Numbers Don’t Add Up – Only 347 New Drugs Approved By FDA For 30 Million Americans With Rare Disease in Past 25 Years?

When it comes to finding Rare Disease statistics, the same old statistics and facts keep popping up again and again. I realize data is difficult to gather on 7000 different rare diseases that afflict 30 million Americans but it’s frustrating that sports teams and Wall Street have more comprehensive statistics when millions of people across America are chronically sick or dying.

Here are some of the alarming and scary statistics on Rare Disease I have gathered (I could not help but annotate in quotes):

• An estimated 30 million people in the United States have a rare disease and countless others worldwide.  (If you run the numbers, this works out to approximately 1 in 10 people or 10% of the US population!  Given that most of these people suffer from chronic and life threatening illnesses can you say major healthcare crisis?)
• Approximately 15 million Americans have rare diseases for which there still is no approved treatment and no research in progress.   (What????????)
• In the United States, a rare disease (also called an orphan disease) is a disease or condition affecting fewer than 200,000 persons (or about 1 per 1,000)
• According to the National Institutes of Health (NIH) there are nearly 7,000 different rare diseases (yet collectively “rare” disease is not so “rare”)
• Approximately 80% of rare diseases are attributed to genetic defects.  However, rare diseases may also occur as a result of bacterial or viral infections
• In the 25 years since the Orphan Drug Act of 1983 was signed into federal law, the FDA has (only) approved 344 treatments for rare disease.  Over 2100 orphan drug applications were filed over the same 25 year period, working out to a (paltry) 16.4% approval
• Children represent the vast majority of those afflicted with rare disease. (I have found references that 50% and possibly up to 75% of those affected by rare diseases are children like mine)

When It Comes To Rare Disease A Lot Does Not Add Up

The “official” Niemann-Pick Type C statistic states that the fatal cholesterol disease strikes an estimated 1 in 150,000 people or approximately 6 people per 1 million. Yet there are only approximately 500 known cases of Niemann Pick Type C worldwide and 250 cases in the US. With 250 cases in US diagnosed, the number works out to be more in line with 1 person per million (of the people we can find who have it). How do you have a such a high degree of discrepancy in the incidence number for this rare disease?  Maybe there are some patients undiagnosed but the numbers don’t seem to add up.  It seems like when it comes to Rare Disease a lot does not add up.

Major Healthcare Reform For Rare Disease Needed

If I sound upset, it’s because I am.  Over the past 25 years, only 347 drug treatments exist for 30 million people suffering from 7000 different rare diseases.  You can search the database here.  People keep telling me how successful the Orphan Drug Act of 1983 has been. Does this seem like success to you? It’s not at all surprising that we are in a major healthcare crisis with no end in sight.

One major piece of Healthcare reform that needs to be addressed is Rare Disease and the drug development process. Pharmaceutical and biotech companies are NOT making drugs for millions of people suffering from rare diseases because the numbers do not add up. They can’t make any money off of most of the rare diseases that have small patient populations.

The government is trying to help  (workshops, TRND program) but we are in a flatline situation when it comes to getting drugs developed and approved for rare disease.  I am happy about the$24 million pumped into the TRND program but it’s not going to make a dent when it costs $800 Million for a pharmaceutical company to make one single drug for the FDA to approve.  Again, the numbers don’t add up.

With World Rare Disease Day 2010 at the end of February, it’s time to stop talking about statistics and numbers and start talking about solutions.  A lot of little things can add up to big change.