On average, five new diseases are described every week in the medical literature – that’s more than 250 a year. The fact that these conditions are only now being identified suggests that the majority will turn out to be rare diseases, affecting no more than 5 in 10,000 people. Many of these so-called orphan diseases will affect less than 1 in 100,000 people.
But despite the sizeable number of sufferers – more than 30 million in the EU alone – the number of orphan drugs on the market cover less than 5% of the known rare diseases, creating an enormous unmet medical need that does not look like being addressed in the foreseeable future.
However, global sales of orphan drugs are rising at an annual rate of 7% and are expected to top US$127bn in 2018; they currently represent more than 10% of the global pharma market. However, this is both a blessing and a curse.
Although the small potential patient population discourages pharma companies from devoting large sums to developing orphan drugs, the incentives put in place to persuade them to do so has led to increasing interest among Big Pharma, especially as proving the concept could open the way to other indications that will increase the size of the market for the drug.
But the high price needed to recoup the investment across a small number of patients deters those who have to meet the cost of the drugs out of increasingly restricted financial resources.
For the past seven years, the last day of February has been designated Rare Disease Day. Co-ordinated by the European Organisation for Rare Diseases, it aims to raise awareness of rare diseases, and to improve access to treatment and medical representation for individuals and their families.
Over the past year, a total of 12 medicines for the treatment of rare diseases were recommended for marketing authorisation by the Committee for Medicinal Products for Human Use. A drop in the ocean perhaps, but literally a lifeline for those patients for whom no alternative treatments exist.