The Sad Truth About the US Rare Disease Drug Approval Process

 Before I get into the meat of my blog post, I would like to start by saying that I am in no position to endorse any treatment.  I put more faith in the feedback of medical experts, patients and parents who have experience with them.  This post is really more about what I have learned about the flaws in the process of getting approval for treatment of rare diseases.  It is also about what we can do to make them better.

For my son's illness there is no approved treatment.  Parents of Sanfilippo patients, and all rare diseases,  must unite to encourage a rational therapy evaluation process.  We need an approach that allows fast track approval for medications - similar to what is available to AIDS patients.  Rare diseases pose unique challenges because of the variation in the way these diseases affect each person and the challenges with building statistically significant outcome data.


 When we were first found out that our son had elevated urinary GAG levels (a marker for MPS diseases) we assumed he had Hunter Syndrome.  Without treatment, Hunter Syndrome is - like all MPS diseases - an absolutely catastrophic disease.  When I went to the Shire website to research treatments, I saw the following quote regarding the efficicacy of Elaprase:

In a clinical study of 96 patients with Hunter syndrome, weekly treatment with ELAPRASE was shown to improve walking capacity in patients after one year of therapy.

Now, I don't know about you but I can tell you when I found out my son had a life threatening disease, the idea of him walking a little better wasn't a huge comfort.  It was only after speaking to adult patients and talking to our geneticist that I learned their opinion that Elaprase is an amazingly effective as a treatment for MPS II.  Our doctor had even used words like "miracle drug" for Elaprase.   Where the heck was the disconnect??!!!


I was told by my doctor that the FDA required an objective "endpoint" measurement to allow Elaprase to proceed through clinical trials.   For rare diseases, this data is apparently very hard to gather in a meaningful way.  

Since no treatment is approved, Sanfilippo parents are extremely anxious about what options are on the horizon.  The huge turnout by MPS III parents at the LDN World conference proved that to me.  I joked that  parents of children with other MPS diseases were home with their children getting treatment.

MPS III does have solution within the next two years.  Intrathecal enzyme replacement for MPS IIIA will go hopefully into Phase III in 2012.   Zacharon will hopefully produce a new small molecule drug that will address MPS I, II and III. 

The sad truth is applying a general purpose disease policy to rare diseases results in:

• Slowing the time to market of meaningful new drugs
• Discouraging drug companies to invest in rare diseases where approval risk is high

The good news is that this isn't something we have to take on individually.  Dr. Emil Kakkis, the doctor that was made famous by developing an enzyme replacement treatment for MPS I,  has created the Kakkis foundation to do just this.  This wonderful man has funded this foundation largely with his own money.  His message will be come even more powerful if it comes from you.  You see, congress won't necessarily trust industry experts asking for reform but they will listen to you!

Go to the web site for the "Cure the process" campaign and use their automated tools to contact your politicians.  It is super easy, just click "Take Action" and select write your congressman.  The web site will ask your zip code and help you write emails to all of your representatives.  Make sure to add a personal message about your kids, grandkids, relatives and friends.  Doing so will make the message more effective.

Dr. Kakkis is Lobbying Congress to:

1. Establish a new office in the FDA dedicated to rare diseases
2. Devise clinical study approaches specific to rare disease
3. Create a new standard for endpoints that helps rare disease have full access to the accelerated approval pathway

Here is a link to the full text for the Creating Hope Act which will be crucial to pediatric rare diseases. 

I didn't get to see Dr. Kakkis presentation at LDN World, so I watched his YouTube material.  So you don't have to search, I put them the right here for you.  Check them out, it only takes 15 minutes.  They were music to my ears!