Other processing mutations (class 2) that may be helped by VX809 (He et al. 2012):

A study has just been published that investigated whether VX809 might help mutations other than F508del. This paper suggests that VX809 can help the CFTR reach the surface with several other mutations. The laboratory testing found that VX809 increased the CFTR trafficking with H1054D, G1061R, L1065P, Q1071P, L1077P, H139R, R258G, and S945L. I507del and R560T were not trafficked by VX809 in this study.

Source: http://www.fasebj.org/content/early/2012/10/25/fj.12-216119.abstract

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Join the conversation! 4 Comments

  1. Hi, I am wondering if you have anymore info on i507del? I was misdiagnosed with DDF508 in the 90’s but was recently retested for the phase 3 homozygous trial for VX809/770. This test found I was was in fact hetero DelF508/i507del. A real shock to now find I am in a totally different group where the results are not so promising. If you had anymore info on this part : “I507del and R560T were not trafficked by VX809 in this study.” I would be very grateful.
    Many Thanks.

    Reply
    • Hi Delesseria, Sorry I have taken so long to reply. The article did not provide in depth information regarding I507del, stating “In contrast, VX-809 clearly did not promote the maturation of other CF-causing variants in NBD1 (Fig. 6C). The I507 mutant that also causes severe disease was among those, as was the R560T missense mutation.” The article has images showing no/minimal change with VX809. I’ve added a little more info about I507del here: https://sixtyfiverosesblog.wordpress.com/specific-mutation-info/

      Reply
      • Thanks for the info, I am currently on the combo trial for heteros so we shall wait and see, only on day 5!…fingers crossed! As they said i507del maybe helped by the combination.

      • Plus the F508del would be helped by the VX809/Kalydeco as well. The article also did not investigate the effect of VX809 on the combination of the genes (just looked at I507del on its own), which may change the benefit. Hope the trial goes well. Gen

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Category

1. Class 2 Mutations & F508del, 3. Vertex - VX809 & VX661