Positive Results for MetabERN and ASUFC in the Five-Year Evaluation Process of European Reference Networks (ERN)

Double success for MetabERN, the European Reference Network for Rare Metabolic Diseases, coordinated by Prof. Maurizio Scarpa, and its coordinating centre, Azienda Universitaria Friuli Centrale (ASUFC), as they have received positive preliminary results in the five-year evaluation process of European Reference Networks (ERN).

The evaluation team, which has been working since November 2022 to assess the activities of each ERN  and healthcare provider over the past five years, has recognised the significant efforts made by MetabERN to optimise collaborations among member centres and professionals (approximately 3,000 specialist physicians) united by the shared goal of improving treatment and care for all patients affected by rare metabolic disorders in Europe and worldwide. The achievements of ASUFC and the MetabERN network in identifying and uniting the best expertise from across Europe to facilitate prevention, diagnosis, management, research, and access to the best available care for patients with rare inherited metabolic diseases have been highly acknowledged. To date, MetabERN has provided care for approximately 80,000 patients.

The fact that the network has structured its governance with well-defined roles and responsibilities of the different bodies has been well appreciated. The key principle of MetabERN is to reach a consensus between all involved stakeholders to implement all activities. It has been realised that MetabERN has carried out an enormous amount of work during the last five years that has allowed to complete all the activities planned. To pinpoint some of them:

• The ERN registry (Unified European Registry for Inherited Metabolic Disorders) with more than 3.000 entries
• The guidelines produced during these years in different groups of metabolic inherited diseases, and the ones ongoing
• The high activity in the CPMS in all 27 states
• The quality, safety, and research standards
• The high education and training activities, including the accredited Diagnostic, Clinical and Therapeutic Education Programme (DCTEP) on IMDs 
• The patient association relationship of the ERN, but also of many of the HCPs belonging to MetabERN.

Furthermore, the evaluators have declared that MetabERN serves as a model for addressing critical issues in rare diseases within the ERN system, such as patient-centred care, high expertise, safety and effectiveness of procedures, research, and training. The registry, guidelines, telemedicine development, and educational activities have been deemed remarkable and serve as a model for other ERNs as well.

ASUFC (the MetabERN coordinating centre) has also been recognized as a high-quality healthcare provider (HCP) representing a regional, national, and European centre of excellence for the diagnosis and extended treatment of metabolic diseases, catering to both Italian and international patients. As such, ASUFC will continue to serve as the coordinating centre for MetabERN for the next four years. ASUFC has gained a considerable international reputation, and its multidisciplinary team has been acknowledged as a global leader for several subgroups of metabolic diseases.

Prof. Maurizio Scarpa, the coordinator of MetabERN, stated: “We are grateful that the evaluation team recognizes the significant effort made by MetabERN in achieving its established goals over the past five years. The successful participation of healthcare centres within the network, professionals, and patient representatives has made this possible. We take pride in the recognition of our work in the areas of registry, guidelines, telemedicine, and training, which are considered notable and desirable even in other ERNs. We would like to thank all representatives of MetabERN and ASUFC for their deep commitment, collaboration, and support, which have been fundamental to the successes achieved by MetabERN and its coordinating centre, ASUFC.”.