WHO WE ARE

MetabERN is a European non-profit network. The EU established the network to facilitate access to the best available care and address the needs across borders for all patients and their families affected by rare inherited metabolic rare diseases (IMDs). This network wants to provide EU-wide services aimed at improving the quality of life of patients and families. For that, we connect the most specialised centres in rare IMDs to promote prevention, accelerate diagnosis and improve standards of care across Europe for patients living with IMDs.

MetabERN is entirely led by patients and experts. Combining patient experience and expert knowledge from across the EU captures the most innovative medical advances and tailors them to patient needs.

Our Vision

Our focus is on establishing a growing and developing network to improve the lives of patients affected by rare inherited metabolic disorders (IMDs).

Our Mission

To identify and bring together the best expertise from across Europe to facilitate prevention, diagnosis, management, research and access to the best available care for patients affected by rare inherited metabolic diseases.

Our Aims

Pool knowledge and improve information exchange between network members;
Improve diagnosis and care in disease areas where expertise is rare;
Support all Member States to provide highly specialised care to patients affected by IMDs;
Advance innovation in medical science and health technologies for IMDs;
Provide cross-border medical training and research on IMDs;
Support all patient initiatives towards harmonising and improving all aspects of the care chain.

Structure and Governance

IMDs are a group of more than 1400 genetic disorders affecting children and adults. Considering the complexity of the IMDs field as a whole, metabolic disorders have been divided into 7 disorder groups, which 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.

Medical Centres Cooperating with MetabERN

MetabERN represents 92 nationally certified Healthcare Providers and 41 Patients Organisations from 27 European Member States

and is endorsed by the Society for the Inborn Errors of Metabolism (SSIEM).

VIEW SPECIALISED CENTRES

Coordinator

Vice Coordinators

Maurizio Scarpa, MD, PhD

Director, Coordinating Center for Rare Diseases, Azienda Sanitaria Universitaria Friuli Centrale, Udine, Italy

Prof Scarpa earned his medical degree and doctorate and completed his residency in Paediatrics at the University of Padova. He completed a postdoctor [...]

STEFAN KÖLKER, MD

Centre for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Germany

He graduated in Medicine at the University of Marburg, Germany, and qualified as Pediatrician at the University Hospitals in Marburg and Heidelberg, G [...]

Ans van der Ploeg

Center for Lysosomal and Metabolic Diseases, Erasmus MC University Hospital Rotterdam, The Netherlands

Ans van der Ploeg, professor of Metabolic Diseases, is Chair of the Center for Lysosomal and Metabolic Diseases at the Erasmus MC University, Rotterda [...]

CINZIA MARIA BELLETTATO

MetabERN Project Manager

Francesca D’Avanzo

Data Manager

Elisa Devetta

Stakeholder Manager

Epaminondas La Bella

Communications Manager

Simon Bond

Patient Board Project Manager

Stakeholders and Supporters

MetabERN involves an excellent concentration of competencies, combining different skills and expertise.
Besides the members’ significant commitment, collaborating partners contribute to promoting or developing the projects and activities, adding their specific capacities in terms of knowledge management and implementation of the network-related activities.