European Reference Networks: Progress to date and expectations for 2018

2017 was an important year for the 24 European Reference Networks (ERNs): it was the year in which the Networks were officially launched (at the annual conference in Vilnius in March 2017) and in which they began to address their multiple responsibilities as Networks spanning the domains of care and research for rare diseases/conditions requiring a concentration of expertise. 2018, however, will be the year in which the core clinical activities of the ERNs really take shape, and exciting developments lie ahead.

Virtual Patient Care
The ERNs now all have access to a dedicated Clinical Patient Management System (CPMS), through which to provide virtual, cross-expert and cross-border consultations for real patients whose cases warrant the pooling of knowledge across the ERN community. Virtual case review has been acknowledged as being the heart of the ERNs and a way to bring advice to professionals both inside and outside of the Network’s member centres (Health Care Providers, or HCPs) and support them by recommending routes to diagnosis, advising on optimal care and treatment regimes, assessing suitability for surgery, etc. The CPMS was delivered via a Tendering process, in which the successful bid was led by OpenApp (a software company based in Dublin, specialising in innovative healthcare solutions). The System was launched in November 2017 and, to-date, 47 patients have been referred via the CPMS (with an expectation that this figure will rise to 120 by the end of February).

Chair of the ERN Coordinators’ Group (see below) Maurizio Scarpa, explains that “for the first time, we have a platform that can be used in all European Member States /EEA countries, to discuss and review these unique and complex cases”.

Adaptations and improvements are foreseen to the CPMS over the next year, in-line with the expressed needs of the community (for instance, there should hopefully be opportunities to implement the sorts of tools and resources highlighted in the Recommended Practices for Data Standardisation in the Context of the Operations of ERNs.) It is already possible to involve experts from across different ERNs in the virtual consultations. Important next steps, as the volume of data entered to this system increases, will be strategic decisions on how to link such data with valuable data housed in other -currently separate- resources, such as registries of value to the ERNs’ sphere of expertise, electronic health records, biobanks, and more.

Data Integration and Interoperability
This question of data interoperability and ‘linkability’ will be an important focus of 5 ERN-specific grants awarded last year through the Public Health Programme. A Call had been launched, to provide ‘support for new registries’ based upon ERNs. There are fundamental questions concerning how ERNs can make the best use of the (often fragmented and not interoperable) disease-focused registries that exist under the broad Thematic Groups around which the ERNs are arranged:

  • How can existing collections ‘speak’ to each other and enable the pooling of this data (or at least the querying of these collections at a metadata level, to see what sort of data is there)?
  • Where are the gaps/where might new registries be desirable?
  • How should these new registries be built to optimise the value and usability of prospective -and ideally legacy- data?

Several initiatives are exploring how to integrate data pertaining to rare disease registries (see for instance Overview Report on the State of the Art of Rare Disease Activities in Europe, section 3.1.1 ).

In the meantime, the rare disease community congratulates the successful ERNs and looks forward to the outcomes of these new projects:

Financial Support for ERNs
Importantly, the European Commission continues to provide non-competitive funding opportunities to all of the Networks, which are essential to the operations of the ERNs. Very recently, the ERNs submitted applications for their second year of Coordination funding, and the 2018 Public Health Programme dedicates 13.8 Million Euros to the Networks (cumulatively) in ‘Multiannual specific grant agreements for European Reference Networks’ for the subsequent 3 years. Later this year, the Networks expect to receive the outcomes of applications to a Call launched via the Connecting Europe Facility (CEF), to support the ERNs in engaging with and using the CPMS. This Call offered a maximum of 9 Million Euros, cumulatively.

Governance Structures of the ERN Coordinators
ERNs are excellent example of pan-European collaboration, uniting many different stakeholder groups: as such, they are a very attractive resource for future collaborations with many actors, as they touch-upon many topics under the rare disease ‘umbrella’ and indeed are ‘ripe’ for expansion beyond, into fields such as data-stewardship and interoperability, eHealth and mHealth, paediatrics, and patient empowerment. It is therefore important for these wider communities to understand the governance model of the 24 ERNs, which was developed in mid-2017, to ensure collaboration and avoid duplication of efforts in many key areas of activity. Recognising the sheer number of ERNs, and the need to strategically oversee representation at meetings and events with a relevance to all Networks, the ERN Coordinators Group (ECG) was formed, headed by a rotating Chair. Maurizio Scarpa, Coordinator of the MetabERN, is Current Chair of the ECG and Franz Schafer (ERK-NET) is the Vice Chair. The Coordinators organised themselves into dedicated Working Groups on the following topics:


This is a good way for the Coordinators to pool efforts, prepare documents, and agree on a common approach to core organisational issues (such as the future expansion of the Networks) and strategic matters, (such as how to engage with Pharmaceutical and Medical Devices Companies via an ERN ‘code of conduct’).

Multistakeholder Collaborations
The ERN Coordinators’ Group meets several times per year, typically back-to-back with the meetings of the ERN Board of Member States. The Minutes of the Board of Member States meeting are published and available here.) As Maurizio explains, “The ERN Coordinators’ Group demonstrates the spirit of unity and dedication which exists between the ERN Coordinators – there is a strong collaboration with the Board of Member States, and the support from the European Commission -and indeed, from Commissioner Andriukaitis himself- remains very significant.”

(See for instance the foreword to the Official ERN brochure, in which the Commissioner for Health and Food Safety expresses his hopes that “ERNs will provide concrete results for tens of thousands of rare disease patients so that they are no longer looking for answers in the dark, and can benefit from the best expertise available in Europe so they may live longer and healthier lives”.) A very notable and important feature of the ERNs is the central involvement of patients, at all levels of activity.

Following the Workshop on ERNs and Clinical Practice Guidelines, several outputs (including Recommended Practices relating to Clinical Practice Guideline activities) are in preparation, through the partnership between the RD-ACTION organisers and the ERN Working Group on Guidelines, Education and Training in particular. Two more workshops of particular relevance to ERNs will be organised before the end of the Joint Action: one on Integrated, holistic care for RD (which will explore how ERNs can add value to the sorts of practices identified via the INNOVCare project, which is co-organising this workshop); and one on ERN added-value to clinical research. Meanwhile, the activities of partner EURORDIS continues to foster engagement of patients via the ePAGs (European Patient Advisory groups), which now number around 150.

Future Expansion of ERNs
An important topic for 2018 will be how to manage the expansion of the 24 ERNs, in terms of launching a call for new Member HCPs and also agreeing how to bestow the status of ‘affiliated’ partners, as outlined in the Legal Acts governing ERN operations.  It will be important for the ERNs to accrue new members in a logical, strategic way, to meet the goal of ensuring -through stepwise development- a comprehensive coverage of all rare conditions, and also to maximise geographical coverage by encouraging all eligible countries to participate (ideally via a limited number of HCPs to activate a ‘hub and spoke’ model, engaging all national experts via these select member HCPs). The timing of the next call for membership is not confirmed, as the Board of Member States, DG Santé, and the ERN Coordinators are in discussion to agree the best way forward.

ERN Communication Activities
The DG Santé team maintains a very valuable suite of resources on the 24 Networks: fact-sheets on each, and the links to the individual ERN websites, can be found here. Many ERNs also have a strong social media presence, including Twitter accounts, which is a good way to follow their activities.

(source: OrphaNews Feb 9, 2018)