Nearly 30 million people in the United States suffer from conditions classified as “rare diseases” – defined by the Food and Drug Administration (FDA) as conditions affecting fewer than 200,000 people.

While some bear names you’ve likely never heard of, other examples may surprise you. Huntington’s disease, Tourette’s syndrome and muscular dystrophy are all classified as rare diseases. In all, more than 7,000 medical disorders are considered rare.

For decades, Americans diagnosed with rare diseases had little hope. Drugs used to treat such conditions – known as “orphan drugs” – often never made it out of the lab as prioritization was put on drugs that would help conditions affecting millions. Then, in 1983, Congress passed the Orphan Drug Act in order to stimulate the development of new treatments for rare diseases. The move worked; since 1983 more than 350 new drugs have been developed.

Working alongside the Food and Drug Administration (FDA), the University of Minnesota’s Center for Orphan Drug Research is investing new resources into the development of orphan drugs and drug delivery systems that could impact the lives of millions of people both in Minnesota and across the United States.

Since its inception in 2005, the Center for Orphan Drug Research has been improving the care of individuals suffering from rare diseases through research, increased education efforts, and by taking an active role in shaping public policy applicable to rare diseases and orphan drug development. According to the Center’s director, Dr. James Cloyd, the need for orphan drug research and development only continues to grow.

“As scientists learn more about the human body, we are likely to discover more rare conditions that need treatments,” said Cloyd. “Many such discoveries are taking place right here on the University of Minnesota campus, helping fuel new partnerships and pushing new discoveries within our Biomedical Discovery District.”

In fact, the College of Pharmacy, which houses the Center for Orphan Drug Research, continuously leverages partnerships with local pharmaceutical and biotechnology companies with the goal of advancing orphan drug development.

“One of our goals is to conduct research that will help publicize the benefits of orphan drugs and, ultimately, change public policy to include new incentives for orphan drug development,” said Cloyd.

Why Cures Have Been Hard to Come By

Incentivizing orphan drug development has been vital in spurring change within the pharmaceutical landscape. In 1983, Congress enacted the Orphan Drug Act with the hopes of accelerating the commercialization of therapies and drugs to treat orphan diseases. The program offers a number of incentives including a 50 percent tax credit on clinical testing expenses and a seven-year period to exclusively sell the drug.

Similar to the reluctance of an automotive company in designing a car that would appeal to only a small fraction of the driving population, prior to the Orphan Drug Act, many pharmaceutical companies hesitated to invest in the development of drugs that would treat conditions affecting only a small number of individuals.

In addition, limited patient populations suffering from rare diseases made conducting research and clinical trials nearly impossible. Even if a new drug was developed, tested, and deemed a success, affordability concerns have historically derailed many potential treatments as companies feared having to charge unreasonable rates to cover their development costs.

However, since 1983, more than 350 orphan drugs have come to market. Many patients suffering from rare diseases have gained access to therapeutic products that would otherwise have been unavailable. Additionally, the Orphan Drug Act has helped drug developers overcome research challenges by funding clinical trials, providing FDA guidance in proto¬col design, and expe¬diting FDA approval processes.

U of M’s Center for Orphan Drug Research on the National Stage

In August 2010, the College of Pharmacy’s Orphan Drug Research Center and the FDA co-hosted a workshop aimed at helping academic researchers, patient advocacy organizations, and drug companies submit applications to gain “orphan drug” status for their products. The workshop was designed to make the process of orphan drug development transparent and accelerate preparation and submission of orphan drug designation application..

Of the 35 teams in attendance, at least half submitted an application at the conclusion of the the two-day conference, with more expected over the next month. The FDA reports that approximately 60-70% of the orphan drug applications submitted will result in the granting of orphan status. This means that the Orphan Drug Research Center’s August conference will likely secure orphan-drug status for at least 20 new drugs and therapies.

-- Kelly O’Connor