Rare diseases

Rare diseases are a large group of disorders (5-6 thousand), as defined by the low prevalence in the population. At the European level, a rare disease is a disease that affects up to 5 patients in 10,000 inhabitants.
The attempt to gather more morbid forms, very different in terms of clinical and eziopathogenetics, within a single container called "rare diseases" is linked to the common welfare issues and to the assumption of a lower cost-benefits ratio resulting from an approach to public health strategies that involve rare diseases as a group rather than individually.
These strategies have their origin in the U.S.A., which in 1983 adopted a regulation on orphan drugs (Orphan Drugs Act) to promote the development and marketing of these products. Also in the U.S.A. in the same year started the activities of the National Organization for Rare Disorders, which brings together all the volunteer organizations involved in supporting people affected by rare diseases.
In Europe, in April 1999 with the Decision No 1295/1999/EC of the European Parliament and Council, it adopted a Community Action Program on rare diseases within the framework of the Public Health for the period 1999-2003.
At European level, in 2000 the Regulation No 141/2000 of the European Parliament and the Council on orphan drugs is published, with the establishment of the Community procedure for designation of orphan drug. To carry out this activity is established within the European Medicines Agency (EMEA), the Committee for Orphan Medicinal Products (COMP).
In Italy, the National Health Plan (PSN) 1998-2000 indicated one of the priority the protection of people suffering from rare diseases and the creation of a national network for rare diseases.
In May 2001 was issued Ministerial Decree 279/2001 "Regulation of the establishment of the national network of rare diseases and exemption from participation in the cost of health benefits, according to Article 5, paragraph 1, letter b) of Decree Legislative April 29 1998, No 124 ", published in the Official Gazette No. 12-7-2001. The Regulation collects the signs of the PSN 1998-2000, also reiterated in the next PSN 2003-2005, which showed, as the institutional response to rare diseases, the establishment of a national network for the prevention, monitoring , diagnosis and therapy.

National Network for Rare Diseases

For the surveillance activities of the network, in order to guide the national and regional programming, is established (Art. 3 DM279/2001) the National Register of Rare Diseases at the Istituto Superiore di Sanità.
Starting in 2001, the regions have begun to identify the centers for the care of patients suffering from rare diseases and currently the regional networks are shown on almost all the national territory.
Since July 2002 was established under the State-Regions Conference a permanent inter-group, involving the Ministry of Health and the ISS, whose goal is the optimization of the operation of regional networks and the safeguard of the principle of fairness for all citizens.

(source: Azzurra website)