Kalydeco & Other Mutations

Kalydeco can help more patients beyond those with G551D (4% worldwide, 8% aus). Kalydeco helps other gating mutations (1% worldwide) and it is thought that residual function mutations will be helped (5-10% worldwide, based on mutations and clinical presentation). This means Kalydeco may help about 15% of the CF population.

Please visit this page http://sixtyfiverosesblog.wordpress.com/kalydeco-with-other-mutations/ for the updated information about Kalydeco with other mutations.

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10 thoughts on “Kalydeco & Other Mutations

    Alyce said:
    January 9, 2013 at 12:07 pm

    Hi,
    I am just wondering if this is being trialled on someone in Australia with 711+3A>G?

      magicbluepill responded:
      January 23, 2013 at 2:41 pm

      The residual function trial is being held in Denver only. The 711+3A>G mutation is listed in the inclusion criteria so it may be involved in the US trial.

    Amy said:
    February 5, 2013 at 1:26 pm

    Do you know what class of mutation V520F is? My daughter has one Delta F508 and one V520f and I can’t find much at all on the V520F.

      genhandley responded:
      February 8, 2014 at 12:40 am

      Hi Amy, I am not sure of the exact class, but I can see in Slide 9 above that it has a low level of baseline function (no residual function, so not class 4 or 5). It could be either class 2 (trafficking/processing), or class 3 that does not respond to Kalydeco. Gen

    Chantal Micheline Joubert said:
    April 1, 2013 at 3:15 pm

    Thanks for this post! really informative! Any idea when results will be out on the ‘other gating mutations’ trial being held at the moment? I understand the researchers expect results at the end of 2013… If this is true and providing the results are positive, when would the drug be available? Thanks.
    Chantal mom of two daughters with s1251n who really could use kalydeco right now….

      magicbluepill responded:
      April 2, 2013 at 3:34 am

      I am unsure about exact timeframes, I have only heard that they are expecting the results ‘later this year’ during the vertex investor conferences. After the G551D trial finished, but before FDA approval, there was a compassionate program for those below 40% FEV1. Hopefully there may be another one of these. Otherwise have you tried to get it off label (if you are in the US)? You would have strong evidence based on the vertex graphs, with S1251N getting to close to normal function in the lab (looks like its about 90% of normal, which is the same as a carrier, G551D is about 50%)

    salima nurani said:
    January 10, 2014 at 5:14 am

    Have you heard any information on the trial for those who are S549N? I believe there is one due to be completed by Feb. 2014. My son is double S549N and is pancreatic sufficient (contrary to what the phenotype traits on the chart indicates).

      genhandley responded:
      February 8, 2014 at 12:47 am

      Hi Salima, as far as I’m aware S549N was involved with the other gating trial that finished last year. Vertex have applied to the FDA and EMA to expand the Kalydeco label to include these gating mutations. Hopefully this approval will occur in the next few months. Gen

    Salima said:
    February 8, 2014 at 1:10 am

    Thank you for your response. I’ve tried to call Vertex to find out what the status is of the results/release of that study and because I’m not a medical professional, they’re not able to give me info(!). I don’t want to add to my already busy clinics workload so I was trying to investigate on my own. If you do hear anything, I would love to keep in touch. Taking the time to share Your experience is so appreciated. Thank you!

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