What is an ERN (European Reference Network)?

The networks are expected to support, and further develop, all possible interactions between the medical teams, in each area of disease (discussion between experts of very complex cases; knowledge generation; fostering research; production of guidelines and clinical recommendations; etc. support the development of national networks of expertise; …) and to facilitate collaboration with patent advocates at all levels.

Coordination and management of each network is funded by the European Commission, that also develops several technical networking facilities, like the Case Patient Management System (CPMS). The CPMS is a secured platform used by medical experts to remotely share expertise with their peers on very complex cases. Indeed, no country alone has the knowledge and capacity to treat all rare and complex conditions.

For a case to be discussed at the level of the whole ERN network, the patient must first be investigated by an accredited reference centre, in collaboration with the patient’s treating physicians. Indeed, because most of these case discussions take place remotely and because we are dealing with rare diseases – highly complex both in terms of diagnosis and treatment options – the data presented to a panel of experts has to be complete (state-of-the-art) and of excellent quality. Any other approach could lead to misinterpretation of the data and a misleading expertise, that could be detrimental to the patient.

The above is one of the reasons why EpiCARE strongly supports the need for national reference networks, in proximity to the patient’s domiciliation and the currently ongoing EU co-funded project, JARDIN.

The creation of a centralized registry (EpiREG) between EpiCARE accredited centres will be a significant asset in the process to better understand the natural history of several rare epilepsies and a useful tool to all stakeholders (clinicians, researchers, Pharma, medical devices development) working for the discovery and development of new treatments. Since the creation of EpiCARE, in 2017, several steps were taken towards such an aim, including the identification of already existing registries and/or databases (the latter usually linked to funded research projects). Notable examples of organizations with rather well-developed databases are the Dravet Syndrome European Federation, and Tuberous Sclerosis (EPISTOP Project).

The EpiCARE experts, together with patient associations, also work for the development of comprehensive documents (Patient Leaflets and Journeys) to be used by carers and families as well as by the treating physicians (family doctors). In the field of rare diseases the development of such documents represent a real challenge, since for many of those complex disorders validated and evidence-based medical knowledge is still scarce of lacking.