Rare Diseases and Orphan Drugs

Many Types of Pain Are Considered Rare Diseases

According to Scientific American, there are approximately 6,800 rare diseases, most of which have no approved treatment. To be considered a rare disease, it must affect fewer than 200,000 Americans. Most rare diseases have limited treatment options. Unfortunately, many types of chronic pain are considered rare diseases for which there are few effective treatments.

Complex Regional Pain Syndrome (CRPS) is an example of a rare disease. It is a severe neurologic disease that can cause intractable pain and physical disability. While it may initially affect only one particular area, such as an arm or leg, it can spread throughout the body. Symptoms vary from person to person, but the intensity of the pain that patients experience seems disproportionate to physical appearance or injury. Patients can experience continual pain for a lifetime once it develops. The National Organization for Rare Disorders (NORD) recently officially designated CRPS as a rare disease.

Rare diseases affect nearly 30 million Americans. That means 1 out of every 10 Americans suffers from a disease with which doctors may be unfamiliar and for which there are no reliable treatments.

Orphan Drugs Treat Rare Diseases

Medicines developed to treat rare diseases are called orphan drugs. The U.S. Food & Drug Administration (FDA) oversees the process through The FDA Office of Orphan Products Development (OOPD).

The Orphan Drug Designation program “provides orphan status to drugs and biologics which are defined as those intended for the safe and effective treatment, diagnosis or prevention of rare diseases/disorders that affect fewer than 200,000 people in the U.S….”

FDA Commissioner Scott Gottlieb has said, “our ultimate goal [is] to facilitate the development of safe, effective innovations that have the potential to meaningfully impact rare diseases.”

Because the diseases orphan drugs treat are rare, the approval process is different than for drugs with a larger market potential. Under the Orphan Drug Act (ODA) of January 1983, pharmaceutical companies receive incentives — such as a 50% tax credit for clinical research and testing expenses, a waiver of user fees, and 7 years of marketing exclusivity — to develop drugs for rare diseases.

Pharmaceutical companies have financially benefited from this extended exclusivity. Not surprisingly, that has resulted in controversy. For example, Mylan — maker of the EpiPen — grabbed headlines when costs for its life-saving product soared 500% over a 10-year period.

Scott Schliebner Presents Nothing About Us, Without Us

At DIA Global’s Annual Meeting 2018, Scott Schliebner, Senior Vice President of Scientific Affairs, PRA Health Sciences, will give a presentation, “Nothing About Us, Without Us: Best Practices for Engaging With the Rare Disease Patient Community.” The title suggests the importance of involving people with rare disease in drug development.

Although Pharma has benefited from investing in orphan drug development, people with rare diseases have also benefited. In the ten years before the ODA was passed, pharmaceutical companies brought only 10 drugs for rare diseases to market. Since the passage of the ODA, more than 600 orphan drugs have been approved.


Yet, FDA Commissioner Scott Gottlieb admits, “For all the success of the ODA, there’s been criticism that some sponsors are using designations as a way to sidestep other important public health goals set out by Congress. We need to make sure our policies take notice of all of these new challenges and opportunities.”

Once an orphan drug has been approved, it costs an average of $118,820 per year. At that price, if a single drug were approved under the ODA for even 10% of rare diseases, the cost would exceed $350 billion annually. Although the cost may seem warranted to a person who is suffering from a rare disease, the cost to society is not sustainable.

The estimated cost represents more than 10% of the total amount of money America spends on health care costs for the far more common diseases of diabetes or Alzheimer’s (and other forms of dementia).

The extraordinary cost of developing orphan drugs presents ethical issues for a society with limited resources. Can a society afford to develop drugs that are so expensive for a small population? Conversely, is it ethical to not develop drugs for people with rare diseases? For the millions of Americans with disabling rare diseases, orphan drugs can provide a means to live a fulfilling life.


1 From “Insights into Rare Disease Drug Approval: Trends and Recent Developments,” https://www.fda.gov/downloads/forindustry/developingproductsforrarediseasesconditions/ucm581335.pdf

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