European Reference Networks (ERNs) are virtual networks involving Healthcare Providers (HCPs) across Europe. They aim to tackle complex or rare diseases and conditions that require highly specialised treatment and a concentration of knowledge and resources. They represent a major innovation in care for Europe’s 30 million rare disease patients. There are 24 ERNs involving 25 EU Member States plus Norway, over 300 hospitals with over 900 healthcare units and covering all major disease groups.

Between 6,000 and 8,000 rare diseases affect an estimated 30 million people in the EU and frequently a lack of specialist knowledge for specific rare diseases means patients can miss out on diagnosis and treatment options in their own country.

By consolidating knowledge and expertise scattered across countries, ERNs give HCPs access to a much larger pool of expertise. This will result in better chances for patients to receive an accurate diagnosis and advice on the best treatment for their specific condition. This way it is the medical knowledge and expertise that travel rather than the patients, who have the comfort of staying in their supportive home environments.

What is MetabERN? It is the first comprehensive, pan-metabolic, pan-European, patient-orientated platform ever conceived, aimed to improve the lives of people affected by this highly heterogenous group of diseases.

MetabERN represents 69 founding HCPs from 18 European Member States and 44 patient organisations, and is endorsed by the Society for the Inborn Errors of Metabolism (SSIEM).

MetabERN involves 1681 experts, of which about 52% are specialized medical doctors (particularly paediatricians, geneticists, neurologists and metabolic physicians).

Over 42,000 patients are followed by the MetabERN centres, 68% of which represented by pediatric patients. More than half of the patients are affected by lysosomal disorders or amino acid and organic acids-related disorders diseases (23% and 39% respectively).

All IMDs, with no exclusion, are of interest for the MetabERN.

What is the strategy of MetabERN?

By connecting the most specialised centres in the area of rare IMDs, MetabERN aims to promote prevention, accelerate diagnosis and improve standards of care across Europe for patients living with IMDs. By pooling knowledge and improving information exchange between centres, MetabERN also aims to transfer knowledge in EU Member States where there is an insufficient number of patients and/or lack of knowledge to ensure highly specialised care to patients affected by IMDs and advance innovation in medical science and health technologies in this area.

The network is setting up an inventory of IMDs, developing patient information and training sessions, advancing collaborative diagnosis and treatment of rare or low prevalence complex diseases or conditions across national borders and establishing a long-term referral point bringing expertise to patients. These activities are supported by the Clinical Patient Management System (CPMS), a secure web-based application provided by the European Commission that enables health professionals from the ERNs to discuss complex cross-border cases in a multidisciplinary way ensuring that the needed expertise can travel to the patient, instead of the other way around.

MetabERN will foster translational research programmes across IMDs sharing knowledge within the network and beyond by expanding to additional regions and countries. MetabERN is also fostering collaboration with other approved ERNs in disease areas where overlapping exists to share knowledge even further.

How is MetabERN contributing to the U-IMD registry?

MetabERN, thanks to its strong networking structure encompassing all IMDs, guarantees the sharing and merging of a unique set of information which is otherwise difficult to obtain and assures a global sharing of the methodological and operational expertise that is instrumental to support the establishment of a common registry.

The U-IMD registry will be a major tool for conducting patient-centred annual activities of the MetabERN subnetworks since this central patient registry enables standardized follow-up and entry of patient data across all IMDs as well as different countries and centres.

Patients with IMDs often present with multiple organ manifestions. For this reason, collaboration with other ERNs is indispensable to achieve the goals of MetabERN. Since kidney malformations, acute and chronic renal disease, and tubulopathies are frequently found in IMD patients and since extracorporeal detoxification is used in the acute setting of metabolic decompensation as well as for IMD patients with chronic kidney disease, MetabERN and U-IMD closely and actively collaborate with the ERN for Rare Kidney Diseases (ERKNet). ERKNet is a consortium of 38 expert paediatric and adult nephrology centers in 12 European countries providing healthcare for more than 40,000 patients with rare kidney disorders. The two ERNs have already identified an important common field for interdisciplinary research and collaboration and, in an unprecedented collaborative effort, are joining forces to develop a standard for minimal core data sets to be used by both ERNs alike, thus reaching for a maximum level of interoperability of patient records.

The sharing of these goals and objectives between the two networks will positively influence the natural disease course of IMDs and adds value to the networks involved.

For more information, please visit http://metab.ern-net.eu/about-us/.