The United States Food and Drug Administration (FDA) defines a rare disease or orphan disease as a disease or state that affects less than 200,000 patients in the US, or that affects no more than five in 10,000 of the general population in the European Union (EU)(1). It is estimated that there over 6,000 different rare diseases identified to date, with around 3/4th of these genetic in origin (1). With genetic as a major etiological factor, rare diseases disproportionately affect children, with 30% of the children with rare diseases unable to survive beyond five years of age (2).
There is no doubt that the development and commercialization of rare diseases is an incredibly difficult area for any company. The challenges are numerous and cover many areas, as broad as economics and disease awareness. And as a result, pharmaceutical companies have traditionally been hesitant to foray into this space. To overcome these challenges, the FDA and other regulatory bodies – legislated the Orphan Drug Act in 1983 to provide the much-needed impetus for the development and commercialization of rare diseases.
Continued advocacy by the FDA and patient groups has created a much-needed drive for rare disease drug development. Since 1983, the FDA has approved drugs and biologics for 800+ rare disease indications (3). The growth of rare disease research is further attested by the fact that in 2019 the Center for Drug Evaluation and Research (CDER) approved 44% of pure orphan products (i.e., 21 out of 48 novel drug approvals were pure orphan products) (3).