Thursday, January 31, 2013

The FDA and Orphans

I came across a post about Rare Disease Day. I thought to myself, I’ve never heard of such a thing. Curiosity being my motivator to click the link I then landed on a website specifically for Rare Disease Day. I thought, man, we read or hear in the media about people leaving us at times because it was discovered they had some form of a rare disease. My next thought across my mind was what makes up the definition of a rare disease?

Medline Plus, a service of the U.S. National Library of Medicine explains it like this: A disease is rare if fewer than 200,000 people in the United States have it. There are close to 7,000 rare diseases and about 25 million people in the U.S. have one. Many rare diseases are caused by changes in genes and are called genetic diseases.

The FDA provides this example: Jumping Frenchmen of Maine sounds like an uproarious, modern-day stage show or even a new wave rock group. But it's neither. It's the name of an unusual disorder that causes an extreme startle reaction to unexpected noises or sights. Though little is known about Jumping Frenchmen of Maine, the disorder and more than 6,000 other rare or "orphan" diseases are receiving increasing attention from the government, patient groups, and the pharmaceutical industry.

So now I ask, “What is an orphan disease?” In doing my research I found orphan disease is another name for rare disease and new ones are discovered every year. Before Congress passed the Orphan Drug Act (ODA) in 1983, patients with these types of diseases received little to no treatment. Inadequate funding for research hospitals and universities and the lack of investment from the prescription drug industry resulted in patients having little chance of survival. Despite the urgent health need for these medicines, they came to be known as orphans because companies were not interested in adopting them. However, since 1983, the ODA has resulted in the development of more than 250 orphan drugs, which now are available to treat a potential patient population of more than 13 million Americans.

No matter what label gets attached there is still much to learn about them. For the FDA they say that most are inherited and caused by alterations or defects in genes (mutations). Others can be acquired as a result of environmental and toxic conditions.

For more information visit our Resource Board for links to find out more.