Right here, right now European public health policies must start giving people living with rare diseases a fair chance

This year’s Rare Disease Day (29 February) comes at a critical moment for European rare disease policy. Now more than ever, it’s essential that EU policies enable health equity for people living with rare diseases.

Soraya Bekkali, MD, is a trained medical doctor and SVP EUCAN & International Business at Alexion, a global biopharmaceutical company focused on developing life-changing therapies for people living with rare diseases.

Rare diseases affect up to 36 million people in the European Union and are often severe, progressive and life-threatening.¹

There is a lack of scientific understanding about many conditions and no meaningful treatment options for 90% of the estimated 10,000 rare diseases.² Many people living with a rare disease face a lengthy diagnostic ‘odyssey,’² and even when an appropriate treatment exists, access isn’t guaranteed: there are significant disparities between EU countries in how quickly patients can access innovative orphan medicines.³ 

2024 is a pivotal time for health policy in Europe. We must work together across the rare disease ecosystem to champion the needs of people living with rare diseases. It’s time for policies and legislation to answer this call.

The inequities of living with a rare disease are apparent even before diagnosis

What the diagnostic ‘odyssey’ means in practice for people living with a rare disease is as follows: It takes an average of five years – and often longer – to receive a rare disease diagnosis, a journey that often involves multiple doctors, specialists and misdiagnoses along the way.^2,4 The indirect effects, such as the inability to work, time lost traveling to and from testing or treatment appointments, and the unique needs of living with a rare condition weigh heavily on individuals, and are exacerbated for those living in rural or underserved areas where a lack of medical clinics and transportation options are commonplace.

The need for innovation is urgent

Once a patient has finally obtained their diagnosis, access to innovative medicines can be life changing. While the comparative risk and difficulty associated with drug discovery for rare diseases will always be higher than innovating for larger patient populations and better understood diseases, the implementation of the European Orphan Medicinal Products (OMP) regulation in 2000 was a significant political commitment to address the lack of R&D and subsequent lack of treatments for rare diseases. Its success is clear: prior to the introduction of the legislation, only eight orphan medicines were available for patients.⁵ By January 2023, that number had risen to 244 authorised medicinal products.⁶ Furthermore, the OMP led to a greater awareness and understanding of rare diseases and helped establish a functioning rare disease ecosystem.

Proposed policy changes risk going backward, not forward

The OMP is now over 20 years old, so it is right and appropriate that work is underway to modernise the medicines framework in Europe. However, the European Commission’s proposed update of the OMP regulation threatens to unravel the rare disease ecosystem that the original OMP helped create, undermining the clinical and economic viability of researching and developing new treatments for rare diseases.

The proposed update would reduce the incentives offered to drug manufacturers in Europe – including shortening data and market exclusivity periods, reducing incentives for therapies with additional indications, or uses, and linking some incentives to a new and unclear concept of ‘High Unmet Medical Need’. The risk is not just that this update will fall short of achieving the Commission’s ambitions of faster access and better affordability, but that it will stifle innovation and hinder progress. The European Federation of Pharmaceutical Industries and Associations predicts that the current proposals could deprive around 1.5 million rare disease patients of a novel treatment option over the next 15 years.⁷ Furthermore, it risks making Europe less competitive as a destination for rare disease R&D.

Future EU health policies must not overlook the needs of the rare disease community

The EU is at a pivotal point in setting the policies that will influence the speed and viability of innovation for years to come. Right now, with new advances in science and technology, we have the greatest chance we have ever had of being able to make progress in the fight for better diagnosis and treatment for people living with rare diseases.

Policymakers have the opportunity to build on the proposals outlined in the Rare 2030 foresight study, initiated by the European Parliament and co-funded by the European Commission Pilot Project and Preparatory Actions Programme. Rare 2030 outlines eight recommendations to lead to improved policy and a better future for people living with a rare disease in Europe, ranging from prioritising innovative and needs-led R&D, to achieving earlier, faster, more accurate diagnosis through better use of and access to available diagnostic testing technologies and programmes.⁸

Policies that help unleash the potential of cutting-edge technologies, such as artificial intelligence and genomic medicine, will be crucial to help advance the science, diagnosis and treatment of rare diseases. There is significant disparity across Europe in the access to specialists and centres of excellence, as well as the use of powerful diagnostic tools, such as newborn screening.⁹ Policies that expand and equalize the availability of these tools, alongside realising the untapped potential of genomic sequencing, should be prioritised to shorten patients’ diagnostic journeys. In addition, the much-anticipated European Health Data Space (EHDS), which aims to create an ecosystem across the EU to enable health data to be accessed and shared across borders securely and with patient consent, should play an important part in accelerating the development of new treatments and technologies to improve the lives of people living with rare diseases.

These policies could work together to herald a new era of rare disease innovation in the EU. But will they?

It’s time to write a new future for people living with rare diseases

People living with rare diseases already have the odds stacked against them. In the next few months, a new EU Parliament and Commission will be in place. Their mandate must include real action on rare diseases and an innovation policy framework that can start to rebalance those odds and address the inequities that people living with rare diseases face every day.

On Rare Disease Day, and every day until these policies are put into action, as a community we need to stand up, stand together and use our voices to call for a better future for people living with rare diseases. And we have to start today.

References

1. European Commission. Public Health – Rare Diseases. Available at: https://health.ec.europa.eu/european-reference-networks/rare-diseases_en
2. Rare-X. (2022). The Power of Being Counted Report. Available at: https://rare-x.org/wp-content/uploads/2022/05/be-counted-052722-WEB.pdf
3. Zamora, B., Maignen, F., O’Neill, P. et al. Comparing access to orphan medicinal products in Europe. Orphanet J Rare Dis. 2019;14(1):95.
4. EURORDIS. Earlier, faster and more accurate diagnosis. Available at: https://www.eurordis.org/our-priorities/diagnosis/
5. Office of Health Economics. (2010). Assessment of the Impact of Orphan Medicinal Products on the European Economy and Society. Available at: https://www.ohe.org/publications/assessment-impact-orphan-medicinal-products-european-economy-and-society/
6. European Medicines Agency. (2023). Annual Report on the use of the special contribution for orphan medicinal products. Available at: https://www.ema.europa.eu/en/documents/report/annual-report-use-special-contribution-orphan-medicinal-products-2023_en.pdf
7. Dolon. (2021). Revision of the Orphan Regulation: Estimated impact on incentives for innovation of changes proposed by the European Commission. Available at: https://www.efpia.eu/media/tigiq5g5/revision-of-the-orphan-regulation-estimated-impact-on-incentives-for-innovation-of-changes-proposed-by-the-european-commission.pdf
8. EURORDIS. (2021). Recommendations from the Rare 2030 foresight study: The future of rare disease starts today. Available at: https://download2.eurordis.org/rare2030/Rare2030_recommendations.pdf
9. EURORDIS. (2021). Key Principles for Newborn Screening. Available at: https://download2.eurordis.org/documents/pdf/eurordis_nbs_position_paper.pdf