Kalydeco is the first drug available that targets the
underlying cause of CF. All the other
therapies available for CF treat the symptoms of the disease. So this pill is a real breakthrough! Kalydeco improves the faulty gene and its
protein product, CFTR. As we know
Kalydeco, is only approved for use on individuals who have the G551D
mutation. CFers who have the G551D
mutation have the defective protein in the right place on the cell surface but
it does not function correctly. Instead,
it acts as a locked gate which prevents the proper flow of salt and fluid in
and out of the cell. So what Kalydeco
does is it unlocks the gate and restores the function of the CFTR protein. This allows for proper flow of salt and fluids
on the surface of the lungs. By allowing
the proper flow of salt and fluid, the mucus in the lungs is less sticky and
thin.
Kalydeco is not a cure in any means but it is something that
will prolong life for years to come in my opinion. In fact, the pill has shown to improve lung
function, lower sweat chloride levels which in turn has lowered sweat test
results, and has also helped individuals gain weight. Basically, the people who have G551D mutation
and are taking Kalydeco are living what I would call a “CF free symptom” life
or mostly symptom free life. But the thing
is that Kalydeco has only been found effective so far to help G551D mutation
which is about 4% of the CF population or slightly over 1,000 CFers.
So what about all the rest of us who do not have a G551D
mutation? Well there is hope and it is
really exciting to be reading about the research that Vertex has been
doing. For most of us in the CF
community we have at least one copy of mutation DF508 and that is where a lot
of the research is being focused on the DF508 gene more so individuals who have
two copies of DF508. The problem with
the DF508 mutation is that the defective protein is not at the correct place on
the cell surface and the gate is locked for the proper flow of the salt and
fluid in and out of the cell. Whereas
the G551D mutation has the defective protein, CFTR in the right location but
the gate is locked. So in order for
Kalydeco to work on individuals who have the DF508 mutation the cell needs to
move the CFTR to the cell surface and open the gate. We know that Kalydeco can open the gate but
Vertex is still working on getting the CFTR up to the cell surface. In fact, they have released some exciting
data on moving the CFTR to the cell surface with a pill called VX-661 and
VX-809 and then opening the gate with Kalydeco.
Here is the link for the news release for the the results of VX-661 and
Kalydeco.
http://www.cff.org/aboutCFFoundation/NewsEvents/4-18-Phase-2-Combo-Study-Kalydeco-VX-661-Results.cfm
It looks like there will be a more clinical trials for both
VX-661 and VX-809 and Kalydeco. In the
VX-661 study it has shown to have improved lung function by a whopping 9% and
lowered sweat chloride levels in individuals who have two mutations of DF508
which is the most common CF mutation.
This is really really exciting and looks like the magical pill(s) will
be looking for FDA approval in the near future.
I have heard as soon as 2014 that Vertex will be submitting and looking
for FDA approval on VX-661 and or VX-809 and Kalydeco for individuals who have
two copies of DF508. I cannot wait for
this day!!!
Ok, but wait there are still a good amount of CFers who do
not have two copies of DF508. In fact, I
am in that boat. But I truly believe if
this VX-661 and Kalydeco combination will work on two copies of DF508 then it
will work on people who have just one copy.
They may have to play around with the dosage and strength to get a
“perfect” mix but it is going to happen, I know it is!
But my main reason for writing this blog today is to talk
about some exciting things I have read about Kalydeco and possibly helping
other mutations. I became aware of this
through a forum I read and leave comments on.
While scrolling through a couple forum posts I found one that interested
me big time. It had the wording of
Kalydeco and 3849+10kbC->T. I decided
I better read this because I have one gene mutation of DF508 and the other is
3849+10kbC->T. In fact I even found a Facebook group that has members who
have my same gene copies, WOO HOO! When
I started reading this forum and Facebook posting I couldn’t believe what I was
reading. I think this was one of the
greatest finds I have ever found online and I am so excited that all my time
and effort on forums is going to help me possibly. As Maria says, I am addicted to anything CF
related online and I guess this time it really is going to pay off.
So here is what I have been spending a lot of my time
reading and not blogging lately. But I
guess I have good reason! I honestly,
thought all along that Kalydeco could help me and my one gene 3849+10kbC->
because this gene does produce functional CFTR at the cell surface but the
quantity of CFTR is affected. I even
asked my doctor when Kalydeco first made it to the market if it could help me
or other genes. His answer was that is
the big question. Well I think I am
finding out the answer to my question and I CANNOT BELIEVE what I am
reading. Apparently, there is an actual
research study that is being conducted at a Denver Colorado hospital testing
the effect of Kalydeco (aka Ivacaftor) on lung function in subjects with CF
that have residual CFTR function. My
3849+10kbC->T gene is in this group.
On the facebook page that I belong to, I was reading that
Kalydeco is really helping people with my CF combination. There are a few people who are in the study
and another mom who has traveled from Italy to the USA to get her son on
Kalydeco. I honestly could not believe
what I was reading. The mother from
Italy had said that her son’s FEV1 increased by 7 or 8 points and he was able
to gain a good amount of weight. I have
also read that some people in the Denver study have also seen their PFT improve
while on Kalydeco in the study. All of
this is really hitting home for me that the magical pill is within reach very very
soon!
There are also other mutations that the Denver study is
enrolling. In fact here is a list of the mutations that they are testing Kalydeco
on and some of you I know who read this blog have a copy of one of these gene
mutations. CF Stinks I know you can
participate in this study!!!
CFTR Mutations
associated with residual CFTR function or defective mRNA splicing include the
following:
R117H, E56K, P67L,
D110E, D110H, R117C, R347H, R352Q, A455E, D579G, S945L, L206W, R1070W, F1074L,
D1152H, S1235R, D1270N, 2789+5G->A, 3849+10kbC->T, 3272-26A->G,
711+5G->A, 3120G->A, 1811+1.6kbA->G, 711+3A->G, 1898+3A->G,
1898+1G->A, 1717-1G->A, 1717-8G->A, 1342-2A->C, 405+3A->C,
1716G/A 1811+1G->C, 1898+5G->T, 3850-3T->G, IVS14b+5G->A,
1898+1G->T, 4005+2T->C, 621+3A->G, 621+1G->T
This link
contains the clinical trial for the experimental Kalydeco below. http://clinicaltrials.gov/ct2/show/NCT01685801
So to summarize
this very long post it looks like there will be a magical pill possibly for
residual CFTR function. The results of
the Denver study will be posted in September 2013 which is very soon. But if anyone wants to enroll in the Denver
study they are still accepting patients.
It really is to bad that they are only offering this study in Denver. But I have heard that Vertex Pharmaceutical
will pay for your expenses to attend this study.
I will leave with
you a to BE CONTINUED blog because I still have not said if I will be
participating in this study. I also have some other information on this study
to summarize but I figured I better end it here. So for anyone who is interested in this study
or would like to know if I will be participating in this study let me know if
you would like Part 2.
Alayna in her high chair for the first time!