Rare Disease Day is observed every year on the last day of February to raise awareness for quality health care, equitable social opportunities and access to diagnosis for the 300 million people living with rare diseases worldwide.
For Rare Disease Day 2026, James Cloyd, director of the Center for Orphan Drug Research and a professor in the University of Minnesota College of Pharmacy, discusses rare diseases and the work he and the University do to advance our understanding of these conditions.
Q: What qualifies as a rare disease?
Cloyd: A rare disease is a disorder affecting a very small number of people. For example, in the United States, a rare disease is defined by the 1983 Orphan Drug Act as affecting 200,000 or fewer individuals, which is a fixed number. In Europe, a rare disease is defined as a ratio if it affects fewer than one in 2,000 people (or less than five per 10,000). The difference in definition means that as the U.S. population grows, the medical conditions that qualify as rare will involve an ever-smaller percentage of the population.
Q: What makes rare diseases difficult to treat?
Cloyd: Rare diseases are difficult to treat for multiple reasons. For many diseases, the underlying biology of the diseases is poorly understood, if at all. In addition, because these diseases are uncommon, most clinicians have little or no experience in diagnosis of them. As a result, it often takes years to diagnose the condition, if ever. Even if the condition is diagnosed, there may be relatively few treatments, most of which are not cures, but rather chronic therapies that correct the underlying problem or treat symptoms.
Q: What is an “orphan drug,” and how does it relate to rare diseases?
Cloyd: An orphan drug is a medication that is used to treat a rare disease. More recently, the term “orphan product” has been used instead because cell and gene therapies, which are technically not drugs, are now being approved for treatment of rare diseases. In the United States, the Orphan Drug Act authorizes the FDA to designate a therapy as an orphan product if it meets two key requirements: 1) the condition for which the therapy is intended must affect 200,000 or fewer individuals, and 2) there is some evidence that the therapy will actually treat the disease. As a means of creating incentives for the development of orphan products, developers can receive certain benefits including tax credits for qualified clinical trials, exemption from FDA user fees and seven years of market exclusivity after approval even if patents on the product have expired.
It’s important to note that designation as an orphan product is not the same as FDA approval. The developer must still undertake all the preclinical and clinical studies needed to ensure that the product is safe and to demonstrate that it is effective. Once the studies are completed, the developer can submit a new drug application to the FDA, which will review the information. If the FDA finds that the application meets the criteria for safety and efficacy, it will then approve the product, thus allowing the developer to market it.
Q: Why is raising awareness about rare diseases important?
Cloyd: Increasing awareness of rare diseases is important because it benefits virtually all aspects of the issues related to such conditions. Clinicians are more likely to think about rare disease diagnoses, academic researchers are more inclined to study the rare diseases, companies become more interested in developing new therapies and patients and families will have a name for the health condition affecting a loved one and the incentive to create patient advocacy groups to promote research and offer support.
Q: How is your work with the Center for Orphan Drug Research advancing understanding of rare diseases?
Cloyd: The focus of the Center is the development of new therapies for rare neurological conditions. Working with academic colleagues and clinicians, we approach the development of new therapies in one of two ways: 1) we identify a rare condition and then look to see if there is evidence to suggest that a drug already on the market might be beneficial in treatment, or 2) if a compound in development has pharmacological properties that might indicate that it can treat a rare disease, we will initiate laboratory studies to determine if it could treat that condition.
Another aspect of our research is investigating if a measurable biological substance in patients is associated with a rare diseases. Such substances are known as biomarkers. Biomarkers are especially valuable when testing a new therapy for a rare disease where improvement in a patient’s medical condition occurs very slowly. Identification and validation of biomarkers can allow researchers to more quickly evaluate if a new therapy is likely to be beneficial and, if yes, justifies condition of product development.
James Cloyd III, PharmD, is the director of the Center for Orphan Drug Research and a professor in the Department of Experimental and Clinical Pharmacology in the University of Minnesota College of Pharmacy. His research focuses on the clinical pharmacology of antiseizure medications and development of orphan drugs for rare neurological disorders. He is a member of the NIH NeuroNext Data Safety and Monitoring Board and the FDA Advisory Committee on Pharmaceutical Science and Clinical Pharmacology.
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About the College of Pharmacy
Founded in 1892, the University of Minnesota College of Pharmacy is the only pharmacy school in Minnesota, with campuses in the Twin Cities and in Duluth. In 2022, the University’s medical laboratory science and occupational therapy programs were integrated into the college. The medical laboratory science program is the only accredited four-year baccalaureate degree program in a public institution in the State of Minnesota, with students on the Twin Cities campus. The occupational therapy program is the only public doctoral-level program in Minnesota and one of the oldest OT programs in the United States, with campuses in the Twin Cities and Rochester. Collectively, these programs advance the college’s mission to advance health through innovative research, evidence-based education, transformative practice initiatives and community engagement. Learn more at pharmacy.umn.edu.
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