http://www.dailyrecord.co.uk/news/scottish-news/cystic-fibrosis-girl-maisie-gets-1594768
Read about little Maisie who is on her first few days of Kalydeco, those feelings of wondering what all the signs in your body may or may not mean are all so fresh this story brought me to tears. I am so so happy to see more countries realizing what this drug really means to so many of us.
It is only because of fundraising that so many of you are SO involved in that this drug ever made it to patients and through the rigourous trials and approval process. The CF foundation co-funds the research that would never otherwise have occurred.
This is SUCH an exciting time and there is so much research going into getting this sort of drug developed for the other 96% of CF patients. I can't explain how excited I am to be a part of just one small piece of that research to extend the use of Kalydeco to more CF'ers. It is easy to get wrapped up in the day to day "doing" and the month to month travel schedule and forget what it is all an actual part of!
BIG.NEW.Breath A Blue Pill A Day Keeps CF at Bay............???
Musings from a Participant N=1 Kalydeco trial for those of us with partially preserved channel function.
About Me
- Nicole
- If you are here checking this out leave me a comment, I'd love to hear from you. I was diagnosed with CF at 21 years of age after battling stomach and respiratory problems throughout my childhood. My mutations are E60X and P67L the later being the one that is excessively rare, seems to take credit for my so far milder progression, and qualified me for the study. I feel incredibly Blessed to be as healthy as I am so far and to be receiving this opportunity to give back to the CF community.
February 10, 2013
January 18, 2013
Getting Going in the Morning
Musings over the morning. So getting in my Bible devotional assuming the kids don't beat me awake, getting the kids up, ready, lunches packed, myself made presentable are all important to me but for the life of a CF'er there is another very important part of the morning.....
Morning meds.
Morning meds.
This picture is a portion of my morning routine this month, just thinking over the time it involves (me to do it) the time it took (people to develop the different meds) the COST...wow this represents a monthly prescription cost of about $35,000
(two boxes of pulmozyme, one box of cayston, one box of xopenex, and theoretically 60 cayston pills).
One of these days I'll have to blog over all of it for those of you not as familiar with the CF regimen or just for comparing notes.
Forgot the KEY to my morning routine today.............COFFEE
January 17, 2013
One Week
Today is one week I've been on the VX-R&D pills, taking the last pill of the pack now. Exciting stuff. Yes travel is a big commitment, yes there are not guarantees but I highly, highly recommend participating in a study if the opportunity arises. This is definitely going to be an exciting year full of changes!
Here is me starting the trial :-)
Here is me starting the trial :-)
Only me!
So I have the study pills they are nicely labeled....VERY clear instructions, 7 rows 2 columns one with AM/sun over it and the other with PM/moon over it. Idiot proof right? WRONG!
I went to take my day 7 EVENING pill and...it wasn't there. I have NO idea what I did, I am thinking I must have taken my morning pill twice...?
#only.me!!!!
I went to take my day 7 EVENING pill and...it wasn't there. I have NO idea what I did, I am thinking I must have taken my morning pill twice...?
#only.me!!!!
January 14, 2013
A Genetic Approach to CF Treatment
If you haven't checked this out yet take a look, super cool stuff. I will try to go through it and pull out some highlights over the next few days..........or if you are here and know of a great blog or site that has already done this let me know and I'll ask them to link their site here.
http://iom.edu/~/media/Files/Activity%20Files/Research/GenomicBasedResearch/2012-MAR-21/3%20-%20Peter%20Mueller.pdf
Here is a picture of my little blue lightning :-) tonight, some asked how large it is, this gives you a good idea as it is perched atop a dime.
http://iom.edu/~/media/Files/Activity%20Files/Research/GenomicBasedResearch/2012-MAR-21/3%20-%20Peter%20Mueller.pdf
Here is a picture of my little blue lightning :-) tonight, some asked how large it is, this gives you a good idea as it is perched atop a dime.
Sharing is Caring, but how much?
