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MetabERN (European Reference Network for Hereditary Metabolic Disorders)

EU-wide reference network connecting 92 specialist centres across 27 countries for inherited metabolic rare diseases

MetabERN (European Reference Network for Hereditary Metabolic Disorders) is one of 24 European Reference Networks established by the European Commission in 2017 under EU Directive 2011/24/EU. It is described as the first pan-metabolic, pan-European, patient-oriented platform for Hereditary Metabolic Disorders (IMDs), operating as a European non-profit network focused on patient-centred care.

The network spans 92 nationally certified healthcare centres across 27 EU Member States and is supported by 41 patient organisations, with endorsement from the Society for the Inborn Errors of Metabolism (SSIEM). It covers more than 1,000 rare inherited metabolic diseases structured into 7 subnetworks, ranging from amino acid and organic acid disorders to lysosomal storage disorders and congenital disorders of glycosylation. Coordination is led by Azienda Sanitaria Universitaria Friuli Centrale (ASUFC) under Prof. Maurizio Scarpa.

MetabERN operates key programmes including the Unified European Registry for IMDs (U-IMD), the first observational pan-European patient registry of its kind, and a Diagnostic, Clinical and Therapeutic Education Programme (DCTEP), the network's first e-learning course. A dedicated Patient Board ensures patient and family voices inform clinical and research directions.

In 2024, MetabERN received positive results in its five-year EU evaluation, with ASUFC confirmed as coordinating centre for a further four years. Innovations in rare disease diagnostics, data registries, cross-border care coordination, or metabolic disease therapeutics are directly relevant to this network's mission and membership.

Ideas that could help MetabERN (European Reference Network for Hereditary Metabolic Disorders)

Pediatric IMD Liver Transplant Harmonization Registry
A shared multicenter clinical registry and protocol-alignment tool for pediatric liver transplantation in inherited metabolic diseases, enabling transplant centers to standardize management protocols and pool outcome data across rare disease subtypes.
Why it helps: MetabERN coordinates care across European rare metabolic disease centers and has an explicit mandate to harmonize clinical guidance—this registry would directly serve its mission and membership.