Just realized that clinicaltrials.gov site still doesn't include which mutations. If anyone missed previous thread, the study is inclusive of the following mutations:
2789+5G?A, D110E, R352Q, A1067T, 3849+10kbC?T, D110H, A455E, R1070Q,
3272-26A?G, R117C, D579G, R1070W, 711+3A?G, E193K, S945L, F1074L, E56K,
L206W, S977F, D1152H, P67L, P205S, F1052V, D1270N, R74W, R347H, K1060T
If you have a residual function mutation (pancreatic sufficient OR sweat chloride between 60-80) that is not listed in this study please post. I'm wondering what other mutations (besides mine) are "missing". Thanks
There is another study that is not currently enrolling, but should be soon. Your son's mutation is included (missense mutation). But you have to be 12 or older to participate.
Here's the thread that discusses study:http://forum.cysticfibrosis.com/thr...FTR-Mutation-not-likely-to-respond-to-therapy
If he's pancreatic sufficient, there's a very good chance that he will have a good response (even to Kalydeco alone). You may want to try and get off-label. You can always start the process and see what happens. Do you think your doctor would be willing to write a prescription? How is your son's pulmonary status?
Hi! I'm new to this site and forum. My previous post got lost while I was writing it... so I gues I'll have to try to write less and faster. I have one of the mutations listed in the Denver study; the 4005+2T->c but it was NOT among the 23 residual ones in Vertex's application to the FDA early this year. I wonder why some were left out...
I am pancreatic sufficient and really hope I will get to try Kalydeco one day in a not to distant future. I live in Sweden, so off label isn't a possibility here.
I also wonder weither the phase 3 you are refering to here with heterozygote deltas will be proof enough for the FDA or EMA to approve Kalydeco for residual/splicing mutations that dont have a delta on the other allele? My other mutations is a nonsense mutation but Ataluren doesn't even remotely look as promising as the results from.the denver study.
Thanks for your reply! I have an appointment with one of the senior doctors at my clinic soon, one.of wery few who actualy knows anything about new therapies. I hope she isn't prevented from saying what she knows, if she knows.something. I contacted Vertex naively thinking they would answer my questions but they told me they couldn't say anything but my doctor could get in touch with them if they had questions.I wish I had the answers to your questions. I can’t figure out why they left out some of the mutations from the Denver study or why they chose to limit the inclusion criteria to specific mutations instead of also including those that had clinical evidence of residual function like you. The study is finally closed and March 2017 is when they are projecting the final collection date for primary outcome measure. I’m not sure what the timeline will be after this. Hopefully, data is analyzed quickly and FDA passes. I’m not sure if they will pass for those not heterozygous for F508del. I’m hoping they will, theorizing that since F508del doesn’t respond to Kalydeco, those in study that responded to Kalydeco alone were responsive because of their one residual function mutation. (there were 2 arms in study- comparing Kalydeco alone with 661+Kalydeco). Hoping they will include those with clinical evidence of residual function, but unfortunately, I think this is unlikely since that’s not how study was designed. So sad that those that have the potential to benefit, but don’t have specific mutations included, may not even have the chance to try.
If I hear anything further, I’ll be sure to let you know.
missme and others,
I know it can be extremely frustrating contacting Vertex about Kalydeco (and probably Orkambi) if you are not taking it On-label. I’ve tried a number of times. They will not even discuss information that is public knowledge.
As you mentioned, getting Kalydeco is not an option in Sweden where you live. That’s unfortunate.
For those in the US with Residual Function Mutations who may have been unsuccessful in getting Kalydeco Off-label, there is an excellent cover article in the Summer 2016 issue of CF Roundtable titled "The Option Of Off-label Kalydeco".
The article has a lot of great information. If your doctor has been reluctant to prescribe it, I highly recommend you take a copy to your next CF Center visit.
PS: It’s nice to be back to a familiar Cysticfibrosis.com forum format.