Hi All,
It's blowing my mind how many people are tuning in to this blog just since I originated it three days ago. Originally I thought this would be for friends & family and a few CF'ers I know well.......a few has turned into a WHOLE.LOT more people. I am in awe at this opportunity, I am humbled, I am Blessed, I thank God not only for the opportunity but for so many caring people in my life and beyond who are interested and for the AMAZING state of progress and research for CF. I want to share every detail, to "take you along with me" in the hopes of inspiring others to take their health by the reigns, to participate in studies if they can, to do what they can to improve their health! Unfortunately there is a line to what I can share, I will be documenting everything as I go along and can't wait until I CAN share more.
Respectfully yours,
Respectfully yours,
Nicole
January 12, 2013
US FDA announces first Breakthrough Therapy Designations
Check it out here: http://www.pharmatimes.com/mobile/13-01-09/us_fda_announces_first_breakthrough_therapy_designations.aspx?r=1
The N=1 study I'm in is one of a few different ones they have going, mentioned below in 1st bold section.
The US Food and Drug Administration (FDA)'s first Breakthrough
Therapy Designations have been granted to two cystic fibrosis (CF) treatments
from Vertex Pharmaceuticals.
One designation is awarded to Vertex'
Kalydeco (ivacaftor) monotherapy, for potential additional indications beyond
the drug's currently-approved use in CP patients aged six and over who have the
G551D mutation in the cystic fibrosis transmembrane conductance regulator
(CFTR) gene; there are estimated to be around 2,000 such patients worldwide.
The other is for a combination of Kalydeco with the investigational compound
VX-809, based on Phase II combination data announced last year.
Multiple studies are currently underway to determine whether
patients with other CFTR mutations may benefit from ivacaftor alone, and Vertex
is also planning to start, shortly, a pivotal Phase
III programme of VX-809 in
combination with ivacaftor in people who have two copies of F508del, the most
common CF mutation.
Breakthrough Therapy Designation was
enacted as part of the 2012 Food and Drug Administration Safety and Innovation
Act (FDASIA). The initiative is intended to expedite the development and review
of a potential new medicine if it is "intended, alone or in combination
with one or more other drugs, to treat a serious or life-threatening disease or
condition, and preliminary clinical evidence indicates that the drug may
demonstrate substantial improvement over existing therapies on one or more clinically
significant endpoints, such as substantial treatment effects observed early in
clinical development."
The first designations were welcomed by
US Democratic Senator Michael Bennet who, with Republican Senators Orrin Hatch
and Richard Burr, authored the Advancing Breakthrough Therapies for Patients
Act, a bill included in FDASIA's drug approval and patient access component.
The bill amends the Food, Drug, and Cosmetic Act to require the FDA to
facilitate the development and expedite the review of breakthrough drugs.
The news is welcome for patients
"who live their daily lives suffering from cystic fibrosis and are waiting
to learn if potential new treatments can help them," said Sen Bennet.
"Now, FDA will work with Vertex to move these potentially lifesaving
treatments through the FDA's approval process quickly and safely - and
hopefully they'll be in the hands of patients in the near future."
As he introduced the Act, Sen Bennet
had pointed out that: "we're seeing major breakthroughs in drugs and other
treatments for debilitating and terminal diseases, but we're not always getting
them to patients through the most efficient and safe pathways." The
inclusion of the "breakthrough" provision in FDASIA would provide the
flexibility "to allow home-run treatments that show great promise early
can reach patients more quickly. It also strikes a careful balance between
providing regulatory certainty for developers of these breakthrough treatments
and maintaining the level of drug safety and efficacy patients expect and
deserve," he said.
For patients, the provision would allow the FDA the ability
to move toward more innovative clinical
trials, such as minimising the number of patients enrolled in trials with a
placebo and shortening the duration of trials when scientifically appropriate,
added the bill's sponsors.
"Our goal for the breakthrough
designation is that it will help bring more and more lifesaving cures to
patients more efficiently than ever before," says Sen Bennet.
Vertex says that that the implications
of its two Breakthrough Therapy Designations cannot be determined at this time.
The firm adds that it is working with the FDA and other global regulatory
agencies to determine any potential implications of the designations to its
ongoing and planned development activities, and subsequent regulatory
submissions, for the two treatments.
How Did This Trial Opportunity Come About?
