Rare diseases represent a major health challenge for healthcare systems due to the limited knowledge available to diagnose them, the limited number of  treatment options (95% of the known rare diseases still lack an approved treatment) and their low prevalence*. That is why rare diseases have been a priority for the European Union over the past two decades, resulting in collective action to facilitate knowledge sharing and access to specialised care for patients.

The EU’s strategic objective for rare diseases is to improve patient access to diagnosis, information and care. It assists in pooling scarce resources spread across the EU, enabling patients and professionals to share expertise and information.

The European response can be characterised by a combination of key elements:

• Setting up and supporting European Reference Networks (ERNs);
• Supporting the definition, codification and inventory of rare diseases;
• Supporting the designation and authorisation of orphan medicinal products;
• Building and broadening the knowledge base, also through research;
• Empowering patient organisations.

ERNs are cross-border networks that bring together European centres of expertise and hospitals to tackle rare, low prevalence and complex diseases and conditions requiring highly specialised healthcare.

ERNs enable specialists in Europe to discuss cases of patients affected by rare, low-prevalence and complex diseases, providing advice on the most appropriate diagnosis and the best treatment available.

On Rare Disease Day, HaDEA interviewed Professor Luca Sangiorgi, Coordinator of ERN BOND, the European Reference Network of Rare Bone Disorders, and Chair of the ERN Coordinators Group, which is the governing board of the 24 ERNs.

1. Can you explain the relevance of ERNs in the field of rare diseases?

ERNs gather over 1600 European centres of expertise dealing with rare, low prevalence and complex diseases and conditions which require highly specialised healthcare. Their relevance in the rare disease field resides in the possibility of enabling knowledge exchange and creating common patient pathways and guidelines, which will then be shared with the entire healthcare community. Patient representatives are involved and engaged in all ERNs’ processes, to ensure that their perspective is taken into account in the work of the ERNs.

2. The ERNs have been funded by the EU since 2017. What do you consider their main successes?

The main success of ERNs is that they allow patients with a rare disease to have a proper harmonised pathway for diagnosis and treatment. Moreover, ERNs are favouring more homogeneous treatment of patients across participating countries.  This is done, for instance, through the ERNs’ virtual discussion tool (CPMS) that allows clinicians to discuss the most challenging cases.

Furthermore, ERN registries, which collect pseudo-anonymised data on patients with rare diseases, are helping to develop a clear picture of the natural history of the various disorders treated by the ERNs. This may one day make it possible to find new treatments for disorders that are currently untreatable. Very few rare diseases have a therapeutic option available and the ERNs registries make a real contribution to the discovery of new treatments.

ERNs have also helped the EU respond to different crises in recent years, such as the COVID-19 pandemic and the Russian’s war of aggression against Ukraine. A framework has been put in place by the Commission for Ukrainian healthcare providers to seek advice from members of the European Reference Networks on Ukrainian rare or complex disease patients. Moreover, the ERNs undertake collaboration activities, capacity building and best practice sharing for competent Ukrainian authorities and healthcare units.

3. What are the main objectives and expectations for the ongoing grants?

The main objectives are to stabilise and further increase the opportunities that ERNs are creating for the treatment of patients. We also expect to explore future possibilities for better therapeutic and better care options, such as the use of artificial intelligence.

4. What are the main challenges to cross-border cooperation for rare diseases in Europe, and how do the ERN grants help to face these?

There are still some obstacles which hinder effective cross-border cooperation. To face these limits, the ERN coordinators’ group has recently set up specific working groups. At the same time, support to Ukrainian patients has given us a clear example that cross-border cooperation is working. ERNs are not only providing treatments to those patients in countries where they are not available, but are also training referral doctors in order to facilitate knowledge transfer and the implementation of new procedures.

For instance, my hospital, which is part of ERN BOND and is located in Italy, will operate on a patient from another country where the surgical expertise is not currently available. Surgeons from the clinical centre which referred the patient will participate in the surgery after following a specific training. This will allow them to repeat this therapeutic strategy in their home country.

5. How important is the support of EU funding for ERNs?

EU funding is essential: without this support, many of the activities I have mentioned would not be feasible. ERNs have received EU funding since their creation in 2017 and a direct grant of more than €77 million is covering their activities for the period 2023-2027.

There are ongoing actions aimed to raise awareness in EU countries of the importance of ERNs as a strategic initiative  to support rare diseases patients. This is one of the main objectives of the Joint Action on integration of ERNs into national healthcare systems (JARDIN). The support of the EU to ERNs, by facilitating interaction between EU countries, is essential for the existence of ERNs and for the rare disease community.

^{* Prevalence: the proportion of a particular population found to be affected by a medical condition at a specific time}

Background

European Reference Networks

HaDEA manages the 24 ERN grants running from 2023 to 2027 with a total EU contribution of €77.4 million. HaDEA also manages the Joint Action on integration of ERNs into national healthcare systems (JARDIN), for a total EU contribution of €15 million.

HaDEA has also managed the contract on the independent evaluation of ERNs: ERNs evaluation results report – Independent Evaluations of European Reference Networks and of Healthcare Providers – European Commission

EU4Health is the fourth and largest of the EU health programmes. The programme provides funding to national authorities, health organisations and other bodies through grants and public procurement, contributing to a healthier Europe.

HaDEA manages the vast majority of the total EU4Health budget and implements the programme by managing calls for proposals and tenders from 2021 to 2027.