residual function & Kalydeco news


Super Moderator
Thanks for posting the CF Roundtable article Stephen. I wrote it with the hope that it will help someone (maybe many) as much as Kalydeco has helped me.

Missme- there are others besides stephen with one nonsense mutation and another residual function mutation that had a positive response to Kalydeco.

Here’s the abstract:

There does seem to be individualized responses to Kalydeco for those with residual function. I do know of some that have not had success, but there are others (myself included) where it has been life-changing.

If anyone needs any of the full articles/abstracts that are mentioned at the end of the CF Roundtable article, PM me and I’ll send them to you. I have the complete articles for most of them.
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Super Moderator
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.

:) Thought of both of you-- missme and JDsmom:
"In an effort to expand the pool of people who can enroll in trials and accelerate drug development, the CF Foundation is also focusing on helping the performance of clinical trials in the United Kingdom, Europe and Australia. These countries have diverse concentrations of people with specific CF mutations, making it easier to find people who are eligible for certain trials. The European Cystic Fibrosis Society region alone represents people with 1,300 different CF mutations....We need global participation to advance as fast as possible."


Super Moderator
A few months ago, I shared some info. regarding an Early Access Program (compassionate use) for Kalydeco for some residual function mutations. This is not a new program, but it’s not well known. It’s so upsetting to think a compassionate use program hasn’t been accessed because of lack of awareness.

Here’s some more detailed information:

Program designed for individuals 2 years or older with specific residual function genotypes and severe lung disease meeting the following criteria:

• One of 23 residual function mutations: 2789+5G- > A, 3849+10kbC- > T, 3272-26A- > G, 711+3A- > G, E56K, P67L, R74W, D110E, D110H, R117C, L206W, R347H, R352Q, A455E, D579G, E831X, S945L, S977F, F1052V, R1070W, F1074L, D1152H, and D1270N.

• FEV1 of less than 40% predicted OR decline of 20% predicted in a 6 month period and sustained for 1 month OR being evaluated for a lung transplant

This program is offered by Vertex and doesn’t go through your insurance. It’s not a clinical trial so info. can’t be found on It requires that your treating physician file an IRB submission and get approval.

Here’s some general guidance offered by FDA on expanded access programs:

Physicians must submit an application to Vertex on behalf of one of their patients that meet specific criteria.
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