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.

• Denmark’s med-tech sector receives a boost as Norlase strengthens its position in the global ophthalmic laser market with EIB venture debt financing.
• Norlase will employ the funding for the further development and market access of its innovative portable ophthalmic laser technology.
• The EIB’s financing is backed under the European Commission’s InvestEU initiative.

Med-tech company Norlase, a spin-out of the Technical University of Denmark (DTU), has signed a €20 million venture debt financing with the European Investment Bank (EIB). The funding will support the expansion of Norlase’s innovative ophthalmic laser technology, reinforcing Denmark’s position as a hub for world-class med-tech innovation. Ensuring that European companies developing critical technology have the possibility and funding to grow in the EU, is an important building block in European strategic autonomy. The EIB financing is supported by the European Commission’s InvestEU programme.

“Denmark’s efforts in building up its bio- and med-tech ecosystem are definitely paying dividends today. Like other Danish companies we recently financed, Norlase’s technology is top of its class and a real example of excellence in European innovation.” said EIB Vice-President Ioannis Tsakiris. “With the support of InvestEU, the EIB finances projects that advance state-of-the-art medical treatment, and this funding aims to enhance the position of Norlase as a European med-tech champion.”

“As the patient burden continues to grow, the need to accelerate technological innovation in eye care has never been greater. With four product launches in just five years and rapid adoption by the ophthalmic community, Norlase is leading this transformation,” said Norlase CEO and Co-founder Oliver Hvidt. “This funding from the EIB allows us to scale our global presence and push even further beyond the limits of existing technology, solidifying Norlase’s role as a leader in the future of eye care. We’re just getting started.”

The Head of the European Commission Representation to Denmark, Per Haugaard, added: “It’s crucial that European companies develop critical technology and that we secure investments in med-tech companies like Norlase across the continent.”

On a technical level, the financing will support the development and market access of Norlase’s innovative portable ophthalmic lasers, designed to diagnose and treat causes of vision loss and blindness. The project focuses on advancing novel ophthalmic laser technologies and expanding production facilities to support increased demand. The company recently launched its fourth and most innovative device, LYNX, which can reduce treatment time by more than 50%, setting new standards for efficiency, accessibility, and precision in ophthalmic laser treatments.

Background information

The European Investment Bank is the long-term lending institution of the European Union, owned by its Member States. It finances investments that contribute to EU policy objectives. EIB projects bolster competitiveness, drive innovation, promote sustainable development, enhance social and territorial cohesion, contribute to peace and security, and support a just and swift transition to climate neutrality. The Group’s AAA rating allows it to borrow at favourable conditions on the global markets, benefiting its clients within the European Union and beyond. The Group has the highest ESG standards and a tier one capital ratio of 32%.

High-quality, up-to-date photos of our headquarters for media use are available here.

The InvestEU programme provides the European Union with crucial long-term funding by leveraging substantial private and public funds in support of a sustainable economy. It helps generate additional investments in line with EU policy priorities, such as the European Green Deal, the digital transition and support for small and medium-sized enterprises. InvestEU brings all EU financial instruments together under one roof, making funding for investment projects in Europe simpler, more efficient, and more flexible. The programme consists of three components: the InvestEU Fund, the InvestEU Advisory Hub, and the InvestEU Portal. The InvestEU Fund is implemented through financial partners who invest in projects using the EU budget guarantee of €26.2 billion. This guarantee increases their risk-bearing capacity, thus mobilising at least €372 billion in additional investment.

Norlase was founded in Denmark to commercialize patented laser technology developed at the Technical University of Denmark (DTU) and its products are now in use in the top ophthalmic hospitals globally.