In the weeks leading up to the conference call with PTC on May 27th all I kept hearing in my head was the chorus from a song from the musical Jesus Christ Superstar – What's the buzz?
Tell me what's a-happening?

The Duchenne community was anxiously waiting for this call. PPMD was willing to facilitate the call. PTC was willing to provide an open line of communication regarding where they were with their analysis and what their next steps were. The fact that PTC was willing to have this discussion to me was rather extraordinary. They could have said nothing at all, but they didn’t. I am extremely thankful that they didn’t. The other drug company that also has a stake in this trial has been very silent. Also, these trials were funded by other organizations. Where are those other organizations? Have they decided that Ataluren in Duchenne does not show enough benefit to push it forward? I can’t speculate on those questions, I really don’t know.

Yes, I was disappointed at what I was seeing and hearing on the call, but not because PTC didn’t have the full data analysis completed or that they couldn’t provide a solid timeline to obtain access to the drug. I understood that this analysis was really complex and that they needed more time. The hurry up and wait syndrome was something that every Duchenne family deals with. We don’t like it, but it is an unfortunate reality of waiting for therapies that may stop the progression of Duchenne. I also understood that without obtaining a regulatory path forward, Ataluren availability would not be sustainable for the 179 patients that were trial subjects.

As I listened to this call and looked at the slides they were presenting, I was surprised that the dose my son was being giving had the same effect as giving him placebo. There was almost no benefit in the dose he was given during the trial. The next surprising thing to me was the slide that the dose of Ataluren that did show benefit also showed functional decline. Functional decline did occur, but at a slower rate. The rate of decline was similar to that of patients taking steroids. The low dose did show statistical benefit. But Ataluren was not the total cure that everyone wished, for the boys that have a stop codon mutation. However, the Drug did appear to be a viable treatment.

At dinner that night my son asked me about the information I heard in this conference call. We discussed the information. His response surprised me as well. “Mom, I don’t think there will ever be a “cure” for duchenne. The Dystrophin gene is too big, you will never be able to stop spontaneous mutations that occur in nature.” “What I would like is a viable treatment!” “I would like to be able to maintain my existing function.” “Can the viable treatments be combined to stop the functional decline?” Is there any way I can get back on the drug at the dose that shows benefit? I said “I don’t know, let me see what I can find out”.

As I said in earlier posts, Jon has been more than willing to try any therapy if he thinks it’s going to help. My family over the years has been on the cutting edge of treatment. We started taking deflazacort when the Duchenne doctors couldn't agree on the benefits of steroids or the dosage. Deflazacort was not proven at the time, and the Doctors in Rochester didn’t agree with my approach at all. After 11 years of monitoring Jon , they have started to come around. We started with the cardiac care early, the first time I heard Dr. Hoey from Australia present his cardiac findings in mice. We started other supplements as well as soon as we heard that they could provide benefit without harm. We took the same approach in enrolling in the Ataluren trial.

Over the weekend I saw Pat Furlong’s post regarding her thoughts on the call and gathered more information regarding the IND access process. IND stands for investigational new drug. The FDA has a program that allows physicians to apply to continue to give the drug to patients. PTC wanted the access program sponsors to be the clinical trial site doctors because PTC is building the case for the FDA and does not want to risk safety data to Doctors who have never done a clinical trial or have no knowledge about DMD and/or Ataluren. For us that meant going back to the University of Utah where Jon was enrolled. I brought the information back to my family. Jon and my husband looked at me and said “OK if going to Utah is what we need to do, let’s go for it!” “What’s more trips to Utah?” “We got that travel plan down to science.”

Go for it I did. I contacted the doctor at the University of Utah and asked if she would be willing to be the sponsor when access was approved by the FDA. She agreed! So now we are anxiously waiting for the data package to be put together and approved by the FDA. There were articles published in the Proceedings of the National Academy of Sciences that suggested that Ataluren didn’t work. PTC in building the case for Ataluren to the FDA will need to re-perform the animal tests. In my mind this is a good thing. Because if you can re-create the test and come up with the same answer than the data is solid.

My family is hurry up and waiting, just like all the other Ataluren families waiting for access approval and regulatory path forward...

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Comment by cheryl cliff on June 9, 2010 at 5:23pm
Thanks so much Christine for sharing this. We all learn from each other and with the IND process unfolding for you please let us know how things are coming along. I will keep fingers crossed for Jon and all of you to win this part of our fight. Each family has to do what they can to make their son's lives better, and perhaps pave a smoother path for the others who will no doubt find themselves standing in your shoes.
Sending prayers & good karma.
Comment by Melanie Sunny on June 9, 2010 at 3:45pm
Dear Christine, Thank you for sharing this. I do understand what you're feeling for our boys.I believe that PTC has been working very hard to see that this drug gets approved so that it can ve avilable to our sons and all the other boys who might benefit from it. -Melanie

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