John Swann, Ph.D.
Scientific developments throughout the 20th century led to the development of many medical products and therapeutic advances for patients. But around the late 1970s it became increasingly clear that many citizens were being left out of these advances. One of the key reasons for this neglect was the small size of some patient populations. The relatively limited prevalence of a particular disease acted as a barrier for commercial investment in the research and development required to show evidence of the safety and efficacy of treatments. Ironically, by the early 1980s, these "rare diseases" affected 20-25 million patients who, together, suffered from approximately 5000 rare diseases—some of which affected as few as about a dozen individuals.
In response, organizations were established in the Department of Health and Human Services and in FDA (the Office of Orphan Products Development) to promote the development of products to treat these "orphan" diseases. At least as important was the grass roots efforts of patients and advocates affected by such rare diseases as Gaucher’s disease, Tourette’s syndrome, Huntington’s disease, severe combined immunodeficiency (SCID), and many other disorders. They formed a coalition in the early 1980s, which evolved into the National Organization for Rare Disorders (NORD), and which led in 1983, to the enactment of the Orphan Drug Act. As Abbey Meyers, the head of the organization and the mother of a Tourette’s syndrome patient, later noted, “We look back on this adventure with a great sense of accomplishment and relief. It was an opportunity for patients with rare diseases to empower themselves. I doubt if we would have [had] such an effective and cohesive group if we had not faced opposition at every turn.”
But other important influences also helped gain greater attention for the cause of rare diseases. The popular television series, "Quincy, M. E.," for instance, aired an episode in 1981 addressing the challenges facing a Tourette’s patient, and another episode the following year, about myoclonus. That focus on rare diseases was not accidental. The brother of series star Jack Klugman, Maurice Klugman, was an associate producer of the show who suffered from a rare form of cancer. After the first of those episodes aired, Jack Klugman testified before Congress about pending legislation related to the need for the development of drugs targeted for treatment of rare diseases.
That law, the Orphan Drug Act, provided financial incentives to attract industry’s interest through a seven-year period of market exclusivity for a drug approved to treat an orphan disease, even if it were not under patent, and tax credits of up to 50 percent for research and development expenses. In addition, FDA was authorized to designate drugs and biologics for orphan status (the first step to getting orphan development incentives) provide grants for clinical testing of orphan products, and offer assistance in how to frame protocols for investigations. A subsequent amendment defined a rare disease as one affecting under 200,000, though a disease with more patients could qualify if the firm could not recover the costs of developing the drug.
The 1983 Orphan Drug Act completely changed the face of therapeutics for rare disorders. By 1990 FDA had designated 370 products for orphan status, and of these 49 were approved for orphan indications. By 2002 the number of orphan designations grew to almost 1100, and approvals to 232, a number that provided treatment to an estimated 11 million patients. Much work of course remained to be done, considering how many suffered from rare disorders. But the Orphan Drug Act finally provided for many of those orphaned among blockbuster treatments a hope of their own thanks to the work of many, not the least of whom were those patients and their advocates who had long championed the needs of the forgotten patients.