Enhancing Care for Rare Diseases in the EU through European Reference Networks
Rare diseases present a significant challenge for healthcare systems due to their low prevalence, limited treatment options—95% of known rare diseases still lack approved therapies—and the complexity of diagnosis. Over the past two decades, the European Union (EU) has prioritised rare diseases by promoting knowledge sharing and improving patient access to specialised care.
EU's Strategic Approach to Rare Diseases
The EU aims to enhance access to diagnosis, information, and treatment for rare disease patients by pooling expertise and resources across member states. This coordinated effort ensures that patients and healthcare professionals can share insights and best practices.
The EU’s approach to rare diseases consists of several key elements:
– Establishing and supporting European Reference Networks (ERNs)
– Defining, classifying, and cataloguing rare diseases
– Authorising and designating orphan medicinal products
– Expanding research and knowledge-sharing initiatives
– Strengthening the role of patient organisations
The Role of European Reference Networks (ERNs)
ERNs are cross-border collaborations that connect specialised healthcare centres and hospitals across Europe to improve the diagnosis and treatment of rare, low-prevalence, and complex diseases. These networks allow medical experts from different countries to consult on challenging cases, ensuring patients receive the best possible care.
To mark Rare Disease Day, HaDEA interviewed Professor Luca Sangiorgi, Coordinator of ERN BOND (the European Reference Network for Rare Bone Disorders) and Chair of the ERN Coordinators Group, which oversees all 24 ERNs.
Key Insights from Professor Sangiorgi
1. The Importance of ERNs in Rare Disease Care
ERNs encompass over 1,600 specialised centres across Europe, working together to improve knowledge exchange, establish common treatment pathways, and develop guidelines for rare disease care. A core aspect of ERNs is patient involvement, ensuring their perspectives are central to decision-making and medical advancements.
2. Achievements of ERNs Since 2017
Since receiving EU funding in 2017, ERNs have significantly improved patient care by:
– Providing harmonised pathways for diagnosis and treatment
– Facilitating more consistent treatment across EU countries
– Enabling virtual consultations through the Clinical Patient Management System (CPMS), which allows specialists to collaborate on complex cases
– Establishing ERN registries, which collect anonymised patient data to better understand disease progression and potentially discover new treatments
Additionally, ERNs have supported EU responses to crises, including the COVID-19 pandemic and Russia’s war against Ukraine, by offering guidance and treatment for affected rare disease patients. ERNs have also helped train Ukrainian healthcare providers to enhance local medical capabilities.
3. Objectives of Ongoing ERN Grants
Current ERN grants focus on stabilising and expanding treatment opportunities while exploring new advancements such as artificial intelligence to enhance rare disease care.
4. Challenges in Cross-Border Cooperation & Solutions
Despite progress, challenges remain in cross-border healthcare collaboration. The ERN Coordinators Group has set up working groups to address these barriers. The response to Ukrainian rare disease patients demonstrated that ERNs can effectively facilitate international cooperation.
For example, an Italian ERN BOND hospital recently provided surgery for a foreign patient whose home country lacked the necessary expertise. Visiting doctors participated in the procedure, ensuring they could apply the techniques in their own healthcare systems.
The Critical Role of EU Funding
EU funding has been vital for ERNs, financing their activities since 2017. A direct grant of €77 million has been allocated for the 2023-2027 period, supporting ERNs’ continued development.
The EU is also working to strengthen ERNs at the national level through the Joint Action on Integration of ERNs into National Healthcare Systems (JARDIN), funded with an additional €15 million. These efforts aim to integrate ERNs more effectively into national healthcare infrastructures.
Background & Additional Resources
– European Reference Networks
– ERN BOND – The European Reference Network for Rare Bone Disorders
– JARDIN Initiative – Strengthening ERN integration into national healthcare
– ERN Evaluation Report
– [EU4Health Programme](https://h
Leave a Reply