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#ActRare2024: What progress must the EU make on rare diseases?

March 2024

Launched on Rare Disease Day 2024, our #ActRare2024 campaign is looking to the June 2024 European Parliament elections and the forthcoming European Commission appointments.

Our campaign is rallying everyone – prospective policymakers, individual advocates, and patient organisations – to keep rare diseases high on the political agenda during the EU’s next legislative term of 2024-2029.

The campaign’s mission? To secure commitments from the next EU policymakers on eight key areas critical to our community.

But what exactly are the eight key areas where we are calling for action?

We delve into the specific actions we’re urging the EU’s next officials to take.

Our central call is the creation of a unified European policy framework for rare diseases.

We’re calling on the next European Commission to develop a comprehensive European Action Plan for Rare Diseases that streamlines existing efforts with clear, measurable objectives. This will ensure coordinated action across EU Member States, addressing the fragmented care and support system.

With broad consensus among EU institutions and Member States on the need for such a plan, its inclusion as a priority in the European Commission’s 2024-2029 work programme would represent a significant step forward in EU rare disease policy. Establishing a Drafting Group to design this Action Plan would be a first concrete step forward.

As a patient advocate from a small EU country, I want to stress the critical need for a revamped European Policy Framework on rare diseases. To break down the barriers facing patients, I believe we need a revised, unified, and patient-focused European Action Plan for Rare Diseases. This plan must pave the way for early and precise diagnosis and ensure patients have access to the treatments they need.

Spyros Polyviou, Cyprus Alliance for Rare Disorders

In Europe, patients with rare diseases typically endure, on average, a five-year wait for an accurate diagnosis, causing considerable psychological, financial, and social strain. Yet, a swift, precise diagnosis is essential, paving the way for actions that result in improved health and wellbeing.

The EU’s next policymakers need to ensure universal access to diagnostics, bolster specialised networks such as the European Reference Networks (ERNs), and fund research into innovative diagnostic technologies.

Key initiatives must include promoting data sharing, adopting a coordinated care approach for undiagnosed individuals, and enhancing healthcare professional training to improve referrals to specialist centres, significantly bettering the diagnostic journey for rare disease patients. Last but not least, consistent approaches to newborn screening across Europe would bring a leap change in rare disease diagnostic.

EU-level collaboration would help reduce inequalities across countries in areas where EU action would have added value, while respecting the principle of subsidiarity.

“We are very proud that over the last three years, Portugal’s rare disease community has been responsible for major national strides towards faster diagnoses, particularly through advocating for advancements in data systems and technology. Over the years to come, it is vital that EU leaders champion further enhancements in rare disease diagnostics across the continent.”

Paulo Goncalves , RD-Portugal

The ‘geographic lottery’ in European rare disease healthcare, caused by the uneven spread of experts and expertise, highlights the need for integrated healthcare pathways across the EU. Through the ERNs, the EU is already enhancing expertise sharing and addressing healthcare access disparities.

Building on this progress over the next five years, the EU must strive to ensure fair and prompt access to specialised care, incorporating ERNs into both cross-border and national health systems.

The recent launch of the Joint Action on Integrating the ERNs into National Healthcare Systems (JARDIN) represents a significant step forward. However, for this fundamentally European project to succeed, ongoing support is crucial. This includes securing EU co-funding in the next budgetary period, 2028-2035, as well as investing in Centres of Expertise, developing targeted solutions for extremely rare diseases, and embracing a patient-centred care approach.

The EU’s next policymakers must strive to ensure prompt access to affordable and innovative treatments for the rare disease community, addressing the considerable gaps in therapy availability. Despite the EU Regulations on Orphan Medicinal Products and Paediatric Medicines having boosting therapy development, challenges persist in reaching underserved patients and equitably distributing approved treatments.

With only 6% of rare diseases having treatment options and significant differences in access across Member States, future EU policymakers need to improve the incentives framework to better support those without treatment options. This means creating a research and development model focused on patient needs, ensuring smooth transitions from development to patient access, improving collaborative pricing strategies, and implementing policies for access to complex therapies. The goal is to guarantee prompt treatment for all rare disease patients.

