Wednesday, 2 March 2011

Epic post-VX770/VX809. My take on it.

***I gave up on the title for this once I saw how long this post actually is. Apologies in advance and if you make it to the bottom you deserve some sort of consolation prize***

There has been a huge buzz in the CF community for some time now but last week some results were announced that could potentially change the future for our little ones and the many many people living with Cystic Fibrosis.

Vertex have been trialling a new drug that could actually fix the route cause of CF. I say 'fix' loosely as it isn't the full cure but it's pretty damn good.

The drug is VX770.

Now there are many drugs in the pipeline all the time but not many get as far as this one has. So this is huge and has definitely been one to watch with anticipation.

Here's the science bit..

To understand how this drug will work, you have to first understand the underlying problem in people with CF. I will do my best to explain (with a little help from external sources)...

Salt is made up of sodium and chloride and our bodies are very clever at regulating the level that wont cause problems and death. In people with Cystic Fibrosis, their bodies cannot transport chloride properly. This causes a build up in the body and the only reaction their bodies can do to balance out this overload is to increase production of sodium and therefore, water doesn't get distributed as it should.

This is the reason that when a person with CF sweats, they taste very salty and kick out much more salt than someone without CF.

However this is not just happening on the outside, it's affecting the inside too.
The cells that line the lungs and airways, digestive tract, sinuses and other organs can all be affected, because the body cannot regulate the concentration of salt properly resulting in the thick, sticky mucus that causes so many problems in people with CF.

So what does all this have to do with genes huh?

Well the gene that regulates sodium and chloride transport is known as the CFTR gene (cystic fibrosis trans membrane conductance regulator). The CFTR gene provides the information needed to transport sodium and chloride ions across the cell membrane. This in turn controls and regulates the flow of water in mucus, sweat, tears, saliva, and digestive enzymes.

The CFTR gene doesn't function properly in people with CF because they have inherited TWO (sometimes more) mutations of that gene.

It gets (more) complicated though as there are over 1500 known CFTR mutations and they are grouped into six categories. Each category upsets the CFTR gene differently but all cause Cystic Fibrosis, just in varying degrees.

So will VX770 fix all of this?

The answer in simple terms is no.

VX770 has been developed to target ONE specific mutation known as G551D which is a class 3 mutation (remember the categories I mentioned earlier).

In this particular mutation of the gene, the chloride is able to travel a good distance a long the tunnel of the cell but it hits a dead end as the gate is firmly closed. VX770 has been developed to open that gate and therefore allowing the CFTR gene to function as it should.

The results are out and they read very very well, so well in fact that I got rather excited when I read them. Sweat chloride levels had dropped to NORMAL ranges, little to no chest exacerbation's whilst taking the drug, weight gain and also great improvements in lung function.

This is huge.

So where's the catch?

I hate the fact that there is a catch but it's there with huge flashing neon lights I'm afraid. It has to be approved firstly and then licenced, and most importantly it will only be of any real use to 4% of people affected with CF. It also cannot reverse any damage already caused.

Sophie isn't part of the 4%.

Her mutations are DF508, which is a class 2 mutation and D1152h, which is a class 4 mutation.

This huge breakthrough will pave the way for future drug developments that hopefully one day, will target all mutations.

The exciting news for us is that Vertex already have another drug in the pipeline called VX809, which has been designed to target specifically the DF508 mutation, which would help Sophie.

The trials haven't been as promising as the 770 ones though, but they have been trialling VX809 in combination with VX770.

The problem with the DF508 mutation is the chloride isn't able to travel along the tunnel of the cell and if even it could, the gate at the end is firmly shut tight just like the G551D mutation. So the hope is VX809 would allow the chloride to flow down the tunnel and then VX770 would unlock the gate at the end, allowing for the CFTR gene to function properly.

This trial is still in it's early days, but compared to the placebo group, there have been improvements in function and sweat chloride has been reduced. We now have the long wait as a phase 2 trial is currently underway and results are to be announced later this year.

We all campaign for a cure, but honestly, unless the gene trials here in the UK and around the world work I'm not convinced that we will see one in Sophie's lifetime, however I remain optimistic and incredibly hopeful that drugs such as the VX770 and VX809 will be the next best thing.

So the main thing to bare in mind is the importance of keeping our kiddos as healthy as possible and any lung damage to a minimum. If the combined VX drugs work as well as 770 has on it's own, Sophie and her many friends will have a very promising future.