The
development of Kalydeco is exciting in and of itself, the trial is exciting in
and of itself, but I think that how I came to be IN the trial deserves
explanation because, to me, it is one of the most exciting parts of this. The
number of events aligning, the timing, the way it’s all worked out so
effortlessly….call it coincidence, call it the stars in the galaxy aligning,
call it luck, but I feel this development in my life has God’s imprint on it.
The Events:
One day long long ago…ok not so long ago, about 6 years ago to be precise. I had given birth to Lillian a few weeks prior and started to feel that it was my responsibility as a mother to do more, to educate myself, to be healthier, to be pro-active. I felt, and still do, that I owed it to my child, now children, as well as my husband to be around for as long as possible. My first step in this process started via the internet, after a middle of the night nursing I wasn’t feeling so hot, I was doing a nebulizer treatment and started browsing the internet, I noticed that there was a whole community of CF people online chatting, trading notes, ideas, and a large subset of them were challenging one another to be more compliant, pro-active, and healthy.
One day long long ago…ok not so long ago, about 6 years ago to be precise. I had given birth to Lillian a few weeks prior and started to feel that it was my responsibility as a mother to do more, to educate myself, to be healthier, to be pro-active. I felt, and still do, that I owed it to my child, now children, as well as my husband to be around for as long as possible. My first step in this process started via the internet, after a middle of the night nursing I wasn’t feeling so hot, I was doing a nebulizer treatment and started browsing the internet, I noticed that there was a whole community of CF people online chatting, trading notes, ideas, and a large subset of them were challenging one another to be more compliant, pro-active, and healthy.
I listed my
mutations and some basic ‘stats’ of CF on my profile on the forum I frequented.
Since one of my mutations is exceedingly rare and the only thing I could find
on it was that it had a ‘dominant mild effect’ I thought perhaps someone would
see it someday that also had the same mutation or that knew something about it.
I had been on the CF forums for a couple years when I met someone else with that mutation, first it was me helping them with a new diagnosis but soon this phenomenal person was raising loads of awareness and research and even helping to steer research!
Now fast forward to Nov2012 when I get a call from this person who has wonderful news, he shares research with me that I was not aware of showing that the break through drug Kalydeco has been shown in the lab studies to be effective to treat P67L and there is a P67L'er out there taking the drug off label and guess what...?....amazing results! They were now answering the questions for me, inspiring me! I decided to call my doctor armed with the research and try to get a prescription written and then cross my fingers hoping insurance would cover it.
For those of you not familiar Kalydeco, while miraculous is they FIRST drug targeted to treat a specific genetic mutation so currently Kalydeco is only FDA approved for people with G551D mutation. “Off label” means using a drug to treat something other than what it’s indicated for so for instance if they develop a medication to lower blood pressure and then realize that it also works really well for helping people loose weight than if a doctor is prescribing it to help you lose weight they are prescribing this “off label” because that is not what the approved label indicates it is to be used for. Normally off label isn’t as big of a deal but when you have a price tag of $30,000 per MONTH and a whole LOT of people with CF wanting to try it then it becomes a HUGE deal. Right now physicians have been instructed not to prescribe off label#period, some are to a select few but most are not.
Now fast forward to Nov2012 when I get a call from this person who has wonderful news, he shares research with me that I was not aware of showing that the break through drug Kalydeco has been shown in the lab studies to be effective to treat P67L and there is a P67L'er out there taking the drug off label and guess what...?....amazing results! They were now answering the questions for me, inspiring me! I decided to call my doctor armed with the research and try to get a prescription written and then cross my fingers hoping insurance would cover it.
For those of you not familiar Kalydeco, while miraculous is they FIRST drug targeted to treat a specific genetic mutation so currently Kalydeco is only FDA approved for people with G551D mutation. “Off label” means using a drug to treat something other than what it’s indicated for so for instance if they develop a medication to lower blood pressure and then realize that it also works really well for helping people loose weight than if a doctor is prescribing it to help you lose weight they are prescribing this “off label” because that is not what the approved label indicates it is to be used for. Normally off label isn’t as big of a deal but when you have a price tag of $30,000 per MONTH and a whole LOT of people with CF wanting to try it then it becomes a HUGE deal. Right now physicians have been instructed not to prescribe off label#period, some are to a select few but most are not.
