Monday, February 13, 2012


The CF world has been exciting since my last post! I'm sure all CFers (and many non-CFers) know that a few weeks ago the FDA approved a revolutionary CF drug, Kalydeco. I saw one news story say that Kalydeco was "to CF what insulin is to a diabetic." AMAZING. It may be very close to a cure for some people with CF. The stories of people getting their prescriptions filled is so freaking awesome - tears of joy, even from the pharmacists! One parent even videotaped their son taking his first pill :)

The downside is that Kalydeco is only approved for some people with CF, people with the G551D mutation who are six and older. Clinical trials have shown that the drug is a miracle for these people, but that it is not for people who have the most common mutation. Thankfully, there are two drugs in the pipeline that are addressing the most common mutation. So there is so much hope in the CF world right now!

So, now for what I have been doing - researching, researching, and more researching. I have the R117H gene, and the moment I saw the phrase that Kalydeco is a potentiator of the R117H mutation, I started trying to learn everything I could about how the drug might work on my mutation. Might this be a cure for my CF??? Might this stop the night sweats, the coughing, the post nasal drip, the days where I just feel like crap, the pulmonary episodes, the sinus infections, etc.? Might this mean that I no longer have to worry: "Will I meet my grandchildren?" "When am I going to start needing regular hospitalizations, and how will that affect my family?" "Should I bother to save for retirement?"

Based on everything I have read, I think I have a lot of reason to have hope. And last week, I almost died of shock and excitement when I learned two things: Kalydeco is a pregnancy category B drug! This means I could potentially take it during pregnancy and nursing and not worry so much about getting sick. AND, my insurance claims they will cover it off label! I especially could not believe the second one, considering the medication costs $294,000 per year. Holy.freaking.cow.

So now to the next step - asking my doctor for his help. I have gathered all of my research, printed it and done some highlighting, and this is what it boils down to:

-The cause of CF is that certain ions are not processed correctly in cells. One of the problems is with an ion channel, which Kalydeco addresses. It is the first drug that directly fixes the CAUSE of CF, not just the symptoms of thick sticky mucus, inflammation, infection, digestive issues, etc.

-Kalydeco increases channel gating. This is why it works so well for people with the G551D mutation - the whole thing that causes their CF is defective channel gating. In CF, there are five classes of mutations, and G551D is in what they call a Class III, or "gating" mutation.

-In vitro studies have shown that Kalydeco also increases channel gating in many other gating mutations. These studies have been published. Based on these studies alone, the pharmaceutical company (Vertex) is requesting that Kalydeco be approved for ALL gating mutations in Europe. If I had one of these gating mutations, I'd probably be knocking down my doctor's door trying to get it off label.

-My mutation, R117H, is classified as a "Conductance Mutation." HOWEVER, I've read two sources that say the primary problem with my mutation is actually channel gating, not conductance (although there is reduced conductance).

-The in-vitro data for R117H has not been published. But it is good enough that Vertex announced they are going to begin clinical trials for my mutation this year (I whooped like I was watching football when I read that announcement!). I do not qualify for the trials because my lung function is too high.

-I know someone who has a contact at Vertex, and they sent this in an email:

"The answer to that question is that Vertex has not yet tested the effect of Kalydeco in people with the R117H genotype. However, based on testing on airway epithelial cells from patients with that genotype, we believe that Kalydeco could have a similar effect to that seen in individuals with the G551D genotype. We hope to study the effect of Kalydeco on individuals with this and other genotypes in the near future."

I called Vertex and asked about the in vitro results for R117H. They said my doctor would have to call for that information. I am planning to ask him to call, and if the results are similar to those for the gating mutations, I am hoping he will consider prescribing it off-label. I am very excited and nervous for the appointment, because I have dying to get ahold of the in vitro results for almost a year.

Of course, the other big "if" is if my insurance will cover it. They said they would, and I asked for a letter stating this. We'll see if I get it. But I do have hope because I already know of two people who have gotten it off-label based on age (they have the G551D gene but are younger than six).

Fingers crossed! I can't wait for Thursday!


semperfiohana said...

i'm so excited about this!! i am in the process of getting this drug! i about jumped up and down when i saw it was a cat b!!

Alissa Coronado said...

This is VERY exciting news! my son is a year and a half now and has the G551D mutation. I cant wait until they approve it for kids ages 2-5!

Carolyn said...

Both my sons are in the trial for ptc124 which is like the kalydeco drug but for different genes. We have to go to Denver for the trial ( we live in Austin) and I know they are also doing the trial for kalydeco. They pay for the flights down their and we get the drug for free while we are in the trial. They are on the real drug for two year and hopefully by then it will be approved. The drug is working! Both their fev1 's are up and my younger sons psedo that he has had for two years is gone! Also their clubbed fingers have gone from a 5 (the worse) to a 2! Lots of other great improvements as well! You might check into trying to get into a trial for kalydeco! Good luck!

Kristen said...

semperfiohana and Alissa - I am so excited for you guys!

Carolyn, that is GREAT news about ptc124 - You are the first person I've heard from that has seen results on that trial! This makes me so happy! I called clinic about getting in the clinical trial, but the woman said I don't qualify because my FEV1 is too high.

Carolyn said...

Kristen, I forgot about the range you have to be in for the study drug. I guess that is good news as far as pft's being too high (better than too low) but a bummer as far as not being able to get into the trial.

I have heard a lot of mixed things about ptc124 too. A lot of people that are on it have a gene that starts with w but my boys have R1162x and a delta508. Not sure if that has anything to do with it or if it is because my kids are so young and maybe have less damage. They told us my 9 year old was the youngest in the study. I am not sure but I hope more people start seeing results. I also hope they keep coming out with drugs like this for all cfer's! Sorry about not being able to get into the trail!! I guess on the positive side it is a very grueling schedule. They have to give blood once a month and go to Denver every other month for lots of tests. Hopefully the drug will be approved for your gene type real soon!

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