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Permalink Reply by Michael on March 7, 2010 at 9:01pm

OK, this is yet another blip since we've been aware of this drugs development in 2002. At 16 and a half our son is likely one of the oldest ambulatory Duchenne kids in the trial. Our son has had 4 biopsies within these earlier and later trials for PTC-124 and now we are pretty close to real success; As we would define it: making dystrophin and halting or significantly slowing thee disease. We are not giving up on this yet, but my family is disappointed at being so very close and then calling for a STOP; Our son cannot make new "good" muscle, but he has been doing so well on this stuff;

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Permalink Reply by Bernardo A. Iriberri on March 8, 2010 at 9:08am

Hi Michael. I strongly agree with you and hope that these guys will not just close shop and leave everybody empty handed. We first heard of PTC124 in 2003. My son is now 19 years old. We live in Argentina so there was no chance he could enroll in the trials, but he sure has a stop codon mutation, which we had confirmed by two US labs (City of Hope and the University of Utah), just in case the trials were expanded to this part of the world. My son stopped walkiing at age 16 (most likely due to the steroids he's been taking since he was 8) and I wasn't really looking for a miracle cure, but certainly I think that our sons and we as families are entitled to see that a beneficial drug is produced and marketed. By beneficial I understand, as you say, a drug that (for what I gather from thousands of miles away) has succeeded in producing dystrophin where there was no dystrophin, and by doing that has also succeeded in at lest stopping or greatly reducing the relentless destruction of muscle fibers. I cannot believe that they are quitting on this because the kids did not show greater walking speed.

By the way: What happened to the summary of Friday's call, which was supposed to be posted during the weekend?

Best regards

Bernardo
Michael said:

OK, this is yet another blip since we've been aware of this drugs development in 2002. At 16 and a half our son is likely one of the oldest ambulatory Duchenne kids in the trial. Our son has had 4 biopsies within these earlier and later trials for PTC-124 and now we are pretty close to real success; As we would define it: making dystrophin and halting or significantly slowing thee disease. We are not giving up on this yet, but my family is disappointed at being so very close and then calling for a STOP; Our son cannot make new "good" muscle, but he has been doing so well on this stuff;

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StaffPermalink Reply by PPMD on March 8, 2010 at 2:11pm

In response to the press release that went out on March 3, 2010 from PTC Therapeutics regarding the ataluren trials, an open conference call was held on 3/5 for parents to have their questions answered by PTC. Click here to read notes compiled from this important open conference call.

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Permalink Reply by ferre on March 8, 2010 at 3:58pm

HI

I just read the summarize of the conference call

did i dream or i read that may be we will not have the result of the biopsy

i would like to know if it is legal, ethic

according to the parent's consent form that we sign at the beginning of the trial i think they HAVE TO give us this information
can someone of PPMD answer this question

thank you very much

françoise

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Permalink Reply by Sharon Hesterlee on March 9, 2010 at 12:56pm

Françoise--we will pass along this question to the company. I'm interested in knowing the answer as well.
Sharon

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Permalink Reply by Tamara Walters on March 9, 2010 at 5:44pm

I was on the call and feel very good about PTC. They seemed committed to continue this process. Keep in mind they have a decade's worth of time and resources into this and don't want to see it fail either.

And please don't feel it was for nothing ! (My son has two scars and 18 months of blood draws to show for it !) We have to believe that something can be learned from this. This type of research is so new, that it will take some trial and error!

Try not to be discouraged ! The fight continues !

Tamara Walters, St. Louis

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Permalink Reply by Matt O'Harver on March 9, 2010 at 6:08pm

Tamara, my comment that is was for nothing was a personal one. The boys who just started on the trial, some just had their biopsies and never made it to the three week visit for one blood draw. No matter the outcome we will not know what it would have, could have done for our boys.IMHO the decision to stop this trial was not done overnight, they had to have seen this coming, the results didn't appear overnight, just as they said it takes months to compile this data. So if they knew months ago things weren't going to come close to what they needed, why even start the new Non ambulatory and put our boys through what they did? Our boys go through enough already. Had I known we were going to be on the medication 4 weeks and essentially get no good data, there is no way I would have put my son through this. That is what upsets me the most. They had to have an idea things weren't going where they needed to be, yet they added the new trial of 30 boys.

Tamara Walters said:

I was on the call and feel very good about PTC. They seemed committed to continue this process. Keep in mind they have a decade's worth of time and resources into this and don't want to see it fail either.

And please don't feel it was for nothing ! (My son has two scars and 18 months of blood draws to show for it !) We have to believe that something can be learned from this. This type of research is so new, that it will take some trial and error!

Try not to be discouraged ! The fight continues !

Tamara Walters, St. Louis

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Permalink Reply by Sharon Hesterlee on March 9, 2010 at 6:28pm

Matt, unfortunately they really didn't know--this caught the PTC staff totally off guard. The trial data was blinded--only the Data Safety Monitoring Board (DSMB) knew who was on what drug and they weren't allowed to tell anyone. When the results were unblinded last week it was probably a relatively quick analysis to see that primary and secondary endpoints weren't met...what will take weeks is all the subgroup analyses and the biopsy results.

PTC did have access to "interim" data at the the half way point of the study that looked pretty good. I think everybody thought that as the boys stayed on the drug longer, the results would look even better. As we all know now, that wasn't the case. The statistics that drive all this decision making are so counter-intuitive that it's really hard to convince yourself to believe the numbers and not what you want to see in the data. As humans we've been programmed to look for patterns in things--it's probably a skill that served our caveman ancestors well as they tried to make sense of the world. The problem is that we see patterns all the time when they aren't really there because we haven't looked long enough or looked at enough numbers.

It's absolutely horrible to not even get anyresults back, negative or positive--I can see that there's no closure for all of the families in that position who were just starting the trial. I think we are all hoping that the subgroup analyses might identify a dose that is more promising or a group of boys who might be more likely to benefit based on the type of stop, or their age or whatever.

Sharon

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Permalink Reply by Char Burke on March 11, 2010 at 1:03am

Sharon - I, too, was just bummed beyond words when I heard this. I do understand. But, there is utrophin and exon skipping both that are in clinical trial stages...There is also mini dystrophin with micro dystrophin, small moleculars like calpain, myostatin,etc. There are alot of trials for viagra and ibederone. So, your son has a stop condon....isn't that lighter on the spectrum of DMD? I hope you can find some hope again. One of the DMD moms - Char Burke with a 7/12 yr old with a duplication of 54-57

Sharyn Thompson said:

My son would have benefitted from the drug but was too young to take part in the trial. Apparently they have been told in AUstralia to cease the trial immediately as well. My heart is broken. Again. I had a horrible feeling this was going to happen, but kept hoping it was simply me being a pessimist. I have been hoping for this drug ever since I heard about it 3 years ago. Now I am back to no hope as he is almost 6 and realistic treatments are still years away as they have to go through so many years of trials. I am so sad.

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Permalink Reply by Marks33 on March 12, 2010 at 6:59pm

Hey Char,

Can you provide any more information on mini/micro dystrophin? I know about Idenebone but what trials are running involving viagra?

thanks
Mark

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