PDA

View Full Version : Question on residual function



Nikole
04-01-2015, 09:18 AM
Can someone tell me how to find out which mutations are considered residual function? I saw where vertex is doing a new study on one df508 and one with a residual function. My kids have a class I mutation and a df508. Thanks.

Aboveallislove
04-01-2015, 09:39 AM
Vertex listed several in its phase 2 kalydeco study. If you post the mutation ill see what info I can find. The cftr webpage out of John Hopkins might help as well. Also do you know if they are ps and the sweat levels? I don't know if some class 1 are resiudal function or not.

Nikole
04-01-2015, 09:57 AM
DF508 and 711+1G>T, class I. They are PI. My daughters sweat test was like a 128 I think

Nikole
04-01-2015, 09:59 AM
Thank you for any help.

Aboveallislove
04-01-2015, 10:23 AM
More later, but found this:
http://forum.cysticfibrosis.com/threads/38594-VX-770-Study-on-Class-3-mutations
(http://forum.cysticfibrosis.com/threads/38594-VX-770-Study-on-Class-3-mutations)It doesn't look like it is a listed mutation. I don't understand enough of the Class 1, but my thought is depending on where the "stop" or "splice" happens there is residual function or not.
I do know the study for 661 will include an arm for other heteros.
I'll do more research after "school" (I homeschool) to see if I can find anything also out on that specific mutation.

Nikole
04-01-2015, 10:35 AM
Thank you.