VX-770 Study on Class 3 mutations...

[Taylersmom]

Hello, I am trying to get my son in this study and we are in the process of ordering medical records and signing consent forms. I am wondering if anyone has been in this study? These are the mutations that are included in this study:

A Pilot Study Testing the Effect of Ivacaftor on Lung Function in Subjects With Cystic Fibrosis, Residual CFTR Function, and FEV1 ≥40% Predicted
CFTR Mutations associated with residual CFTR function or defective mRNA splicing include the following:R117H, E56K, P67L, D110E, D110H, R117C, R347H, R352Q, A455E, D579G, S945L, L206W, R1070W, F1074L, D1152H, S1235R, D1270N, 2789+5G->A, 3849+10kbC->T, 3272-26A->G, 711+5G->A, 3120G->A, 1811+1.6kbA->G, 711+3A->G, 1898+3A->G, 1898+1G->A, 1717-1G->A, 1717-8G->A, 1342-2A->C, 405+3A->C, 1716G/A 1811+1G->C, 1898+5G->T, 3850-3T->G, IVS14b+5G->A, 1898+1G->T, 4005+2T->C, 621+3A->G, 621+1G->T




My son is 14, he has some PS, he has the following mutations:
1717-1g->G
V520F








http://clinicaltrials.gov/ct2/show/study/NCT01685801

 

[cftrsplicing]

Actually those mutations are among class IV and V (and some Class I splicing).
1717 mutation is a Class I splicing mutation.
I think Pancreas sufficiency is a marker for eligibility to this study. And it is cause by the association between 1717 and V520F mutation.
Inclusion criteria are:
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 and at least 1 copy of a CFTR mutation associated with residual CFTR function or defective mRNA splicing

First one is enough.