Thomas Maeder, our May 2010 Man of the Month, is the author or co-author of twelve books and numerous articles in national publications, and has long experience in the biomedical field as a writer, educator, and consultant. Below, he shares his thoughts on rare disorders and their place in the drug market.
Orphan Diseases – Bellwether of Health Care
“The only people interested in rare diseases are those who have them, and that’s not a lot,” an editor once told me when rejecting my proposal for a book on orphan diseases.
In reality, nearly thirty million Americans – one in ten – suffer from some 7,000 rare diseases, making them collectively very common indeed. Though they differ wildly in their causes and manifestations, they share many characteristics in terms of the uncertainty, isolation, and costs imposed upon sufferers and their families, the challenges they pose for our health care system and sense of social responsibility, and their potential value to medical research.
In the United States, orphan diseases were defined by the Orphan Drug Act of 1983 as those that affect fewer than 200,000 people domestically. This landmark legislation offered incentives – tax credits, a period of market exclusivity independent of patent protection, research grants – for manufacturers to develop clinically valuable treatments that would not be economically viable in the normal pharmaceutical market. Previously there had been tragic instances of known, potentially useful therapeutics never taken to market, or others of already proven effectiveness that were withdrawn, because they did not meet a drug company’s threshold of profitability. The definition encompasses some familiar disorders, such as cystic fibrosis, muscular dystrophy, hemophilia, Huntingdon’s Disease, and Crohn’s disease, along with thousands of much rarer conditions, including fibrodysplasia ossificans progressive (FOP), Jumping Frenchmen of Maine, and Sakati Syndrome, or acrocephalopolysyndactyly type III, which for many years was represented by a single patient in Saudi Arabia.
In less than thirty years since passage of the Act, more than 300 orphan drugs have been approved for market. Some are produced by large pharmaceutical companies. The biotechnology industry also benefited tremendously from the orphan drug market and its incentives. In addition, as one pharmaceutical executive told me, big drug companies may need billion dollar drugs to support not only R&D but also massive corporate infrastructures and the sales and marketing machinery, but a small company aiming at a well-defined population, with a small number of specialized physicians and facilities, patient advocacy organizations, and unusually motivated patients, can get by quite nicely on mere tens of millions of dollars in revenues.