Anyone approved for Kalydeco for a 5T variant


New member
I have a stop codon on one gene and a 5T variant on the other gene. The second gene has polymorphisms but no known disease causing mutation. My doctor is working on the insurance approval now. I have had a 6 month lung function decline, diagnosed with CFRD last week, and culture PA. Any tips or research I can give my doctor to help my cause please share. Anyone on Kalydeco with 5T variant as the only thing decreasing CFTR on that gene?


Super Moderator
Sorry, I can't help with your specific question but wanted to throw out an idea: Has your doctor contacted Vertex? Under the FDA regs, Vertex cannot do anything to "market" it off-label, but if a doctor requests information from Vertex on any studies, then Vertex can provide it. So, might want to call Vertex and say that your doctor is looking to prescribe it off label and would like to request any research they have and ask Vertex the telephone number and contract for your doctor. They won't give you the research but should your doctor. Then if you give that to your doctor, he should be able to contact Vertex and ask for any in vitro or in vivo research they have on Kalydeco working on your specific mutations.


Super Moderator
Are you pancreatic sufficient or was your sweat test diagnostic of CF but on the lower side of abnormal (I think less than 80 was the value they used in the inclusion criteria for Denver trial for residual function but I’m not sure) If so, than you would be considered to have some residual function and there’s a good chance that you would have some response to Kalydeco. Although, I’m not very knowledgeable at all about variants and polymorphisms so I’m not sure how that would play into it all. I have some information for you regarding Kalydeco benefitting residual function mutations that I would be happy to send you. What insurance do you have? What state do you live in? The reason I ask is because some states have laws regarding off label use that may be helpful in the appeal process. I'd be happy to help you in any way I can. I've had a very positive response to off label Kalydeco and want to do everything I can to help others that have residual function gain access to it. From all the research I've done and all the stories I've read, I feel strongly that it's just a matter of time before it will be approved for those with residual function. You mentioned that you have had a decline in the last 6 months. I really feel for those like you who are struggling and don't have time to wait. Feel free to PM me and I'll send you what I have.


Super Moderator
Kalydeco essentially surplants a non DNA base, aspartic acid or D's with the DNA base G or guanine. A T polymorphism should have no interaction with Kalydeco. I don't know if any other helpful moderation would act on the problem caused by T polymorphisms and an important question to ask. Other drugs in various stages of trials are also moderators in hopes that a combination of specific moderators will address most or all CFTR mutations.

I have followed your rare genetics and have been secretly licking my chops waiting for a solid explanation for all the symptomatic CFers with one mutation and some form of T polymorphisms. The evidence has been established but it is fairly recent data. Please let us know when you find out.

I wish I could be more positive, never quit looking.