Exercise, treatments and good nutrition it is then!

I just want to extend our thanks to every single person who has/is participating in the drug trials as without you, we wouldn't have anything to be hopeful about.

If anyone has any questions please ask. I hope my take on things isn't too confusing as I only have what I consider a basic understanding of these things!

Take care all.



  1. Gemma, a big round of applause to you for that thorough yet UNDERSTANDABLE explanation! It's so tough for me to get my head around the science - I usually have to reread stuff 4 and 5 times before it even begins to make sense.

    Please let me know where to find your post about the differing classes of mutations. Charlie and Lola have the Delta F508 on one gene and a 3-pack on the other. I'm curious to see where the three fall in terms of classes.

    Great news and great post. I'm confident that more good is coming our way.

  2. This was a really good explanation!! :D I find these things so confusing!!! What I do understand is very very promising though.


  3. You did a great job explaining it all! It's so reassuring to hear that they are working on it! Found you through the blog hop! I'm a follower! =)

  4. Hi Gem, love the photo's of Sophie, she seems to have grown up so much lateley and is growing in confidence every day. She has come a long way this year, I am sure this is due to not only Sophie's character but to you,her daddy and all the hard work her hospital team and school have put in. I have been following reports on this drug for a few weeks now but did not understand all the medical terms used. Thanks to your informative blog I now understand far more than I did, thanks. It is not only brilliant news for some CF sufferers but a giant step foreward to hopefully finding cure, take care all.

  5. WOW!! GREAT JOB!! Thanks for posting this!! Do you mind if I share it on my blog???

  6. I got to the end!! Great explanation, this is fantastic news, so hopeful :)

  7. You've managed to make a lot of complicated information comprehensible. Great info on your blog.

    I'm following from bloggymoms

  8. well done you for writing this lot in laymens terms! realy good news matie. You should consider writing a book gem, you write so well and make things interesting! big hugs to soph and c u soon xx

  9. its lauren by the way!!!

  10. This was a great explanation! Sure hope these new drugs will help your little one!

    Stopping by from Bloggy Moms!

  11. Thanks for the explanation. I've learned to follow the science fine, but I like your descriptions better. Thanks for taking the time for this. Victoria is DDF08 so we're really watching VX770 & VX809 combination trial.

  12. I am very new to CF, my little grandchild of 9 wks. diagnosed with CF. I have been attempting to gather as much knowledge of CF as I can and thank you for a thorough explanation. My grandchild has Delta 508F and G551D mutation and could you please tell me if I am correct in thinking that when available to young children th VX770 should hopefully be helpful to my grandchild? Also if this drug is successful is it likely to eliminate 'physion and other CF treatments? Best wishes your little girl keeps well.

  13. Thanks everyone, I'm glad so many of you have found this helpful!!

    To anonymous :)

    In answer to your question,VX770 should help your grandaughter because one of her mutations is the one that 770 is targeted to fix. This is good news for you guys as 770 is working and working well and should hopefully be availale in the states in 6 months followed by europe a little later.

    I'm not sure how it will work in terms of distribution because as with anything there are huge cost implications and it may be that those in desperate need of it will get it first. However my hope and belief is that all who eligible (ie those with the mutation) will eventually have access to it.

    The other good news for you guys is vx809 and vx661 are both in trials for the DF508 mutation too so many drugs could help your little grandaughter in the future.

    Trials have shown that people taking VX770 have had dramatic improvements in day to day life including little to no chest infections whilst on the drug. In theory if it works as well as already seen for everyone then in theory, no physio will be needed in the future and many typical CF treatments will become a thing of the past.

    So for now we have to wait and watch how things play out.

    Hope that helps a little but feel free to ask any more questions, I'm happy to answer what I know but must stress that most of what I am saying is my understanding and take on the trial results and findings and future theories.

  14. I'm impressed by the way you explain this all so understandeble! Thanks for this! I am 57 years old and have CF. I'm glad with every day. I hope one day there will be a drug for all the mutations.....

  15. They'll be starting the kid's trials for the 809 mixed with the Kalydeco here in the US in a couple of months. My daughter will be one of those participating. Her mutations are double DF508, so she's a prime candidate for the 809 mix. I'm just hoping that down the line it will affect her digestive enzymes (which is where her main problem lies - her lungs are nearly normal, but her pancreatic enzymes are nearly non-existent) and will keep her lungs where they are right now. We'll just have to wait and see...according to the nurse, it could take several years for the long-term effects to show.


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