Italy was one of the first Member States (MS) in the European Union (EU) to regulate the field of rare diseases (RD). Since 2001, many initiatives were carried out at central and regional level. The development of a national plan or strategy for RD stems from the necessity to fulfill the EU Commission Recommendation to MS to adopt national plans or strategies for RD by the end of 20131. However, the adoption of a systematic measure, logical and coherent with planned strategies and actions at all levels, was demanded by national stakeholders in the field of RD. The first version of the document was drafted by the General Directorate of Planning at the Ministry of Health (MoH) in collaboration with small groups of experts. It was submitted to all the stakeholders (patient and family organisations, healthcare professionals and professional bodies) during a brief consultation process. The document considered also previous requests from the National Board of Patients with RD (http://www.cndmr-insieme.it/) and patient organisations (Federation of the Organisations of the Italian Patients with RDs - UNIAMO and Italian Movement of Rare Patients - MIR). These requests had been previously presented at the final national conference of the EUROPLAN project in 20122.