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Thread: Kalydeco and Class IV Mutations

  1. #21

    Kalydeco and Class IV Mutations

    I studied genetics, biochemistry and physiology at uni but I now work as a physiotherapist (I think its called a physical therapist in the us), I've missed using my knowledge so I enjoyed writing that!

  2. #22
    Junior Member
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    Mar 2012
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    7

    Kalydeco and Class IV Mutations

    GenH- Thank you for the post, that was really helpful!
    DrRoe - I saw that article also, I when I asked my CF clinic if this was the article they were referring to she said that it was not. She said that it will be an article specifically dealing with other classes. Who knows...

  3. #23
    Junior Member
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    Apr 2012
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    6

    Kalydeco and Class IV Mutations

    GenH,
    Thanks a lot for your reply this is very clear.
    G970D is maybe 4 or 5, the doctor wasn't sure.
    Hopefully the 3D structure won't be too far from the G970R...


  4. #24

    Kalydeco and Class IV Mutations

    Hopefully it is a mutation where it is at the surface of the cell (like class 3, 4 or 5), which means its more likely that Kalydeco (alone) may help. I did a quick search on G970D and it looks like its quite rare, so I could not see any info about what class it is.

  5. #25
    Junior Member
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    Apr 2012
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    6

    Kalydeco and Class IV Mutations

    They are pancreatic sufficient and the doc told me 4 or 5 for the class. Yes it's extremely rare, my wife is Thai with chinese origins. They took many months to identify it. I would be more than happy if kalydeco could help.
    I assume you are on it based on your mutation, is it?

  6. #26
    Allansarmy
    Guest

    Kalydeco and Class IV Mutations

    I found myself nodding with every sentence. If my son were put in this situation your damn right I would do everything in my power to get my son this medication. If you are being evaluated for actual transplant, then they need to be taking a more drastic approach. You don't have time to sit back and let the politics play out here. There has got to be one doctor out there that would write it for you. Heck if I were a doctor I know I would private message you and write it for you myself <img src="i/expressions/face-icon-small-wink.gif" border="0">

  7. #27

    Kalydeco and Class IV Mutations

    I agree with your comments Allansarmy and saveferris2009, that the doctors never fully understand what its like with CF and the urgency we have for medications like Kalydeco. Marcob- Kalydeco is not available in Australia so I am not taking it. Hopefully vertex will apply to the TGA later this year (like the FDA) which takes 9 months, and then it has to be listed on our health system (so we dont have to pay $294,000!). Hopefully we will have it in the second half of next year. People in Aus below 40% can access it before TGA approval now, but I'm higher than 40%.

  8. #28
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    Apr 2012
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    Kalydeco and Class IV Mutations

    GenH,
    Now it's a matter of months for you, this is really encouraging. Wish you all the best. I think all the time about this treatment and hope it can also work for us...
    There are so many mutations that I hope they will choose a different approach soon, I mean, if the drug is safe why don't we let people try it and see the results, then decide if it works for them or not. If we have to wait for a validation for each mutation it will take a while to determinate the right scope.
    Cheers



  9. #29
    Senior Member
    Join Date
    Apr 2012
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    266

    Kalydeco and Class IV Mutations

    According to THIS http://saltyspark.blogspot.ca/2012/05/where-ive-been.html

    It might work on 621+1G->T which is a splice site mutation!
    I have that mutation, I have to build a case.

  10. #30

    Kalydeco and Class IV Mutations

    There is another person in the Ataluren facebook group who has DF508 & 621+1G>T, she improved 11% (FEV1) and went down 30 points with the sweat chloride. I'm not sure if she posts here. So there are at least two people who have improved...

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