I called my
doctor who is also the head of the clinic, I explained that I was not just
requesting it because I, like everyone else, wanted to give it a try, I wanted
it because A-I had the research to show it was effective in the lab and B-my
mutation is so rare noone was ever going to study it, you can’t possibly get
around a study group large enough when there is estimated to only be 200 people
worldwide. We talked, he said he would think about it but he had to also think
about the practice and whether it would bring backlash against the practice for
not following the guidelines set out by the CF foundation, he also had already
turned a huge number of requests down but he did agree with me that my rational
was sound and it probably WOULD be an effective drug for me but he needed some
time. I agreed and asked him to call me by the end of the next week (impatient?
yes demanding?yes. If you know me....that's me - to a T…when I want something I’m not taking NO easily).
The next
week I hadn’t heard from him so I called him, he said he needed more time but was
working on. While not pleased I agreed to wait to hear from him the next week.
Next week came and I was beginning to feel for sure it was going to be a NO, lo
and behold I did receive a call from him, THREE times in one day, we were
playing phone tag and my phone was getting horrible reception so I kept missing
him, finally at the end of the day I heard from him. He had some information
for me about what he had been looking into and he had a proposal. Hhmmm,
interest piqued-cool.
One of the partners at the practice, the doctor I normally see, presented my type of scenario as a question on the best thing to do at a national thoracic conference – cool. The general consensus was that they shouldn't be prescribing based on who they felt the drug was going to work for and that they were all ea backlash when insurances started denying claims and/or requesting to see proof of G551D genetic mutation-not cool.
One of the partners at the practice, the doctor I normally see, presented my type of scenario as a question on the best thing to do at a national thoracic conference – cool. The general consensus was that they shouldn't be prescribing based on who they felt the drug was going to work for and that they were all ea backlash when insurances started denying claims and/or requesting to see proof of G551D genetic mutation-not cool.
He did find
out however that there was a study happening in denver Colorado at National Jewish that included
my mutation. Now, to be 100% honest I knew about this, I chose not to forward
the information on to him because I thought the trial was supposed to just be for people
in Denver (my understanding is that it originally was) and B- I wanted the drug I figured it would take forever for anything to happen and assumed I couldnt' get in the trial anyway. He went on to explain the basics of what
the trial actually was, what it was doing, what it would be like, and that he
had already talked to Denver and they were not only willing to consider
accepting me but had just had a meeting the week prior trying to figure out HOW
to find a patient just like me J…goosebumps
much? The timing on how this whole thing worked out is crazy awesome.
So since it
was after close business on Friday I did what any rational….err
impatient and excited person would do, I sent an email to the address my doctor
had given me with all my basic information and a request for a phone call.
Monday morning I called the numbers I had been given at 9:30 (I didn’t want to
seem TOO impatient ha ha ha); what I didn’t realize is that one of the numbers
I called was the nurses cell phone and it was only 7:30 in denver…oops. I
submitted my information, signed a form to release my information, and had my
local CF clinic send everything over.
I got an
email back from the nurse just a few days after I sent my information, it
seemed so easy they wanted to set the times up and everything, I just didn’t
believe it so I called them to ask what was going to disqualify me, what the
catch was, etc. It seems that the research center was just as eager to have me
as I was to have the opportunity. In a funny twist the nurse that emailed and
called me has the same name as the person who offered me (and I accepted) a position at my company job just 15 minutes prior........accepting a new position and then ‘breaking’ the news that you were
going to be flying out to Denver 1-2X/month was a whole other can of worms! Again I am so thankful to have supportive people, flexibility, and great benefits as none of this would be feasible to do without it.
Flying to Denver for the Trial
Today,
9Jan2013, is a pretty typical Wednesday but it sure doesn’t feel that way from
where I’m sitting. The weather is
atypically warm but that isn't what I’m speaking of. Today is atypical because
I am sitting on a plane now and even though I’m not a big traveler that is probably
the least of the ‘atypical’ for the day. Today, I am flying into Denver
Colorado where I will travel to National Jewish Hospital to take part in a
phase 3 clinical trial. This trial is very groundbreaking both in the type of
trial that it is, what it has the potential to achieve for the cystic fibrosis
community, the amazing potential benefits for me, and if successful the
implications for my family.
