New trial with Kalydeco and splicing/residual function mutations

[Aboveallislove]

GenH:

I'm reading it like a laywer ;-), so maybe FDA folks write differently, but the "at least 1 copy of a CFTR mutation associated with residual CFTR function or defective mRNA splicing" is a clause of the third criteria. If it was required for all criteria, I'd think it would have been written as:


"At least 1 copy of a CFTR mutation associated with residual CFTR function or defective mRNA splicing, and clinical evidence of residual CFTR function based on any 1 of the following: 1)Clinically documented residual exocrine pancreatic function, 2)Sweat chloride value ≤80 mmol/L at screening, or 3) Age of diagnosis ≥12 years.
I'm not trying to be pedantic--this difference I think is significant because if the type of mutation is not specified that would seem to make this test a really good "catch-all" n-1 trial. So that if ddf508 CFs actually have exocrine pancreatic function, they'd qualify. And at a investor conference Vertex referenced the new study as a n-1 . . . so that seems like it might be the goal of this study.

 

[GenH]

GenH:

I'm reading it like a laywer ;-), so maybe FDA folks write differently, but the "at least 1 copy of a CFTR mutation associated with residual CFTR function or defective mRNA splicing" is a clause of the third criteria. If it was required for all criteria, I'd think it would have been written as:


"At least 1 copy of a CFTR mutation associated with residual CFTR function or defective mRNA splicing, and clinical evidence of residual CFTR function based on any 1 of the following: 1)Clinically documented residual exocrine pancreatic function, 2)Sweat chloride value ≤80 mmol/L at screening, or 3) Age of diagnosis ≥12 years.
I'm not trying to be pedantic--this difference I think is significant because if the type of mutation is not specified that would seem to make this test a really good "catch-all" n-1 trial. So that if ddf508 CFs actually have exocrine pancreatic function, they'd qualify. And at a investor conference Vertex referenced the new study as a n-1 . . . so that seems like it might be the goal of this study.

Yes I agree, I had also interpreted it the same way as you as well, it can be read either way. I guess to me it just seems odd to have the genetic evidence as just part of the third criteria. It is not clearly worded!

I agree that it would be good to test as many of the residual function mutations & splicing mutations as possible, as well as people who have clinical evidence but not genetic evidence. But it is hard to do both well with only 18 people (small sample size, harder to get statistical significance particularly with two subgroups), so thats why I was thinking it would be 'safer' in terms of the results if they used people with genetic and phenotypic (clinical) evidence.

 

[Taylersmom]

Hey guys thx for all the info.. I too have contacted Connie via voicemail and email. She replied to me via email and stated the same thing ... It will be ongoing for recruitment for 6 months and that she will get back to me with further info! I went a little further with it and decided to email all the heads of clinics that do these types of studies.. Kieser, Rady childrens hospital, Stanford, SCU ect.. I copied the link from clinical trial wed site and asked if they were going to be conducting this study. I had a good response so far and a few of the places said they would get ahold of me when and if they do.

My son has the qualifications for this trial and I am determined to get him this medication! Keep positive, keep fighting!

Mom to Tayler 14....(cf) 1717 1G>A / V520F
& Destyni 19 (no cf)

 

[brandonalbert]

Taylersmom: You are doing an awesome job for your son! Keep us posted on your progress. Crossing my fingers for you

 

[triples15]

Hey guys thx for all the info.. I too have contacted Connie via voicemail and email. She replied to me via email and stated the same thing ... It will be ongoing for recruitment for 6 months and that she will get back to me with further info!

I guess I'm the only one she's not replied to. I emailed her a week ago Friday, and called the week before that. I'm happy for those of you that got a response and I really hope you are able to get in! Wouldn't that be great to go open label???? It's an awesome chance to get on the drug!

Take care,
Autumn