MetabERN is entirely patient and expert-led. It is composed of 69 certified Health Care Providers (HCPs) endorsed by the Ministries of Health from 18 European Member States. Additional Members, bearing the endorsement of the proper national agency and fulfilling the European Commission’s requirements, will be admitted after the approval of the network by the EC.
At its functional level, the MetabERN is composed of 7 Sub-networks, each covering a different group of rare inherited metabolic diseases (IMDs). As known, in fact, IMDs are a group of more than 700 genetic and often lethal disorders affecting children and adults. All IMDs, with no exclusion, are of interest for the MetabERN, independently from their prevalence, frequency and existing previous interest for research or therapy development. Therefore, considering the complexity of the IMDs field as a whole the metabolic disorders have been divided in the following 7 disorder groups that are the basis of the MetabERN subnetworks.
- Amino and organic acids-related disorders (AOA)
- Disorder of pyruvate metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD)
- Carbohydrate, fatty acid oxidation and ketone bodies disorders (C-FAO)
- Lysosomal storage disorders (LSD)
- Peroxisomal disorders (PD)
- Congenital disorders of glycosylation and disorders of intracellular trafficking (CDG)
- Disorders of Neuromodulators and Other Small Molecules (NOMS)
Each member of MetabERN holds a role in one or several of the identified governance bodies, including the MetabERN Board (all members) as well as at least one of the disease specific sub-groups and at least one of the thematic committees spanning all disease-specific sub-groups, in which professionals and patient/family associations will collaborate within the specific disease group/disease but also to transversal programs common to all subnetworks.