2023 marks the 40th anniversary of the Orphan Drug Act, which has been critical to stimulating a robust pipeline of rare disease therapies and drugs.
Prior to 1983, rare disease patients faced diseases with very few options for treatment. At that time, incentives for traditional larger-population medicines could not meet the need of generating a robust pipeline for smaller-patient populations. With limited numbers of patients that a particular therapy may serve, the cost to research and develop these drugs was simply out of reach.
In response to the marketplace needs, the Department of Health and Human Services and the FDA (the Office of Orphan Products Development) began organizing with outside stakeholders to promote the development of products to treat these “orphan” diseases.
Patient advocates paved the way
Patient advocates affected by such rare diseases as Gaucher’s disease, Tourette’s syndrome, Huntington’s disease, severe combined immunodeficiency (SCID), and many other disorders got involved in the effort. These pioneer rare disease advocates formed a coalition in the early 1980s. This coalition evolved into the National Organization for Rare Disorders (NORD), which formed in 1983 and championed advocacy efforts that led 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.”
Incentives for rare disease therapies
The Orphan Drug Act’s primary components allow for a seven-year marketing exclusivity to sponsors of approved orphan drugs/products, a 50% tax credit for the cost of conducting human clinical testing, research grants for clinical testing of new drugs and therapies to treat rare diseases, and ensures that exclusive marketing rights limit competition by preventing other companies from marketing identical versions of the drug.
Over the years, there has been pressure to scale back the Orphan Drug Act, whether cutting back on the exclusivity or scaling down the tax credits. In addition, products that reach the market face challenges ranging from public and commercial payer efforts to limit access, government policies that skew costs and incentives, and limited tools to identify rare diseases such as the newborn screening program administered by the states.
The road ahead
With all the success generated by the ODA, unmet need is great. Of the over 7,000 rare diseases currently identified, approximately 700 have a drug approved for treatment. The ODA has provided hope to the 1 in 10 Americans and their families who have a rare disease. These patients and their families are our neighbors, our friends, our school teachers, neighborhood coaches, and mentors.
Yet, most rare disease patients do not have therapies to treat their conditions. Revolutions in cell and gene therapy could provide many rare patients with genetic diseases with targeted therapies that could be cures. In addition, small- and large-molecule research has developed a robust pipeline that the next generation of rare patients will benefit from.
While we celebrate the passage of the landmark Orphan Drug Act, there is still much to be done. Not just to keep the rare disease pipelines providing hope to patients, but to actually meet the promise of the Orphan Drug act by making sure that rare therapies are available to patients when they need them.