes an average of five years to receive an accurate diagnosis for a rare disease, during which time patients’ lives can be dominated by uncertainty, and sometimes devastating disease progression, as they seek the answers and the care they need. 

Even with a diagnosis, a patient’s future often remains unpredictable. There is a lack of scientific understanding about many rare conditions and no meaningful treatments for 90% of the estimated 10,000 rare diseases. Moreover, when an appropriate treatment does exist, access isn’t guaranteed: there are significant disparities amongst different EU countries in how quickly patients can access new medicines.

Innovation is urgently needed, but highly complex

People living with rare diseases urgently need faster diagnosis and access to new treatment options. But researching and developing new therapies for rare diseases is uniquely challenging. Small, geographically dispersed patient populations make carrying out clinical trials complex, while researchers must contend with significant gaps in scientific knowledge and understanding of how each disease affects people living with rare diseases.  

The comparative risk and difficulty that comes with drug discovery for rare diseases will always be higher than innovating for larger patient populations. For many years, this stymied innovation – but that changed with the implementation of the first European Orphan Medicinal Products (OMP) regulation 20 years ago. 

Policy can create the conditions for rare disease innovation to thrive

The OMP was a landmark political commitment to address the lack of research and development for rare diseases. Prior to its introduction in 2000, only eight orphan medicines were available for patients but by January 2024, that number had risen to 244 authorised medicinal products. Importantly, the OMP also led to a greater awareness and understanding of rare diseases and helped establish a functioning rare disease ecosystem.

The OMP created the conditions for rare disease innovation to flourish, and now it is time for an update. This is occurring right now as part of the EU’s first major overhaul of its rules on pharmaceutical medicines, known as the EU General Pharmaceutical Legislation (GPL). The objective of the GPL is to increase access and availability of medicines across all member states and strengthen Europe’s competitiveness and attractiveness, and there are many encouraging proposals for rare diseases contained within this legislation. 

These proposals have passed key legislative milestones with negotiations continuing on the road to implementation by 2028. Many people living with a rare disease currently have no treatment options, and throughout this process, it remains critically important that innovation can thrive and the needs of the rare disease community continue to be considered. 

EU health policy is at a pivotal point

The EU’s GPL is not the only area of policy with potential to have a life-changing impact on people living with rare diseases. At a time when technology is advancing at an astonishing pace, additional health policies will play a crucial role in enabling cutting-edge technologies, such as artificial intelligence and genomic medicine, to fuel innovation.

The much-anticipated European Health Data Space has a role to play enabling the EU to fully benefit from the potential offered by a safe and secure exchange, use and reuse of health data. Further, policies that enable access to powerful diagnostic tools, such as newborn screening and genomic sequencing, can be expanded and equalised to improve patients’ journey to diagnosis across the EU.

Moving forward together

Right now, there is a generational opportunity to overcome health inequities for people living with rare diseases, shaping policies that pave the way for both accelerated and advanced diagnosis and treatment options. 

But progress will only be realised if we all come together – from across the rare disease ecosystem and the political sphere – to recognise and champion the urgent needs of the rare disease community and ensure their voices are heard. 

Together, we can seize the moment. Together we can make a better future for people living with rare diseases one of this new parliament’s proudest legacies.