Orphan Drugs—Are They Worth It?

Nearly a year ago, I was scrolling through my news feed on Facebook (yes, one of my guilty pleasures!) and came across a very disturbing picture of a newborn with horrible blisters and open sores all over his body. With immediate heart ache, I had to know his story . . . I found out he was suffering from Epidermolysis Bullosa (EB), a rare genetic disorder that causes the skin to be so fragile that the slightest touch or friction can cause severe and painful blistering—internally and externally. My eyes filled with tears seeing this poor baby and his family. I have followed him on Facebook for nearly a year. He struggles with severe pain every day . . . constant bandage changes, infections, lengthy hospitalizations, etc. Why had I never heard of this? What is being done for this poor, helpless baby?

Thanks to Facebook, I am now AWARE. And awareness is what will ultimately spread the word and help those suffering from these horrible unmet medical needs.

EB is classified as an Orphan Disease because it affects less than 200,000 people in the U.S. It’s such a horrible disease and therefore low prevalence is a good thing! But . . . the bad thing is pharmaceutical companies are typically ‘less motivated’ to develop treatments for diseases that only affect a small number of people. The generated sales are usually minimal compared to that of a cancer that affects so many.

But what about this poor baby suffering on a daily basis? Not to mention the suffering of his parents and siblings (and the family wallet!). How can we help him?

Thankfully, Congress recognized the unmet medical needs and the lack of treatments/therapies for many rare diseases, which led to the passage of the Orphan Drug Act (ODA) in 1983. The ODA provides incentives for the development of Orphan drugs See associated Regulations here: Code of Federal Regulations, Title 21 Food and Drugs, Part 316 Orphan Drugs. Shortly thereafter came the formation of the Office of Orphan Product Development (OOPD) within the FDA to help guide the Sponsor companies inspired to navigate through the complex regulatory pathway of an Orphan drug from discovery to market. As one would hope, the passing of the ODA and its incentives has led to a major increase in the market approval of new therapies for Orphan diseases.

There is hope, much hope, for my little, precious Facebook friend!

Naturally, one would ask, “What are the incentives of developing a treatment or therapy for an Orphan Disease?” To list a few:

  • The Prescription Drug User Fee (PDUFA) is waived. And they aren’t cheap! See below for fee rates for FY 2013

Application Fee Category

Fee Rates for FY 2013

Requiring clinical data


Not requiring clinical data


Supplements requiring clinical data






  • 50% tax credit for clinical study costs
  • Eligibility to apply for the FDA Orphan grants program
  • 7 years marketing exclusivity

Those are some good incentives!

Now what? How do we do this? What are the next steps?
In order to obtain the above incentives, the Sponsor company must apply for Orphan Drug Designation with the FDA and if “approved,” the FDA will grant the Sponsor Orphan Drug Designation in writing. Specific instructions can be found here: How to apply for Orphan Drug Designation

Is it worth it? Is sure is. Take a few minutes to google Epidermolysis Bullosa and perhaps a story or two will catch your attention just like my little EB baby Facebook friend caught mine. Within minutes, I would bet my glass of wine (and anyone that knows me, that’s huge!!) that you will feel the “real” motivation towards finding treatments and cures for the many unmet medical needs. The incentives from the ODA are just icing on the cake.

Toto's Tips

  • Motivation for your company’s goals is critical . . . the path to market for an Orphan Drug has many gray areas . . . there’s no easy answer, so one must have true commitment and passion for the suffering patients whose finger is in the pill vial or arm is at the tip of the syringe.
  • Attempt to obtain Fast Track Designation With this, the FDA will be more proactive and help facilitate the development and expedite the review of drugs intended for an unmet medical need. All in hopes to get the drug to the patient faster!
  • Defining meaningful biomarkers may help in selecting a quantifiable clinical endpoint.
  • Early and consistent communication with the FDA is critical before and during the development of your Orphan drug (or any drug for that matter!).