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Thread: Kalydeco and Class IV Mutations

  1. #1
    Junior Member
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    Mar 2012
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    Kalydeco and Class IV Mutations

    Hi all, I am new to the site but look forward to being a part of the cf community that has formed here. I am a 34 year old male with the DF508 and R347P and currently in the early stages of transplant evaluation. I have been trying to get my center to prescribe Kalydeco but have been unsuccessful. At my last visit they said they spoke to a vertex rep that said that Van Goor is soon to publish a paper outlining the effects of Kalydeco on different classes of mutations. She also said that Van Goor stated that kalydeco had no effect on my specific mutation, R347P.
    This is obviously upsetting to me as I thought that 770 potentiated all CFTR (as per previous Van Goor comments). I also was hoping since R347P is a conductance mutation, the probability that 770 would be effective was high. So maybe it potentiated but was not clinically effective?
    Has anyone heard about this publication or having any information from it?
    Are there any R347P'ers out there?
    Has anyone found any info on class IV mutations and 770? (beyond the presentation slides Vertex distributed recently)
    Thanks!

  2. #2
    Senior Member
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    Dec 2008
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    Kalydeco and Class IV Mutations

    I wish I had more information from you.

    But, if I were you, I would go to any and every doctor (CF or otherwise) to get an Rx of Kalydeco. You don't have the time to wait for papers or for doctors to contemplate their navels.

  3. #3
    moxie1
    Guest

    Kalydeco and Class IV Mutations

    "contemplate their navel"
    Thanks for the laugh!

  4. #4
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    Kalydeco and Class IV Mutations

    It's true! These docs don't have CF - no matter how empathetic they are, they will NEVER fully know what it's like to have this disease. So they don't have the same sense of urgency that we do. ESPECIALLY if you are near Tx. Does their life change dramatically when you get to end stage and need a tx? NO. Do they have to be on immunosupressants for the rest of their lives? Avoid big crowds? Worry about their future? NO NO NO! How could you NOT let a patient try this drug? The drawbacks/side effects are so minimal it's INEXCUSABLE not to let a patient with any mutation try it. If you aren't vocal, you can let these docs slowly take away your health. And your life. OK I'll stop now.

  5. #5
    moxie1
    Guest

    Kalydeco and Class IV Mutations

    Saveferris,
    I totally agree with everything you said. It's just that I've never heard that expression before and it just cracked me up!
    I have a very good doctor. However, most of what has helped me, I have gotten for myself. Years ago, when it just came out, I read about the vest and advocated for one. I'm taking Bioadvantex NAC because of my own research and it helps me alot. I have an ElectroFlo 5000 percussor that also helps me alot. Did any physiciantell me that these things existed? No!
    You do have to be your own advocate and you need to do your own research!

  6. #6
    Junior Member
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    Apr 2011
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    Kalydeco and Class IV Mutations

    pjammer65
    I m from Turkey and my son's mutations are Delf508&R347P. He is 20 months old then i want to ask something. Can you help me?
    Thanks.

  7. #7
    Junior Member
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    Oct 2011
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    10

    Kalydeco and Class IV Mutations

    My grandson has delta 508 and r347p. He is 4 and is pancreatic sufficient. I would be very interested in knowing how your health has been over the years. Thanks to you and I appreciate any feedback.

  8. #8
    Senior Member
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    Kalydeco and Class IV Mutations

    I agree saveferris2009!! I am trying right now to get my daughter a prescription and being met with some resistance. I took my doc a hand full of paperwork this weekend though!! I pray he reads it soon and gets back with me and does not drag his feet. And sweet Rebecca just gave me some more ammo this weekend to send to him! Keep your fingers crossed for me! <img src="i/expressions/face-icon-small-smile.gif" border="0"> I will let everyone know as soon as I hear something. Abby got tested for her 2nd mutation on May 8th so can't wait to find out her 2nd mutation as well.

  9. #9

    Kalydeco and Class IV Mutations

    pjammer65- I am not sure when you mention slides if you mean this: http://iom.edu/~/media/Files/Activity%20Files/Research/GenomicBasedResearch/2012-MAR-21/3%20-%20Peter%20Mueller.pdf , but this mentions that the following mutations may be helped (there may be other mutations as well, Vertex mentioned '55' in total):

    Mild conductance mutations: R117H, D110H, R117C, R347H, R352Q
    Mild processing mutations: E56K, P67L, L206W, A455E, D579G, S945L, R1070W, F1074L, D110E
    Unknown protein defect: D1152H, S1235R, D1270N
    Gating: G551D, G178R, G551S, G970R, G1244E, S1255P, G1349D, S549N, S549R, S1251N

    R347P was not listed on that slide, maybe the paper will have more info. I have not seen any other research where the classes are mentioned, only the journal articles about G551D.

    I am looking forward to the paper by Van Goor about the different mutation classes with Kalydeco.

  10. #10
    Junior Member
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    Mar 2012
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    7

    Kalydeco and Class IV Mutations

    @saveferris - Thanks for the reply. I totally agree with you, I do not see the harm in at least prescribing the med. I am not sure, but I think that part of my problem is that I belong to an hmo. They have told me that my insurance (their employer) definitely would not allow it off label without a strong case because of the cost. Over my past 3 appointments it seemed like my odds were looking good to at least get the rx. But then word of this new Van Goor paper shot that down. I will look into other doctors and see if I can get it elsewhere. When you do get the prescription, who battles with the insurance, you or the doctor? Do they want clinical data or just to be heavily persuaded?
    @ffevziyildiz- Feel free to ask me whatever you like.
    @sandy52546- I was diagnosed right after birth and led a pretty normal life up until later highschool. I was a baseball player and started to really notice shortness of breath when running. It got bad enough that when the team would do endurance runs, I would do other activities. Prior to that, I was hopsitalized or did home iv 'tune ups' around every 2 years. Following highscool I went to college full time, and worked full time. I believe this hit my health pretty hard and if I could do it over I would not have worked so much. In this time, at the age of 25 or so, my fev 1 dropped to the 35% range. I am now 34, and in the past 9 years I have pretty much maintained my health. When 'maintaining' my fev 1 is maxes out around 33%, but when I am sick, it gets down to the 20-25% range. about 6 years ago I did have one particularily bad infection (Couldn't breathe, lost 40 pounds, etc.) that prompted my doctors to send me to get the transplant workup done. I bounced back, but still go to the tx docs and have been for about 5 years now. They continue to say I am too healthy (thank god!) but they want to keep evaluating me regualrily in case things change. I am not on oxygen and still exercise regularly. I feel as though I breathe better than my numbers show, and even my doctors are a bit baffled by it. When I am sick, they are surprised by the activities that I can still engage in. As for pancreatic issues, I am a little strange there too. I have no problem gaining weight without enzymes and my digestive system functions normally. But if I do take them, they mess with my stomach. But my nutiritionist tested me, and she says that I am one of the most deficient people she has seen, so who knows. Let me know if you have anymore questions!
    @JENNYC- What is your approach in trying to get a script? Good luck!

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