I wasn’t
sure what else to say so I worked on a spreadsheet for the past 2 hours, now as
we are nearing landing, I’m back to thinking again. Very excited, very antsy, very Blessed…now
that we’re 20 minutes from touching down in Denver I am ready to get this show
on the road!
WHAT is this study you are doing?
1st the Gobbeley-Gook.......English
below
NOTE: Below is public information available at clinicaltrials.gov and anything outside of what is directly copied from the website is my interpretation and only my interpretation which may or may not be true and accurate.
NOTE: Below is public information available at clinicaltrials.gov and anything outside of what is directly copied from the website is my interpretation and only my interpretation which may or may not be true and accurate.
Official Title: A Pilot
Study Testing the Effect of Ivacaftor on Lung Function in Subjects With Cystic Fibrosis, Residual
CFTR Function, and FEV1 ≥40% Predicted
Brief Summary: This study is a multiple within subject crossover
study to evaluate the effect of ivacaftor on lung function in subjects aged 12 years
and older with cystic fibrosis (CF) who have phenotypic or molecular evidence
of residual CF transmembrane conductance regulator (CFTR) function.
Official Title:
|
A Phase 3, Two-Part, Randomized, Double-Blind,
Placebo-Controlled, Crossover Study With an Open-Label Period to Evaluate the
Efficacy and Safety of Ivacaftor in Subjects With Cystic
Fibrosis Who Have a Non-G551D CFTR Gating Mutation
|
http://www.clinicaltrials.gov/ct2/show/NCT01685801?term=kalydeco&rank=17
_________________________________________________________________
So for this study instead
of trying to prove that K works for a certain subset of mutations they are instead trying to
prove that they have a scientific way of showing who does and does not benefit
from K.
For example my mutation is estimated to have less than 200 people worldwide so they could never enroll enough people to do a study. In order to ‘prove’ something you have to have statistical significance which means a large sample of people to test. How then do you show that it works (or doesn't) and get it approved for use?
Thus they will give patients a trial of K and then see if it works w/in
a certain period of time and what variables show an improvement compared to when they were only getting placebo. The way the study is set up would allow them to see by what point those who do react positively started having the improvements and what exactly showed the improvements since I am on K for
a period of 2 weeks, 4 weeks, and 8 weeks during the study.
So the set up of the study is:
Note: You
are randomly assigned to one of the study sequences and either way you do both drug and placebo; neither we nor the doctors know which sequence we are assigned to.
Phase 1 (2 Stages - each stage is 2
Weeks; one stage placebo, one stage drug)
- Kalydeco 2 weeks --> Placebo 2 weeks
- Placebo 2 weeks --> Kalydeco 2 weeks
*4-8 WEEK BREAK to ‘wash
out’ Drug; this serves to get us back to our normal baseline*
Phase 2 (2 Stages - each stage is 4 weeks)
- Kalydeco 4 weeks --> Placebo 4 weeks
- Placebo 4 weeks --> Kalydeco 4 weeks
*4-8 WEEK BREAK to ‘wash out’ Drug; this serves to get us back to our normal baseline*
· Phase 3 (1 Stage – 8
weeks – everyone is ON)
There are 4 potential sequences: Kaly=ON; Placebo=OFF
·
2 weeks(ON then OFF) - 4 weeks(ON then OFF)
--> 8 WEEKS ON
·
2 weeks(OFF then ON) - 4
weeks(OFF then ON) --> 8 WEEKS ON
·
2 weeks(ON then OFF) - 4 weeks(OFF then ON)
--> 8 WEEKS ON
·
2 weeks(OFF then ON) - 4 weeks(ON then OFF)
--> 8 WEEKS ON
January 11, 2013
The Most Important New Drug Of 2012
PHARMA & HEALTHCARE FIND THIS ARTICLE HERE: http://www.forbes.com/sites/matthewherper/2012/12/27/the-most-important-new-drug-of-2012/
The Food and Drug Administration looks set for a
great 2012; with a few days left to go, it has approved 40 new drugs and
vaccines, one of the most impressive totals ever, according to data from
Pharmaceutical Approvals Monthly and FDA press releases. In this haul, one
medicine stands out for its scientific and medical importance.
