Conceived as a major event within the initiatives to celebrate the 2020 World Rare Diseases Day, the meeting of the Rare Diseases and European Reference Network was held on 22 February in Pisa, at the Meeting Art & Craft Centre. The main Italian representatives of European Reference Networks were present, as well as representatives from the Italian National Institute of Health (ISS) and patients’ representatives involved in ERNs, the Italian Rare Diseases National Alliance and representatives from ePAG Italy (the group of Italian European Patient Advocacy Group). The meeting offered invaluable contributions and insights into the central role of patients, the good practices from different ERNs in handling rare diseases, the ERNs’ different perspectives on managing rare diseases and their integration into the national health system.

This was the first event in Italy involving so many representatives of different ERNs.

After the greetings from the ERN ReCONNET Coordinator, the meeting opened with a talk by the patients’ representatives (ePAG) of EpiCARE, ERN ReCONNET and ERN-ITHACA and of the National Alliance of Rare Diseases, describing the role of patients in ERNs and the recent foundation of the ePAG Italia group.

This was followed by the Italian coordinators of three ERNs (ERN ReCONNET, ERN Bond and MetabERN) who presented the challenges and perspectives in the management of the ERNs, and by a representative of the ISS who spoke about the ERNs’ involvement in the European Joint Programme on Rare Diseases.

A professor at the Scuola Superiore Sant'Anna and the Chief Administrative Officer of the Azienda Ospedaliero Universitaria Pisana reported on the unique methodology developed by ERN ReCONNET, called RarERN Path, which is currently being applied to create an organisational model for patients’ care pathways. They also highlighted that this methodology can contribute towards better integrating the ERNs’ action into the Italian health system and towards structuring the whole approach to rare diseases on a national basis.

Italian representatives of 20 ERNs then reported on their good practices put in place thanks to the joint work of the ERNs. They unanimously emphasised the need for a quantum leap in the role of ERNs in the context of the national health system, taking into account not only the importance of Italian expert centres for rare diseases already engaged in the ERNs, but also to make the ERN model a reference point for the entire Italian health system and to join efforts to integrate ERNs into the Italian health system. Therefore, the three Italian coordinators have been asked by the Italian representatives to start these discussions with the Italian Ministry of Health and with the relevant institutions.