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Summary of Rare Disease Activities in Italy*

(Full Report accessible below)

Italy’s National Health Plans have, from the 1998 – 2000 incarnation onwards, identified rare diseases as a public health priority, with 3 main actions having been identified:

  • To guarantee to all citizens a correct and early diagnosis
  • To disseminate all available scientific knowledge
  • To support basic and clinical research

The National Health Plan (NHP) 2013-2016 officially adopted the EU definition of a rare disease. The national rare disease decree (Ministerial decree n.279/2001) currently in force contains an annex listing 546 rare diseases or groups of diseases. The list establishes which patients are entitled to benefits and access to care. Italy has officially adopted a National Plan for Rare Diseases with a time-frame of three years, from 2013 to 2016. The NP was further adopted through a formal agreement between the State and the regions in October 2014 (rep. ATTI 140/2014). There is no associated funding for the National Plan. Italy uses ICD9 to code disease in the health system, but one of the Identified actions in the Plan is the planning and experimental adoption of the OrphaCode in addition to ICD coding. A working group was appointed to oversee the drafting of the NP but evaluation of its implementation was not part of this mandate. RD are strongly addressed in Italian legislation.

The first regulation identifying specific measures for rare disease patients was the Ministerial Decree no.279 issued in 2001. This regulation had various priorities, including the following; definition of an official list of rare diseases (patients with these specific conditions are entitled to receive special benefits); Regional efforts to label centres of expertise for RD, via official acts; the implementation of a national monitoring systems and national registry, based at the National Institute of Health (ISS).

In the years following decree 2001, given the decentralised Italian healthcare system scenario, Regions selected and officially labelled the Centres of Expertise dedicated to a single rare disease or groups of rare diseases. However, to address the resulting variation, the RD National Plan 2013-2016 established national criteria to designate a centre of expertise for rare disease, which accord with the EUCERD criteria. 199 CEs have been designated across Italy, which equates to 3 per million inhabitants. All reportedly fulfil the EUCERD criteria. Two Italian HCPs now coordinate ERNs (namely the ERNs for Rare Bone Disorders, and the ERNs for Rare Connective Tissue and Musculoskeletal disorders and a further 40 HCPs participate in ERNs as full members.

There are both regional and national registries for rare disease within Italy. Regulations and laws have been established which work to govern the registries, beginning with Ministerial Decree 18th May 2001 No 279 which assigned Regions the task of setting-up specific registries. These registries are linked to the national rare disease registry, based at the ISS, and their goal was to support and monitor the national and regional interventions put in place to address rare diseases. According to the agreement between the State and Regions (10 May 2007) part of the data collected by the regional/interregional registries is periodically sent to the National rare disease registry. According to Orphanet, over 70 RD registries are operational in Italy. 11 regional registries out of a possible 19 in Italy use Orpha-codes. Italy’s New-born screening programme is currently expanding: 14 Regions, out of 21, guarantee with their own resources expanded NBS for between 25 and 58 inherited metabolic disorders. In August 2016 the Italian Parliament issued Law no. 998 which grants the expanded neonatal screening to all Italian Regions. Simultaneously, a Ministerial Decree on expanded new-born screening is concluding its legislative path and will identify a common list of disorders to be included in the screening programme. Italy provides in-country genetic tests for 1361 rare diseases, corresponding to 1355 genes (gene panels excluded).

Research projects for RD are granted by various bodies, and Italy participates both in E-Rare and IRDiRC. The Italian Medicines Agency (AIFA) is the main body in charge of introducing OMPs into the Italian market. In recent years, the total number of orphan drugs available in Italy has increased from 44 in 2012 to 66 in 2015 (now up to 89 as of the end of 2016). Out of the 87 orphan drugs approved in the EU, 76% were available in Italy at the end of 2015, including 13 products still undergoing negotiations and present in the so-called Cnn class (C non-negotiated class). Of the remaining 21 drugs approved in the EU, 13 (15%) were not available within the national territory. In agreement with Decree 279/2001, all ‘essential’ services are free to citizens affects by a rare disease, provided that this rare disease is included in the aforementioned list. A major problem is that only a percentage of the total number of rare diseases within Italy are included in the list which ensures access to benefits. The acts that updates the LEAs is anticipated soon (although the newly added diseases will not include rare cancers).

Education and training programmes in Italy are organised by various bodies, including patient organisations, such as ‘Know to Assist’ which has courses on topics such as how to identify suspected rare diseases, quality of care, and transition for paediatric age to adulthood. In Italy there is a helpline dedicated to rare disease, funded through a mixture of public and private funding the helpline is available to both patients and professionals. A few specific actions exist within Italy to enable real access for people living within rare diseases to general social/disability programmes. For instance, the “Carosello” project, run by the UNIAMO Federation, was devised as a guide to enforce rights and provide access to employment for individuals living with a rare disease.


Full 2016 Report on Rare Disease Activities in Italy

*NB – The findings and conclusions in this report are those of the contributors and validating authorities, who are responsible for the contents; the findings and conclusions do not necessarily represent the views of the European Commission or national health authorities in Europe. Therefore, no statement in this report should be construed as an official position of the European Commission or a national health authority. 

Information supplied by the Italian SOA Data Contributing Committee:

  • Competent National Authority – Paola Facchin
  • Orphanet National Representative – Bruno Dallapiccola
  • National Patient Alliance Representative – Simona Bellagambi