An ERN for Inherited Metabolic Disorders (IMD)

In complex or rare medical conditions, highly specialised healthcare is necessary. European Reference Networks (ERNs) shall bring together specialists from all across Europe to concentrate knowledge and resources. This will provide better care for patients in all of the 28 health systems of the European Union, lead to greater economy of treatment, and help developing more evidence-based clinical tools and treatments.

In response to the European Commission’s call for the establishment of ERNs, Prof. M. Scarpa, President of the Brains for Brain Foundation and coordinator of the InNerMeD-I-Network, initiated a discussion regarding the creation of a European Reference Network for inherited metabolic disorders grouping the best centres with high expertise in diagnosis, therapy and clinical management. Such action is aimed to create a network of expert centres in rare diseases, to favour exchange of patients, registries, treatment and clinical trials, to share expertise, guidelines and recommendations, data and awareness allowing all patients an homogenous treatment at EU level.

Inherited neurometabolic disorders - Workshop Lyon 2015To properly prosecute the discussion and define the structure of the proposed network and the collaboration with other initiatives, a dedicated workshop has been organised inside the Lyon Convention Centre, in occasion of the SSIEM Annual Symposium 2015 in Lyon, on Thursday, 3rd September. About 60 referral experts and clinicians have been involved in the network and most of them attended the meeting actively discussing the pros and cons of establishing an overarching metabolic ERN, identifying a strategy to proceed for harmonizing the collaboration with other networks. The number of participants and the range of the countries they represented attested the broad support that exists for this new effort.

During these meetings it was highlighted that, to ensure that affected patients are given the priority they deserve and that their needs in receiving better diagnosis, treatment and management are met, it is imperative to join efforts in the creation of a European Reference Network on Storage inherited Metabolic  Disorders (IMDs). Considering the complexity of the IMDs field as a whole, it was also shared the concept that it is crucial to create additional core networks of experts interested in homogenous IMDs categories that, through combining their complementary expertise, can comply with the broader IMDs Network interest in facilitating patients access to safe and high-quality cross-border healthcare and ensuring patient mobility in Europe.

Such context gave origin to the establishment of the Metab-ERN conceptual idea that has matured in the following weeks representing today a concrete action. The purpose of Metab-ERN will be to interconnect Centres of Excellence engaged in research and healthcare provision for patients with rare inherited metabolic disorders. The network will serve as a mean to create synergies between existing networks to maximize the health outcomes of patients living with rare neurometabolic diseases. InNerMeD will be one of the several networks participating in the implementation of Metab-ERN. Currently, the group also includes the European registry and network for Intoxication type Metabolic Diseases (E-IMD) and the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD). All three networks are European projects, financed under the Second Health Programme, that bring together scientific communities, health professionals, patients, patient associations, public health authorities, pharmaceutical companies and other interested parties. The proposed Metab-ERN is an initial and open network, hoping to invite other partners and networks interested and active in the area of inherited metabolic diseases and care to provide contributions and become members of the partnership. So far, conversations for membership of Metab-ERN are underway with partners form 20 EU countries. In such context, the InNerMeD project coordinator, Prof. Maurizio Scarpa, on behalf of all InNerMeD partners will present the poster entitled “Metab-ERN: Putting patients at the heart of hereditary rare disease care” that will be exposed at the 2nd European Reference Networks Conference (Lisbon, 8-9 October 2015). During the same meeting Prof. Scarpa will also participate as an invited expert at the “Workshop 3 – Clinical Research In a Network Environment” giving the talk “Expert in clinical trials in rare diseases” on 9th October, 2015. The meeting will represent a great occasion to network with key players, take contact with further institutions and invite them to become network partners.