Rare diseases and uncommon profits

A “rare disease” is – by definition – something that only affects a small number of people. We can even put a specific number on this: the US considers a rare disease to be one that afflicts less than 200,000 and the EU uses a similar benchmark of 250,000. However, while each rare disease is uncommon, there are a relatively large number of different diseases that qualify – around 7,000. That means an estimated 25 million to 30 million Americans have a rare disease – although many will be undiagnosed because most doctors may never have seen patients having one of the rarer diseases.

However, diagnosis is only the first part of the problem when it comes to tackling some of these conditions. Providing effective treatments can be an even larger hurdle, because they are not an obviously attractive opportunity for pharmaceutical companies. First, small patient numbers make it difficult to mount sensibly sized clinical trials. Second, if a drug succeeds and is approved, it may have only a small market because of the small number of patients suffering from that disease. Given that companies must often spend a lot of money developing and testing drugs, it may be impossible to make a profit