MetabERN Italy
MetabERN Italy is the first MetabERN national hub, a pilot project which was established in 2022. The creation of MetabERN Italy paved the way for other European countries to associate and develop national hubs themselves. These hubs could benefit both countries with a high number of centres (such as Spain, Germany, France and Portugal) and small countries that share similar features.
The establishment of national hubs, strongly endorsed by the European Commission, aims to pursue the following goals:
- cluster national initiatives
- provide a central point of contact in each country, ensuring better national coordination
- decentralise ERNs to improve accessibility for patients
- facilitate the integration of ERNs into the National Healthcare Systems
- promote education and awareness initiatives at a national level
- identify differences between Member States and collect input on national priorities
- consolidate regional expert communities in specific domains
Distribution
Half of the Italian regions are covered by MetabERN, having at least one representative HCP within their territory. Italy has 18 healthcare providers involved in MetabERN, which are spread across 10 regions.
Here you can find the list of the HCP that belong to our national hub. Have a look at the map below to see how we are distributed in our country!
HCP
University Hospital Policlinico G.Rodolico-San Marco
Foundation IRCCS CA’Granda Ospedale Maggiore polyclinic – Milan
Foundation polyclinic University A. Gemelli – Rome
AO City of Health and Science – Turin
IRCCS AOU Policlinico “S.Orsola-Malpighi”
AOU University of Campania “Luigi Vanvitelli”
AOU Policlinico Umberto I – Rome
AOU Meyer – Florence
Hospital San Paolo – Milan
AOU Siena
University Hospital of Padova
AOU Federico II – Naples
IRCCS Institute Giannina Gaslini – Genoa
AOUI Verona
Pediatric Hospital Bambino Gesù
Aims and activities
Our national hub consists of healthcare professionals, patient representatives, and experts working together to provide high-quality care and support to patients across Italy.
Our objectives at MetabERN Italy are interconnected with the objectives of the European Network, all aimed at improving the lives of those affected by rare hereditary metabolic disorders. Here you can take a look at what we are doing and what we want to achieve:
- we are collaborating with regional registries and the national registry at CNMR (National Centre for Rare Diseases) to ensure that accurate data is collected and used to improve patient outcomes. We also want to increase the number of Italian MetabERN centres registered in the U-IMD.
- we are creating and updating Diagnostic and Therapeutic Care Pathways (Percorsi Diagnostico Terapeutici e Assistenziali, PDTA)that will guide healthcare professionals in the diagnosis, treatment, and management of rare metabolic disorders, ensuring standardised and optimal care for patients.
- we want to make the Italian system of newborn screening (NBS) an example for other Member States, ensuring that all newborns are screened for metabolic disorders and receive timely interventions.
- We are utilising the CPMS platform to speed up the diagnosis and counseling of selected clinical cases, facilitating collaboration between healthcare professionals.
- We are committed to support patients in their transition from paediatric to adult healthcare, creating a national program and guidelines to ensure a smooth and consistent transition process for adolescents with IMDs.
- We believe that education is a key aspect and we want to ensure that healthcare professionals are equipped with the knowledge and skills to provide the best possible care for patients.
- we are coordinating research efforts in a structured way, extending collaborations to preclinical institutes to advance our understanding of IMDs
We are also aimed to be the referral advisory body for several institutions:
- Istituto Superiore di Sanità – ISS (The Italian National Institute of Health)
- The Ministry of Health,
- The Regional Health Authorities,
- SIMMESN and possibly other Scientific Societies and Organisations
- Local health agencies and hospitals.
- UNIAMO and other patient associations
- Industry and other relevant stakeholders
Coordination team
MetabERN Italy is led by Carlo Dionisi-Vici, paediatrician and Head of the Unit of Metabolic Disease at the Bambino Gesù Children’s Research Hospital in Rome. The coordination team is also composed of Annalisa Sechi (Azienda Sanitaria Universitaria Friuli Centrale, Udine), representing the adult patient area, and Francesca Nardecchia (Policlinico Umberto I, Rome) and Simona Fecarotta (Azienda Ospedaliera Universitaria Federico II, Naples) for the pediatric patient area.
