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Rare Diseases

What are Rare Diseases?

A disease is considered rare when it affects no more than 5 individuals among 10,000 persons. However, the low prevalence of this pathologies does not mean that there is a small number of patients affected by a rare disease. Only in Italy there are thousands of individuals affected by rare diseases and in Europe there are tens of thousands. The number of known and diagnosed rare diseases ranges from 7,000 to 8,000. Considering rare diseases as a whole, and not singularly, helps highlighting and recognizing a series of healthcare problems and planning focused public health actions involving groups of population with common needs, safeguarding at the same time their peculiarities and differences.

The topic of rare diseases implies necessarily talking about orphan drugs. These pharmaceutical products, due to the fragmentation of the single pathologies, often fail to arouse the economic interest of the pharmaceutical companies.

In the same year, in the United States, the National Organization of Rare Disorders (NORD), that brings together all the volunteer bodies engaged in supporting patients with rare diseases, began its activity. In April 1999, Europe, with the Parliament and European Council Decision n. 1295/1999/CE, adopted a Community Action Programme on rare diseases, within the frame of the 1999-2003 Public Health Action. Moreover, Europe in 2000 published the Regulation n.141/2000 on orphan drugs and established the community procedure for orphan drug designation. The Committee for Orphan Medicinal Products (COMP) has been created within the European Medicines Agency (EMEA) to carry out this activity.

In Italy, the 1998-2000 National Health Plan " PSN (Piano Sanitario Nazionale) listed, among the priorities, the “safeguard of subject affected by rare diseases” and among the primary actions the creation of a national network of rare diseases. Both requests have been accomplished in a short time: in May 2001 the Ministry Decree 279/2001 “Regulation of the institution of the national network of rare diseases and exemption from contribution to healthcare expenses, as stated in the art. 5, paragraph 1, letter b), of the legislative decree April 29, 1998, n. 124”, published in the Gazzetta Ufficiale n. 160, 07-12-2007 " Suppl. Ordinario n. 180/L.

This decree includes the 1998-2000 National Health Plan (PSN-Piano Sanitario Nazionale) indications (reasserted in the following 2003-2005 PSN). The 1998-2000 PSN indicated the solution to rare diseases related issues in the creation of a national network formed by Presidia specifically identified by the Regions for prevention, surveillance, diagnosis and therapy.

In 2001 the Regions began identifying Presidia to assist patients affected by rare diseases and nowadays regional networks exist throughout almost the whole national territory.

In July 2002, within the State-Region conference, a permanent interregional technical group has been created, with the participation of the Health Ministry and the ISS. The purpose of this group is to improve the activity of the national networks and to safeguard the equity principle of assistance for all citizens.

On May 10, 2007 an agreement between Government, Regions and autonomous provinces of Trento and Bolzano has been signed. The agreement was related to the acknowledgment of Regional and/or Interregional Coordination Centres, of superregional Presidia for low prevalence pathologies and to the activation of regional and interregional registers of rare diseases.


Published 19-03-2008 in Rare Diseases , last update 22-05-2008


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