Right now drugs for rare disorders are the sweet spot of the biotechnology industry. Treatments for illnesses that affect only hundreds of patients can cost $200,000 or more and have built Genzyme into one of biotech’s biggest companies and Alexion and Biomarin into two of its hottest names for investors. Shire has moved into the field in a big way, and Novartis and Pfizer look likely to follow.
But most of these disorder go untreated.
In a speech at the annual meeting of the American Society of Human Genetics on November 6, Francis Collins, the director of the National Institutes of Health and the man who headed the Human Genome Project, implored his colleagues in genetics to work to develop new treatments for rare diseases. His point was that the NIH and the Food and Drug Administration are increasingly able to handle preclinical and early clinical drug development, and that with these first steps taken medicines are more likely to be brought to market by large pharmaceutical companies.
Kicking drugs far enough along that they become appealing to drug giants is a great strategy. It has worked phenomenally for organizations like the Cystic Fibrosis Foundation and the Multiple Myeloma Research Foundation. It’s why Gilead sells a cystric fibrosis treatment and Vertex is working on one. This is a smart approach for academic researchers to take if they want to develop drugs. Contrary to popular belief, academia and government don’t invent many drugs. A recent scientific paper estimated taht 76% of drugs are invented by large drug firms. The other 24% start in academia and end up at drug companies.
In arguing for the great need for these treatments, Collins said 7,000 diseases affect people, but that only a small fraction support the commercial development of drugs. More than 6,000 of these disorders are rare diseases, most of them caused by a single gene, and fewer than 200 have a drug treatment available. Cumulatively, these orphan disease afflcit 25 million to 30 million people. That’s a pressing need — and a huge market.
If effective treatments for those 30 million people cost $200,000 a year, the bill for treating all of them would be $6 trillion. But not all orphan diseases claimthe $200,000-plus price tag; some drugs for more common orphan disorders like pulmonary arterial hypertension cost $50,000 a year. But if we assume a comparatively cheap average price of $33,000 annually for a new orphan disease drug, treating every patient with an orphan disease for a year would cost $1 trillion. That’s bigger than the entire global pharmaceutical market, which IMS Health projects will hit $880 billion next year.
Of course, many patients with rare diseases actually receive their medicines for free if insurers or governments cannot pay for them. And, more importantly, we’re nowhere near having 6,000 treatments for 6,000 orphan diseases. If we doubled or tripled the number of rare disease drugs over the next decade it would represent a stunning spate of innovation and still leave us with only hundreds of medications.
But this is a real reminder of how big a market has to be to get companies to develop a new treatment, and that’s a fundamental fact – and challenge – when it comes to curing any disease. People tend to think of the profits that pharmaceutical companies make as payment for the research they do. But it’s more like the jackpot in a lottery — a very big prize most drug developers will never get. (Collins also noted that only 5% of drugs that start development make it to market.) If the pot isn’t sufficiently big, the money gets invested somewhere else.