A True Healthcare Reform Idea – Priority Review Vouchers For Ultra Rare Diseases

This week I have been reading all about priority review vouchers. Henry Grabowski and other faculty at Duke University came up with the idea for providing an incentive for drugmakers to target certain tropical and infectious diseases (such as TB, malaria, cholera, dengue, leprosy) affecting poor nations.  Senators Sam Brownback (R-KS) and Sherrod Brown (D-OH) sponsored this and the idea went from a proposal to being enacted as U.S. law in 18 months!

According to the FDA, “while diseases addressed by this legislation represent an important disease burden for humanity, there has been remarkably little progress over the past 50 years in development of drugs for these diseases. Because these diseases are found primarily in poor and developing countries, existing incentives have been insufficient to encourage development of new and innovative drug therapies.”

This is similar to what is happening in the ultra rare disease category – very little progress for millions of people with chronic and life threatening diseases. And this is happening in our own country! I wonder if a similar bill with novel incentives could be implemented for ultra rare genetic diseases like Niemann Pick Type C disease where there is no significant market or financial incentive for pharmaceutical or biotech companies to invest.  Or could this bill be expanded to include Ultra Rare Diseases?

Common Rare Diseases versus Ultra Rare Diseases

When I say ultra rare diseases, I am not talking about rare diseases like Cystic Fibrosis. No offense to folks in the Cystic Fibrosis community but CF is a more common rare disease with about 30,000 patients in the US.  Over the years, there has been significant drug development for this rare disease. I am talking about unknown and obscure genetic diseases such as Niemann Pick Type C, a fatal cholesterol disorder that is often called the “childhood Alzheimer’s.”  Last I checked, there were approximately 150 living patients in US with NPC (including my six year old identical twins, Addi and Cassi).

Over the past month, I have been researching global rare disease statistics and contacting experts. I want to know one simple fact.  How many people in the United States fall into the ultra rare disease category (defined by me as 1,000 patients or less per disease type).  I pick 1,000 patients because I am fairly certain that a drug company would not pursue drug development for these small patient populations. Currently, no one can answer my question except to say, “hundreds of thousands of people” but the number could be a million or more out of the 30 million people in the US affected with over 7000 different types of rare diseases.

Rare Disease Class System Exists

Just as there are social classes, I am finding that “classes” of rare diseases exist. Despite the success of the Orphan Drug Act of 1983, Niemann Pick Type C falls into the powerless class. We are true orphans lost in a dysfunctional drug development system facing a virtually impossible and hopeless situation.

The personal hurdles I have been crossing as we move towards filing an Orphan Drug Application for Niemann Pick Type C (NPC) are tall. I must admit that the hurdles – bureaucratic red tape, research and foundation politics, lack of funding from a small patient population and zero drug development experience – at times seem insurmountable.  Between hand feeding my girls and seizure attacks, there are days when I completely break down into tears.

Stimulating Drug Development for Ultra Rare Diseases

I am looking forward to meeting Dr. Timothy Cote, Director of the FDAs Orphan Products Office, at the Orphan Drug Workshop next week at the Keck Graduate Institute. While the government’s TRND program is well intending it is time that we attempt to stimulate new drug development for ultra rare diseases in the private sector as well. I believe for any real change to happen we need novel incentives to entice companies to invest in ultra rare diseases similar to the novel incentives laid out by Grabowski and team at Duke for tropical diseases.

Ultra Rare Diseases Will Solve The Most Common Diseases

Ultra rare genetic diseases like Niemann Pick Type C disease can help scientists solve the most common diseases affecting millions of people.  Just as investment into tropical diseases can have a profound impact on global healthcare, so will the investment in ultra rare genetic diseases.

Children like Addi and Cassi can be part of the many faces behind true healthcare reform.