I have read there are about 114 of "me" in the world - R334W. Anyone here with that?
I was very hopeful as I did research and discovered that my mutation in a class IV conductance mutation and since I have CFTR and the cell surface that Kalydeco should be effective. However, as I did further research, I was disappointed as the in-vitro studies of my mutation,r334w,did not show promising results with Kalydeco. VanGoor classifies r334w as a severe conductance mutation. See the following slides: http://www.flickr.com/photos/66477137@N05/7670225762/.
Even with these results, I still believe Kalydeco should have some effect on me since I am pancreatic sufficient and must have some functional CFTR at the cell surface for this to be possible. I was very close to participating in the Ivacaftor clinical trial in Denver, however I am not able to since you are required to stop hypertonic saline for the duration of the study. Ironically, my doctor had stopped HTS on me about 3 months ago, thinking that I may have developed a sensitivity to it and it may be contributing to my inflammation. This 2 week trial without HTS did not go well and my PFTs dropped about 15%. So I know I wouldn't be able to omit it from my regime for the duration of the clinical trial which I believe is 7 months. I have not attempted to see if my insurance company would approve Kalydeco off-label, but highly doubt they would with the research that has shown it to be ineffective with my mutation during in-vitro studies.