Recent content by GenH

I've just added an Ataluren update to my blog (relates to mutations ending in X), including investor presentation images & clinicaltrials.gov links to the upcoming Ataluren trials: http://sixtyfiverosesblog.wordpress.com/2014/05/22/may-2014-ataluren-update/ There is also more information &...

I've just summarised the May 1 Vertex investor conference, includes info about Kalydeco, VX809 & VX661: http://sixtyfiverosesblog.wordpress.com/2014/05/04/may-2014-vertex-update/ Also, it was announced on May 1 that the trial adding VX661 to patients stable on Kalydeco (with G551D/F508del)...

Interesting post, did your sweat test or FEV1 change at all?

Hi Gemma, I do not know anyone off label with this mutation, but if you haven't already seen these graphs, they show that Kalydeco should help D1152H significantly. The graphs would be strong evidence in terms of accessing Kalydeco off label (if you are in the US)...

Yes if you are lucky enough to live in the US, and have a known residual function mutation or clinical signs of residual function (later age of diagnosis, lower sweat test or pancreatic sufficiency), I would definitely suggest trying to access Kalydeco. Unfortunately it is not the case for...

That image is talking about rescued F508del, which means F508del that has made it to the surface with the help of a corrector (such as VX809). The rescued F508del is less stable than normal so that is why it is included in that image. F508del without a corrector is class 2.

Kalydeco has been approved with 9 gating (class 3) mutations. It is thought it will also help many class 4, 5 and 6 mutations (residual function). I have added info to my blog about the mutation classes and other mutations that may be helped by Kalydeco (including graphs from Vertex)...

I've just summarised the Feb 25 Vertex investor conference, includes info about Kalydeco, VX809, VX661 and second generation correctors: http://sixtyfiverosesblog.wordpress.com/2014/02/27/february-2014-vertex-update/ Also, last week it was announced that Kalydeco received FDA approval for...

There is one heterozygote trial for people with F508del and G551D, but I am not aware of any other trials for heterozygotes. On clinicaltrials.gov this is the only VX661 trial: http://www.clinicaltrials.gov/ct2/show/NCT01531673?term=vx661&rank=1

I recently wrote a blog post about the latest Vertex news (includes info from the Dec and Jan press releases & investor conferences). Since I wrote this post it has also been announced that the combination therapy VX661/Ivacaftor has been granted breakthrough FDA designation...

Thanks rosesixtyfive, happy to spread info about exciting cf research

Another important aspect is that Kalydeco helps people with G551D reach about 50% of normal CFTR channel function (carriers are at about 90% and normal is 100% according to the vertex graphs), and the airway surface liquid depth is about 50% of normal. This means the mucus is much thinner but...

I haven't looked up info about this mutation recently, but looking at the Vertex graphs it has minimal baseline function, which means it is not class 4 or 5. Based on the name it is not class 1 (these end in X, have an arrow or have del/ins etc). This leaves class 2 and 3. It does not respond to...

I've recently added info to my blog about the current gene therapy trial, as well as info about a future trial that involves a new approach: http://sixtyfiverosesblog.wordpress.com/2014/01/20/uk-gene-therapy-update/

Hi all, The Australian Kalydeco campaign has a new petition (started last week) & we would appreciate as many signatures as possible. There are 200+ Australians still waiting for Kalydeco who need your help. Thanks...