Could Kalydeco benefit 621+1G>T?
"Some splicing mutations (621+1G->T, 1717-1G->A,1078delT, 711+1G->T, 1525-1G->A, 2751+2T->A, 296+1G->C, 1717-9T->C from (C. Castellani et al. / Journal of Cystic Fibrosis 7 (2008) 179–196) , even if categorized in the severe Class I, may be able to produce some aberrant/incorrect CFTR. This difference distinguishes those defects from the stop mutations that are also in Class I." Read more here: http://www.cftrsplicing.com/page.php?7
Pilot Study Testing the Effect of Ivacaftor on Lung Function in Subjects With Cystic Fibrosis and Residual CFTR Function: This study is a multiple within subject crossover study to evaluate the effect of ivacaftor on lung function in subjects aged 12 years and older with cystic fibrosis (CF) who have phenotypic or molecular evidence of residual CF transmembrane conductance regulator (CFTR) function. Read more here: http://www.clinicaltrials.gov/ct2/show/nct01685801
I got kicked off my hospitals Patient Advisory Council... for being a patient advocate - *Picture taken from Twitter at @FlipTheClinic.* Almost as quickly as I answered the phone, I heard the words: *"We are going to have to remove you as Co-Cha...
5 days ago