Wednesday, March 10, 2010

Trouble in paradise

We were talking about what to do for Seth's birthday and he mentioned inviting Isabella. I said we could try, maybe if we see her at church. He thought about it a minute and said, "well...she did say I was getting on her last nerve." So I said, maybe we shouldn't invite her then.

As for school-we've been getting behavior reports every night-but he's still not doing what he's supposed to be doing. Maybe he needs bigger consequences at home when he gets a bad report. We didn't really talk about that.

Monday, March 08, 2010

Conference call notes

The conference call consisted of some people from PPMD and some that work for PTC. Now, the "primary endpoint" of this study was an improvement in the six minute walk test (6MWT)-the distance a boy could walk in six minutes. There were three arms in the study: low dose Ataluren, high dose, and placebo. And the 6MWT was not looked at on an individual basis; they were looking to see if there was any statistical difference between the three GROUPS of boys, i.e. did the boys on high dose perform better than those on the low dose or placebo. And once the last boy had been treated for 48 weeks, they looked at the data and found that there was no statistical difference between the three groups. They had to shut down the study because the primary endpoint was not met-not necessarily because they wanted to, but regulations dictate that they have to.

It's kind of confusing, because even if the boys on the drug didn't improve individually, if they declined slower than the boys in the placebo group, that would still be considered an "improvement." So they weren't just looking for distances to increase, they were comparing all three groups. Even still, no statistical difference.

The reason they used the 6MWT as an endpoint rather than looking at, say, dystrophin production in the muscle or CK levels in the blood, was because the FDA requires the primary outcome of the trial be "clinically meaningful," meaning it must directly impact some aspect of daily life. Increase in dystrophin production is hard to correlate to impacting daily life, because some boys who have DMD make plenty of dystrophin but their mutation is such that the protein is non-functional. This is all important because in order to get FDA approval, clinical meaning has to be there.

So basically, the only data they have compiled right now is the results of the 6MWT. There is still A LOT of other data they need to look at, and it *sounds* like the company is committed to seeing if there is any way to go forward from here. There are a lot of variables to consider: age, steroid use, particular area of the mutation...even though all the boys have a point mutation, or stop codon, the mutations could be on different exons, or have different amino acids that were switched around, so there are subgroups to look at...so we shall see if anything useful comes out in the coming months. It sounds like it's going to be a bit of a long process. I will try to stay hopeful, but maybe a bit more realistic this time-this has really hit me hard and while it's nice to have hope, when it doesn't turn out the way you want, it's very difficult.

Thursday, March 04, 2010

Preliminary results-not good :(

Here's a link to the press release: Ataluren

The primary endpoint for the study was a change in the six minute walk distance, and there was no change in the study participants. I know they were checking other things, like dystrophin in the muscle and doing bloodwork, too, but I would think that if there was some big improvement in dystrophin production, they would have said something. They are still analyzing efficacy in patient subgroups, but I don't expect that to be good news, either. As it is, they are calling it a failure, and have instructed families whose boys were in the study to stop taking the medication. PPMD is going to have a conference call with the company at noon and will post the information on their website that afternoon, but again, I'm not very hopeful.

I realize that this is how these things go-trials fail all the time, I'm sure. But we, along with a lot of other families, really had our hopes up with this. And like I've mentioned before, other treatments are in only preliminary stages right now, so they are years out. The trial has let me live in denial that it's not going to be as bad as we thought at first, but it really is...it feels almost as bad as when he was first diagnosed.

Anyway, I'll post if anything interesting comes out of the conference call.

Monday, March 01, 2010

Forbes blog post

Forbes

The last patient in the Ataluren trial has been treated for 48 weeks, so the final results could be as soon as 2 weeks! I was thinking it would be at least another couple months, so this is great. The sooner the final results are tallied, the quicker FDA approval will happen.

And I can see why they'd be motivated to get this drug on the market-the article says that it will cost $150,000 a year! That's $410 a day!! That's insane. Insurance HAS to cover this. I don't want to hear any bs about it being cheaper to pay for a power chair or ANYTHING like that. But. I'm not going to worry about that yet. One thing at a time. Results, approval, THEN insurance.