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