摘要：According to the Regulation (EC) N. 141/2000 of the European Parliament and of the
Council, rare diseases are life-threatening or chronically debilitating conditions, affecting no more
than 5 in 10 000 persons in the European Community. It is estimated that between 6000 to 8000
distinct rare diseases affect up to 6% of the total EU population. Therefore, these conditions can be
considered rare if taken individually but they affect a significant proportion of the European population
when considered as a single group. Several initiatives have been undertaken at international,
European and national level to tackle public health as well as research issues related to the prevention,
diagnosis, treatment and surveillance of these diseases. The development of innovative and effective
medical products for their diagnosis and treatment is frequently hampered by several factors,
including the limited knowledge of their natural history, the difficulties in setting up clinical studies
due to the limited numbers of patients affected by a specific disease, the weak interest of sponsors
due to the restricted market opportunities. Therefore, incentives and other facilitations have been
adopted in many parts of the world, including in the EU, in order to facilitate the development and
commercialization of diagnostic tools and treatments devoted to rare diseases. This paper illustrates
mainly the European initiatives and will discuss the problematic and controversial aspects surrounding
orphan drugs. Finally, activities and measures adopted in Italy are presented.
关键词：Key words: rare diseases, orphan drugs, incentives, small population.
