How is it for the F508del?

K

Kaethe108

Guest
Hey there!

I follow the great and exciting news about Kalydeco and VX-809 with great interest. It looks like the people with two F508del will also be lucky to get a new treatment in a not so far future.

But how is it with the people who have ONE F508del?
Is there anything promising in the pipeline for them?

Our daughter has F508del and a stop-mutation. But PTC124 does not turn out so promising yet, right?
So maybe we will have to put our hope on a new drug from Vertex?

For any knowledge, hints, news, experiences etc. I would be happy to hear!

Greetings from Germany,
Kaethe ;0)
 
J

juliepat

New member
just found that: Study in People with One Copy of the F508del MutationIn addition to the Phase 3 studies in people with two copies of the F508del mutation, Vertex plans to conduct an 8-week exploratory Phase 2 study of VX-809 in combination with ivacaftor in people 12 and older with one copy (heterozygous) of the F508del mutation on one allele and a second mutation that is not expected to respond to either ivacaftor or VX-809 alone. This study is designed to provide additional safety and lung function data on the combination in heterozygous patients, and will evaluate the twice daily (q12h) combination of VX-809 (400mg) and ivacaftor (250mg).
It's from page: http://investors.vrtx.com/releasedetail.cfm?ReleaseID=743425

 
J

JENNYC

New member
Kaethe, of course this is just my opinion, but if you think of diagnosis if you only have 1 mutation you are considered a carrier and to not have CF symptoms right? Well if this helps the mutation F508 then it should HELP anyone with that mutation whether you have 2 copies or not. That is just my opinion of course. For example: we take Hyper-sal because it HELPS, we take Pulmozyme because it HELPS, now Abby takes Kalydeco because it HELPS, not fixes not cures just HELPS. And the HELP I have personally witnessed from Kalydeco is so much greater than you can imagine, just to hear her not sniffling and coughing all the time is a miracle and I wouldn't want to go back for anything. So I can't wait to see how much this HELPS her, and I think you should be very excited about this drug!! They may try to label it, which will be sad, to only DDF508's but if you can get your hands on it I bet it will greatly HELP anyone that has even 1 copy of F508!! When I read this I immediately got teary eyed thinking of how close it is!! Praise God!!!
 
K

Kaethe108

Guest
I was thinking the same but then I read that people with just one copy did not benefit too much from it.

Can anybody explain please?
 
J

JENNYC

New member
I gotta throw my 2 more bits in again. I just want everyone to know that "a little bit of benefit" can mean more than what you think. I don't want you to think that it is even "almost a cure" cause it's not but a "little bit of benefit" can mean a quality of life change....it can mean not coughing every few minutes....it can mean breathing easier....it can mean fighting off some infections on your own. A little bit can mean a lot even though it is not your cure. Kaly just helps Abby a little, but that little is mountains in quality of life. Sorry I am just so passionate about letting others know how even a little can mean a lot. TOMORROW WILL MARK ABBY'S 1 YEAR WITH NO HOSPITAL STAYS!!!! With this LITTLE HELP!! We are so excited. She has had 2 hospital stays every year since diagnosis without fail until now!!! She has still been sick...pretty much this whole time due to the bad cold fronts we've had...but her little body is fighting back now!! I still hate that she is sick so much...but that's life with CF...only life is a little better now!! Sorry I'll get off my box now :) I just have to let everyone know that this is beyond my wildest dreams all of these new drugs they are creating!!! I have other friends that have had this same reaction but sadly their dr's would not let them continue...that I just can't understand. I don't understand why it is any sweat off their back to write that prescription that can give quality of life and maybe some length too. I thank God every day for allowing Abby to be a part of this miracle.
 
S

sue3582

New member
I know that it is not a huge jump in lung function, but does anyone know if it at least keeps lung function steady, if not the same? While I would love an increase, I would be happy just knowing that it won't get worse.
 
K

Kaethe108

Guest
Jenny, I think its great that u share your experience with us!
our daughter is still very young and health problems are not so severe yet, but it is just wonderful to be able to have HOPE that her life quality will benefit from the new drugs!
 
G

GenH

New member
Kaethe108 said:
Hey there!

I follow the great and exciting news about Kalydeco and VX-809 with great interest. It looks like the people with two F508del will also be lucky to get a new treatment in a not so far future.

But how is it with the people who have ONE F508del?
Is there anything promising in the pipeline for them?

Our daughter has F508del and a stop-mutation. But PTC124 does not turn out so promising yet, right?
So maybe we will have to put our hope on a new drug from Vertex?

For any knowledge, hints, news, experiences etc. I would be happy to hear!

Greetings from Germany,
Kaethe ;0)
Click to expand...

I think you have probably seen my posts in the Praying for Success with VX809/770 facebook group (I recognise your name), but I'll repost my comments here as well.

VX809 has been trialled with F508del heterozygotes (one copy F508del), but the results have not been as strong as the homozygote results. F508del homozygotes produce more F508del that VX809 can correct and Kalydeco can potentiate. People with one copy would still have some improvement but there is less F508del that the meds can help. They are working on other meds like VX661 and the second generation correctors to try to further increase the improvement.

At the moment F508del homozgotes get to about 25% of normal CFTR function in the lab (and I have not seen data about heterozygotes), but Vertex have said even a 10% improvement in CFTR function would be clinically significant. If you have a look at the images below, even a 10% improvement would take you 'up' a category, eg from pancreatic insufficient to pancreatic sufficient. It is likely that heterozygotes would have some benefit and may be more clinically stable.

View attachment 243View attachment 244

I have written more information here http://magicbluepill.wordpress.com/future-medications/
 
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