March 5. 2024. 2:57

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Advancing equity in access to rare disease care through the ERNs: a conversation with experts


28 February marks Rare Disease Day 2023, under the theme of equity. While 95% of the 7000 known rare diseases in Europe do not have a dedicated treatment, policymakers stress that “scarcity of data and expertise on rare diseases demand cross-border collaboration in terms of sharing knowledge, data, and research. A European Action plan would provide a roadmap leading towards common objectives that correspond to unmet needs and ensure that inequalities are not exacerbated by a person’s country of residence” (MEP Stelios Kympouropoulos).

Baiba Ziemele, Chairwoman, Latvia Hemophilia Society; ePAG advocate: As a patient myself, I acknowledge the capacity of ERNs to spread awareness on rare diseases. We see more research being carried out and opportunities that were not possible before ERNs.

Prof. Cédric Hermans, Head, Haematology Division, Belgian Saint-Luc University Hospital; EuroBloodNet member: From a clinician’s perspective, ERNs have allowed enhanced interactions with professionals both at national level and across borders. At the level of EuroBloodNet, we now see a network of centres where expertise is clearly defined. An overall success is the increased visibility of ERNs such as enhanced investment from major hospitals, acknowledgment at the national level of ERNs’ capacity to grant access to care).

Baiba Ziemele: ERNs have given patients in smaller countries like Latvia the opportunity to access specialists and expertise that are not available at home, supporting equity across borders.

Cédric Hermans: ERNs embody the multiple facets equity can take. Equity should apply not only to patients but also to health professionals, so they continuously build up their own knowledge and expertise.

Victoria Hedley: The angle of equity within the ERNs is particularly interesting: we need to ensure all rare diseases have a home across the 24 networks. To increase the chances of all patients to have access to meaningful therapies, we need to progress beyond the more ‘prominent’ and better-understood conditions to include a real focus on ‘neglected’ diseases within ERNs.

Cédric Hermans: Despite advances, the EU has the means to even further expand research mechanisms amongst professionals. Cross-border referral systems present a key challenge, as cross-border care can really help patients with ultra rare diseases, to get optimal clinical advice and access to care across Europe.

Baiba Ziemele: Working on patient education is critical in this process, but patients’ groups cannot do patient education alone. We need doctors to help us with medical knowledge and national structures to support patients’ work and build frameworks to improve access to medicines and services.

Victoria Hedley: ERNs are still not fulfilling their research potential and their capacity to capture, reuse and standardise data, which is so important for rare diseases.

Another challenge is ERN-industry collaboration on which we’ve had a bit of a block ever since the ERNs were created. Research can happen without industry for certain types of research, but if we’re talking about new drug development, those collaborations are needed.

Additionally, participating countries need to raise awareness about the ERNs’ benefits towards primary care physicians, the general public etc; and work on referral pathways to make sure patients can fully tap into those virtual care systems.

Cédric Hermans: Patient knowledge and willingness to share life-long data is essential to give visibility to some diseases and foster access to meaningful therapies. Registries are very important in a field like inherited bleeding diseases to merge the data, especially in small countries. Only by aggregating data at the European level can we have enough patient information to conduct reliable and successful studies.

Victoria Hedley: Stakeholders acknowledge the need for a new policy framework on rare diseases that would fit new challenges and technologies including, gene therapy, orphan medicinal products.

We also need to see how industry can engage with the ERNs and all the relevant actors can contribute to the work. For instance, national authorities are important given the support they can provide to the new ERN registries.

An EU Action Plan on Rare Diseases would be the occasion to translate recommendations from previous multi-stakeholder foresights studies (e.g., Rare2030, led by EURORDIS, or Together4RD) and take them forward, so that we finally put rare diseases under the spotlight at the European level.

Commenting on ERNs, MEP Frédérique Ries states “ When it comes to rare diseases, working together at the European level is often the only way to reach the critical mass necessary to bring about the changes that patients want. The European Reference Networks are a perfect case in point, and they deserve much more support. That’s why, we need a European battle plan, a comprehensive policy framework to connect and update all policies and initiatives affecting people living with a rare disease at European and national levels.”