Kalydeco, for cystic fibrosis, is a triumph of
genetics and drug development, the first medicine to directly affect the genetic
defect that causes the disease. It will only help 4% of the 70,000 people who
suffer from declining lung function, damaged pancreases, and shortened lives
due to CF worldwide, but in those few it has a dramatic effect. It makes
medical history for three reasons:
·
It’s a genomics triumph: Francis Collins, later famous for heading the Human Genome Project
and then the National Institutes of Health, discovered the gene that, when
mutated, causes cystic fibrosis 23 years ago. Kalydeco is the first drug to
directly affect the defects caused by these mutations, leading to improvements
in patients’ lung function.
·
A patient group powered its development:Kalydeco would probably not exist were it not
for the Cystic Fibrosis Foundation, which funded its early development at
Vertex and gets a royalty on the drug. This success paved the way for other
disease foundations including the Michael J. Fox Foundation, Myelin Repair, and
the Multiple Myeloma Research Foundation.
·
Its price: Kalydeco, given alone,
will only help a few thousand patients the world over. Like other drugs for
very rare diseases, its price is very high: $294,000 per patient per year.
Vertex shares have fallen 37% from their high
earlier this year because of doubts by investors that Vertex will succeed in
its attempts to dramatically expand Kalydeco’s use by combining it with a
second drug that will make it work in CF patients whose disease is caused by
other, more common, mutations. Initial results were very promising, but then
Vertex had to restate them. Sales of its best-seller, Incivek for hepatitis C,
are dropping. But whatever you think of Vertex shares, Kalydeco is already a
success, with $113 million in sales in the first nine months of 2012.
Kalydeco
was not the only important drug this year, in which the FDA also approved the
first flu vaccine made in cells, not chicken eggs (that’s a Novartis product)
and several important cancer drugs including Onyx’s Kyprolis, Medivation’s Xtandi, and Roche’s
Perjeta. Nor is it the most commercially important — that honor goes to
Gilead’s Stribild combination pill for HIV, which could help preserve that
company’s HIV franchise through patent expirations. But it’s probably the most
exciting as a harbinger of drugs to come.
Will Pfizer Challenge Vertex Pharmaceuticals’ Orphan Drug Kalydeco (Ivacaftor) Cystic Fibrosis Empire ?
November 21, 2012
Pfizer announces on November 19, 2012,
that the company is to receive up to $58 million in a 6-year pre-clinical
R&D program, from Cystic
Fibrosis FoundationTherapeutics (CFFT). The program is to
develop new drugs for the most common mutation of the disease – the Delta
F508 mutation. CFFT is the nonprofit drug discovery and development
affiliate of the Cystic
Fibrosis Foundation (CFF).
Almost
90% of CF patients have at least 1 copy of the Delta F508 mutation. This
mutation prevents a protein from maintaining the proper flow of salt and fluids
into airways, causing thick secretions to form.
The Cystic Fibrosis (CF) Foundation gave $75 million to
Vertex Pharmaceuticals for the “collaboration of scientific, clinical, and
financial support for the development of orphan drug
Kalydeco (Ivacaftor)”.
Vertex Pharmaceuticals reports on November 1, 2012, at their 3rd Quarter
2012 financial results meeting, the following for their CF Development Programs
:
1) Three
Phase 3 label expansion trials :
-
Phase 3 study of Kalydeco currently ongoing in patients with CF, 6
years and older, and have at least 1 copy of the R117H mutation – an
estimated 3% of US CF patients have at least 1 R117H mutation
-
Phase 3 study of Kalydeco currently ongoing in patients with CF, 6
years and older, and who have at least 1 non-G551D CFTR gating
mutation – an estimated 1% of US CF patients have at least 1 non-G551D gating
mutation
- Phase 3 study of Kalydeco recently initiated in children with CF,
2 – 5 years of age, and who have a gating mutation; enrollment to
start by end of 2012.
