Cell and Gene Therapy

Rare Diseases & Orphan drugs

Rare diseases are life-threatening or chronically debilitating conditions, affecting no more than 5 in 10,000 persons in the European Community according to the Regulation (EC) N. 141/2000 of the European Parliament and of the Council. 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 taken at international, European and national level to tackle public health as well as research issues related to diagnosis, prevention, treatment and surveillance of these diseases. An Orphan drug can be defined as the one that is used to treat an orphan disease. An orphan disease in USA is defined as the one that affects fewer than 200000 individuals, but in Japan the number is 50,000 and in Australia is 2000. In past 20 years efforts have been made to encourage companies to develop orphan drugs. The Orphan Drug Act in the USA (1983) was succeeded by similar legislation in Japan (1985), Australia (1997), and the European Community (2000). The encouragement takes three forms: tax credits and research aids, simplification of marketing authorization procedures, and extended market exclusively.