Though they often gain widespread media attention, genetic diseases such as cystic fibrosis and Crohn s disease are actually considered rare. In fact, since they afflict fewer than 200,000 individuals in the U.S., they re classified as orphan diseases by the National Institutes of Health. However, at least 7,000 such rare diseases exist, and though they cumulatively affect over 30 million Americans and 250 million people worldwide, there is a paucity of approved drugs for the majority of these ailments. This is due mainly to the absence of any real financial incentive for drug companies to bring therapies to such a limited market.
However, there have been efforts to improve the situation. For instance, the 1983 Orphan Drug Act, which Congress used to ease some of the financial burden, grants priority review to orphan drugs, as well as providing companies with a 7-year period of sales exclusivity without requiring a patent. It has been only very recently, though, that the act has gained any traction. Now, Big Pharma companies, including Pfizer, GlaxoSmithKline, and Novartis, are renewing efforts to research rare diseases. And it turns out there s real profit in it. Unlike drugs for complex and common diseases, drugs for rare diseases have another advantage: such afflictions usually have a single, known cause, which can be directly targeted. Thus the drugs treating them tend to be more effective and less risky, says Ed Mascioli, head of Pfizer s new rare disease R&D unit.
ACSH s Alyssa Pelish notes that this time, the FDA got it right. She applauds the agency for creating significant regulatory incentives that encourage pharmaceutical companies to develop treatments for diseases that might otherwise still be neglected. She adds, We re beginning to see how removing some of the obstacles to rare disease research has positively affected many people s lives.