The EU must focus on person-centred, lifelong holistic care for those with rare diseases, addressing their complex needs and potential social challenges, including their significantly higher risk of depression.

Future EU policies must guarantee equal access to comprehensive care and promote inclusive education, work, and social protection. Involving rare disease representatives in shaping these policies is crucial. Enhancing disability assessments in Member States is key to ensure access to social, disability, and independent living rights for those with rare diseases, as the enjoyment of social rights is associated at national level to the recognition of the disability status.

Developing EU-level guidelines within the framework of the EU Disability Strategy, for instance through the EU Disability Platform, would help make the best of Member States’ existing best practices and contributions from civil society.

Furthermore, investing in the dissemination of best multidisciplinary healthcare practices, and integrating mental health and psychosocial considerations into health policies are all essential to improving the overall wellbeing of people living with a rare disease.

Holistic care is imperative in the management of rare diseases. In addition to impaired physical wellbeing and scarce therapy for rare diseases, people with rare diseases and their families often face emotional, social, financial and logistical challenges, requiring comprehensive support beyond medical care. A holistic, person-centred approach tailored to one’s specific needs is crucial in building resilience and improving the quality of life of patients and families faced with rare diseases.

Sara Bajlo, Rare Diseases Croatia

The EU’s next officials must prioritise innovative, patient-centred research to tackle rare diseases.

Challenges like insufficient funding, small patient pools for trials, and fragmented registries slow progress.

Future EU policies should promote collaboration via Horizon Europe’s Partnership for Rare Diseases, invest in patient-focused infrastructure, and encourage the efficient use of resources.

Emphasising a regulatory science agenda, patient participation, and international partnerships will be key to advancing our understanding and treatment of rare diseases, bridging the current gaps in knowledge and care.

Expertise, data and resources for the majority of the rare diseases identified so far are rare – as are the diseases themselves. We need to collaborate across borders to pool knowledge and data and move towards equitable chances of scientific progress and innovation, specifically in these underserved disease areas.

Eva Schoeters, RaDiOrg – Rare Diseases Belgium

Leveraging the potential of health data is essential progress in the understanding and treatment of rare diseases, where the scarcity of data frequently hampers advancements.

Through the building of the European Health Data Space (EHDS), the next EU policymakers will inherit the unique chance to enhance health data exchange and foster research collaboration. By ensuring secure, cross-border data sharing, this initiative will drive innovation, improve patient care, and uphold data privacy and security.

The regulatory construction of the EHDS must seek to harness data’s power for societal good and elevate health outcomes in the rare disease community, leading to more informed decisions and pioneering treatment methods.

We need to unlock the potential of the European Health Data Space (EHDS) to enhance rare disease research, therapeutic innovation, and meaningful improvements in diagnosis, treatment and integrated care. In Austria, our national health data strategy is quite behind and has to be updated to catch up with the majority of EU countries, who have implemented national health data hubs and rare disease registries. Progress at the EU level would give visibility to the rare disease community, provide reliable data, shape adequate health policies, and assist with the planning and control of resources and funding.

Dominique Sturz, Pro Rare Austria

The EU must adopt a sustainable and resilient approach to developing rare disease treatments, balancing health outcomes with environmental and socioeconomic sustainability. Future EU policies should leverage digital health and telemedicine to broaden clinical trial access and follow the principles for ethical research.

A flexible framework that adapts to changing environmental and socioeconomic conditions would address health challenges efficiently, offering fair and thorough solutions for rare disease patients and ensuring the durability of treatment development in the face of global shifts.

Support the #ActRare2024 campaign!

Over the 2024-2029 legislative term, we are urging Members of the European Parliament, European Commissioners, and Member State representatives to commit to creating a European Health Union that supports every individual with a rare disease.

Already, many MEPs across political spectrums have already pledged to prioritise rare diseases if elected, but this is just the beginning of our campaign. We aim to engage many more candidates before the June elections.

Whether you are part of a national rare disease alliance, or a patient advocate, or even an MEP candidate yourself, you can support our campaign!

Engage with the #ActRare2024 hashtag on social media and learn more about how you can support the campaign!

Julien Poulain, Communications Manager, EURORDIS