Just wanted to share some recently published journal articles with the hope that it may help someone with a residual function mutation who is fighting for insurance approval for Kalydeco. I also hope that it encourages those with residual function mutations to get involved with VX-661-108 study that is currently enrolling or talk to their doctors about off-label prescribing.
·
“The use of ivacaftor in CF mutations with residual functioning protein” S. Guigui,
B. Condon,
R.I. Cohen
“We noted improvement in all patients and in all parameters at 6 months compared to baseline. One patient was retested at one month after stopping ivacaftor with worsening parameters. These data support the beneficial effects of CFTR potentiators in CF mutations producing residual functioning protein.”
http://www.cysticfibrosisjournal.com/article/S1569-1993(15)30494-X/abstract
·
“Improved Clinical and Radiographic Outcomes After Treatment With Ivacaftor in a Young Adult With Cystic Fibrosis With the P67L CFTR Mutation” Shatha Yousef, MD; George M. Solomon, MD; Alan Brody, MD; Steven M. Rowe, MD, MSPH; Andrew A. Colin, MD
“
P67L is a class 4 conductance (nongating) mutation exhibiting residual CFTR function. We report marked clinical improvement, normalization of spirometry, and dramatic reduction in radiographic structural airway changes after > 1 year of treatment with ivacaftor in a young adult with the compound heterozygous genotype
P67L/F508del CFTR. The case suggests that ivacaftor may have a potential benefit for patients with CF with nongating mutations.”
http://journal.publications.chestnet.org/article.aspx?articleid=2173461#Abstract
I will forward articles to the CFF’s Patient Assistance Resource Center. I’m hoping they can get access to full article content that can be submitted for insurance appeals.
