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ERN e malattie rare: il report dell’Incisive Health Morning Club co-organizzato da Nomos, in collaborazione con Pharma Value

ERN e malattie rare - report

Il 20 maggio si è tenuto l’Incisive Health Morning Club co-organizzato da Nomos Centro Studi Parlamentari e Pharma Value in collaborazione con The Health Link, un network di esperti di policy e comunicazione in sanità, di cui Nomos è partner.

Un panel di esperti ha discusso di reti di riferimento europee (ERN) e tutela dei pazienti affetti da malattie rare:

  • Dr. Holm Graessner, European Reference Network for Rare Neurological Diseases
  • Prof. Robert Nisticò, Committee for Orphan Medicinal Products (COMP), EMA
  • Dominique Sturz, Alliance Pro Rare
  • Dr. Matthias Wilken, Bundesverband der Pharmazeutischen Industrie

Di seguito il report di Incisive Health, l’agenzia capofila di The Health Link

Patients with rare or complex, life-threatening diseases often face challenges in obtaining a correct diagnosis and in accessing appropriate therapies and clinical expertise. European Reference Networks (ERNs) enable knowledge sharing and care coordination across the EU. They were founded on the principle that a pan-European approach will benefit patients with complex and rare diseases by facilitating access to correct diagnosis, to the right therapies and clinical expertise. Set up by the 2011 Directive on the application of patients’ rights in cross-border healthcare and launched in 2017, ERNs have since played a crucial role in improving the lives of rare disease patients.

ERNs cover a wide range of conditions, from neurological disorders to blood diseases, from childhood cancer to immunodeficiency. They facilitate access to diagnosis, treatment and provision of high-quality healthcare. In this sense, ERNs are a European success story which deserves to be repeated over and again.

Yet, ERNs still face important challenges that prevent them from reaching their full potential – from a lack of legal status to significant differences in their use by Member States. The ongoing public consultation on the revision of the EU legislation on Orphan Medicinal Products (OMPs), which looks at reshaping the policy and regulatory framework around rare diseases, may provide another opportunity to address some of the challenges faced by ERNs.

The fourth edition of the Incisive Health Morning Club was organised in collaboration with The Health Link, our network of partners in Europe and beyond. It called on four experts from different countries to explore how the EU and the Member States could further strengthen the ERN framework to better support rare disease patients in Europe:

Dr. Holm Graessner (Coordinator of the ERN for Rare Neurological Diseases, Institute of Medical Genetic and Applied Genomics at University Hospital Tübingen), Dominique Sturz (Vice-Chair of Pro Rare Austria – Austrian Rare Disease Alliance), Prof. Robert Nisticò (Member of the EMA Committee for Orphan Medicinal Products, Professor of Pharmacology at University of Rome Tor Vergata) and Dr. Matthias Wilken (Head of Market Access at Bundesverband der Pharmazeutischen Industrie, BPI).

ERNs – A success story so far…

“ERNs are a success story from a patient perspective. Nevertheless, the establishment of ERNs, preceded by the Cross Border Healthcare Directive from 2011, dates back to 2017. So it is high time to identify where we need to take the policies and strategies to the next level and adapt the political framework. We also have to remember that we have treatments for only 5% of Rare Diseases” – Dominique Sturz, Pro Rare Austria

By cooperating and exchanging life-saving knowledge at European and national level, ERNs are designed to enable patient access to the best expertise available. Patient representatives play a crucial role in this process by facilitating the exchange of information, collecting feedback from patient groups at national level as well as directly from patients and their families and participating in the creation or maintenance of registries and Clinical Practice Guidelines.