2) One
Phase 2 study underway for Kalydeco monotherapy :
- Phase 2 proof-of-concept study evaluating Kalydeco in people with
clinical evidence of residual CFTR function – an estimated 5 – 10% of US
CF people may have residual CFTR function
3) Study to start
at beginning of 2013 to evaluate combination therapy of VX-809 and
Kalydeco, in patients with CF, ages 12 and older, and with 2 copies of the
F508del mutation – most common form of CF
4) To identify additional
CF treatment regimens in collaboration with
the CF Foundation Therapeutics.
References
Cystic Fibrosis
Foundation Drug
Development Pipeline
PharmaPhorum.com
November 20, 2012 article titled, “Cystic Fibrosis Foundation to invest up to $58m in
Pfizer partnership”
Copyright ©
2012-2013, Orphan Druganaut Blog. All
rights reserved.
Drug Fulfills Promise Of Research Into Cystic Fibrosis Gene
Find the story and podcast here: http://www.npr.org/blogs/health/2013/01/02/168353348/drug-fulfills-promise-of-research-into-cystic-fibrosis-gene
by JOE PALCA
January 02, 2013 3:04 PM
4 min 24 sec
·
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Download
The promise of genetic medicine is beginning to be fulfilled,
but it's been a long, hard slog.
Take the story of Kalydeco.
It's designed to treat people with a lung disease called cystic fibrosis. While
not quite a cure, the drug is extremely effective for some CF patients.
But the success of Kalydeco has been more than two decades in
the making.
A good starting point for the story is Aug. 24, 1989. That's the
day scientists from the U.S. and Canada announced the discovery of the gene
associated with the disease. It was the early days of gene hunting, and the CF
gene was a big prize.
CF is the most common genetic disease in Caucasians. When people
inherit a damaged form of the CF gene, a critical protein inside cells doesn't
work properly. As a result, sticky mucus builds up in a patient's lungs,
causing infections and making it hard to breathe.
The announcement was supposed to be made in conjunction with
three papers in
the Sept. 8 issue of Science, but a reporter for Reuters got hold of the story early. Science took the unusual
step of allowing the scientists to speak to the media before publication.
At the time, scientists predicted that a genetic test for CF was
just around the corner. But they also thought a drug to treat the disease was
in reach.
The first prediction turned out to be right. "But it wasn't
until 20 years later that we were able to find drugs that directly target the
underlying cause of cystic fibrosis," says Fred Van Goor, who led the team
at what is now Vertex Pharmaceuticals that
developed Kalydeco. "So it was a long time between the discovery of the
gene and the discovery of Kalyedco."
Kalydeco is one of the first drugs that is
effective at combating the root causes of a genetic disease.
It took awhile to find a drug that would help restore the
function of the protein the CF gene makes. "We tested over 600,000
chemicals in cells with the defective protein that causes cystic
fibrosis," says Van Goor.
One of those chemicals ultimately became a successful drug, but
it had to be modified so patients could take it by mouth, and so it would last
the right length of time in a patient's body.
From the start, Van Goor and his colleagues knew there was a
problem with Kalydeco: It only works on a small subset of people with CF. They
have to have a particular mutation in the CF gene, or the drug is of little
use.
But for people who do have that mutation, the drug works
remarkably well.
Emily Schaller was in one of the early studies of Kalydeco. As
part of the study, researchers first gave her a placebo, then switched her to
the active drug. She knew within days that something was different.
"I was with my brother in Florida, and we were walking down
the street, and I took a deep breath, and when I took a deep breath in and I
let it out, I didn't cough," says Schaller.
"But not only did I not cough, but I felt that my lungs were clear, and
that something huge had happened. It was just something I had never felt in my
life before."
Schaller isn't cured. She still has a damaged CF gene. The only
way to fix that would be gene therapy,
where a healthy form of the gene would supplant the damaged one. Although it
seems simple in theory, in practice gene therapy has been incredibly difficult
to accomplish.
Schaller isn't particularly bothered by that. "Everyone
talks about curing a disease — cure CF, cure these other diseases. [But]
Kalydeco controls CF at the basic defect, so I'm OK with the other 'c' word,
control, because I'm living it and I've never felt better in my life."
The time from gene discovery to successful drug may be
shortening, but there are only a handful of successful drugs so far, and for a
while at least, the appearance of new ones will be slow.
They're also likely to be expensive. Kalydeco costs in the
neighborhood of $300,000 per year.
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