This site has a mix of items that are about the future (usually life changing if they make it to the CF public) and small items that may only have a small impact. This post is about one of those far off treatments, however one that has a real short at making it to a decent portion of the CF community.
When I saw A Genetic Approach to the Treatment of Cystic Fibrosis by Peter Mueller, I was blown away. We’re finally getting some in vitro data showing how well Kalydeco works against many other cystic fibrosis defects.
Kalydeco rescues residual CFTR defects
The PDF should be reviewed directly as there is so much meaningful information here.
After seeing the in-vitro data, the next logical question is what is the roadmap for making Kalydeco available to patients where in vitro results look promising?
The PDF touches on this as well at a very high-level. Some of the defects that may benefit from Kalydeco are so rare, an clinical trial could never be performed under the current standards. Vertex touches on this with an n-of-1 approach where trials could be as small as one individual. There is a great slide in the PDF where a patient starting the trial would receive a trial kit from Amazon, load an app on their smart phone and start the trial. It looks like this is just in the idea stage so far and getting this through the FDA seems daunting to say the least. However, it does give hope for all those that fall into one of the 2 categories (gating defects and residual CFTR activity) where Kalydeco may be beneficial.
Again, please see the pdf for all the great information within.