“ERNs provide important information on the two criteria the Committee for Orphan Medicinal Products considers when granting a positive opinion for orphan designation” – Prof. Robert Nisticò, EMA Committee for Orphan Medicinal Products

Rare diseases are unique and poorly understood. Since prevalence is low, opportunities to study the disease and to develop treatments are also more limited. One of the missions of the European Medicines Agency’s (EMA) Committee for Orphan Medicinal Products (COMP) is to offer incentives to encourage companies to research and develop medicines for rare diseases, which otherwise would not be developed. ERNs facilitate the COMP’s work by providing access to knowledge and implementation of clinical standards and guidelines as well as by creating and maintaining registries, biobanks, and databases of biomedical and clinical research.

…which is currently hampered by several challenges

All speakers agreed that there remain considerable challenges to unlock the full potential of ERNs. Progress is still limited in areas of greatest unmet medical need for patients. Moreover, many ERNs have incomplete geographic coverage and they do not cover the full range of rare diseases.

“ERNs are under-utilised when it comes to accelerating patient access to care. Relevant stakeholders have a low level of awareness of their rights and possibility to access health services abroad and of the existence of National Contact Points” – Dr. Matthias Wilken, Bundesverband der Pharmazeutischen Industrie (BPI)

As pricing and reimbursement policies remain Member States’ exclusive competence, important discrepancies persist within the EU that effectively prevent patients from having equal access to treatment and care. A lack of legal status and lack of a clear data strategy are other significant obstacles that need to be overcome.

One of the aims of the 2011 Directive on the application of patients’ rights in cross-border healthcare was to make sure that EU citizens would have the right to access healthcare in any EU country and that they would be reimbursed for care abroad by their own country. However, the low awareness of patients of these rights shows that the directive has failed to some extent and that benefits of cross-border healthcare in the EU are hindered.

More decisive policy action is needed to strengthen ERNs to better support rare disease patients

As emphasised by Dr. Wilken, many aspects of the cross-border healthcare directive need to be updated in order to achieve better quality care for all patients. This includes stronger European cooperation in crucial areas such as quality and safety, HTA, eHealth and rare diseases. From a national perspective, there is also a need to integrate the ERNs better at the level of national healthcare systems.

“ERN registries should be connected to respective hospital information systems and national registries’ infrastructures” – Dr. Graessner, ERN for Rare Neurological Diseases

Interconnectivity will be important, to ensure that data on epidemiology and quality of care can be collected at EU level and exchanged across borders as well as information systems. The creation of the European Health Data Space can allow a better understanding and a better definition of rare diseases and of rare disease conditions by promoting better access to different types of data, such as electronic health records and genomics data.

Linking clinical trials to ERNs could help increase quality standards of clinical trials and could ultimately help better understand and refine rare diseases and rare disease conditions.

ERNs are also still too limited. From a patient perspective, ERNs need to go beyond diagnosis and medical treatment, for example by increasing psychological support or by assessing the healthcare experience of patients living with a rare disease and their caregivers – important points raised in a recent survey published by EURORDIS on the healthcare experience of people living with a rare disease.

“We will absolutely need to get the legislation on EU level right, but we also need Member States’ political will to strengthen their healthcare systems. Some countries have perfect national reference networks with clear, transparent and understandable referral pathways, and with clear mission and goals with dedicated budgets. Some countries are better than others” – Dominique Sturz, Pro Rare Austria

In the current context, in which the EU legislation on Orphan Medicinal Products will soon be updated and rare diseases are high on the political agenda, the discussion on ERNs will be a relevant one. Incisive Health will continue to monitor these developments and support clients and stakeholders in navigating this space. Please contact us if you wish to continue the conversation on the ERNs.
About the Incisive Health Morning Club
The Morning Club is a unique opportunity for experts to collaboratively shed light on key EU health policy topics, including those that are less debated in the public sphere and that could be further prioritised by policy makers. With this platform, Incisive Health gives a voice to patients, healthcare professionals, industry representatives, academia, and other key stakeholders on topics such as the future of brain health policy in Europe, the implementation challenges relating to new In Vitro Diagnostic Medical Device Regulation, the need to increase plasma donations across Europe. Feel free to contact us to discuss a topic that you would like to see included in our 2021 Morning Club calendar.

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