NACFC Prep

Last year I attended the NACFC in Anaheim and blogged about my experiences there.  I've been reviewing what I learned and working on my plan of attack to get the answers I'm looking for this year.  Here is my first NACFC 2011 post if anyone else is interested in reviewing: http://luckycfmom.blogspot.com/2011/11/prelude-to-kiss.html 

As I prepare to attend the NACFC next month in Orlando, I'm thinking mostly about:

1) Combo Trials--I will be looking for details on how both VX/770-VX/809 and VX/770-VX661 are progressing.  I am also interested in seeing if they will be presenting a new 3 drug combination to start down the development pipeline.  Last year, it was revolutionary news that they had discovered 2 misfolding problems that needed correction for DF508.  In the lab, 3 drug combinations (2 correctors to treat each misfolding site + Kalydeco to open the CFTR channel once it reached the surface) worked REALLY WELL.  A combination like this would be a few years behind the combos currently in trials, but has the potential to achieve the magnitude of change for DF508 that Kalydeco has shown for gating and conductance mutations.  http://luckycfmom.blogspot.com/2012/02/genetic-origami.html

Also within the realm of combo trials, I am very curious how they plan to proceed in trials with heterozygotes.  Is there new "transcomplementation" data being presented this year?  http://luckycfmom.blogspot.com/2012/03/calling-all-heterozygotes.html  What about the "trial of 1" concept proposed earlier this year by Peter Mueller of Vertex?  http://iom.edu/~/media/Files/Activity%20Files/Research/GenomicBasedResearch/2012-MAR-21/3%20-%20Peter%20Mueller.pdf
Is this recently announced clinical trial a "trial in a box" as described by Mueller?  http://clinicaltrials.gov/ct2/show/NCT01685801?term=vx-770&rank=19

2) Kalydeco questions like: Will they be moving forward to see Kalydeco marketed to COPD patients? http://www.sciguru.com/newsitem/14332/cystic-fibrosis-drug-kalydeco-may-be-useful-treating-copd-smokers   If they open up the market to a large population like this, it could certainly affect the price of Kalydeco.  

What the hell is going on in Europe and other parts of the world in terms of access...or rather, lack of access?!?!  Everyone who read my last blog entry knows exactly how I feel about making Kalydeco available to those who need it. 

I want to take the opportunity to discuss the many off-label prescriptions (because of both age and mutation) have successfully been filled and are showing positive results.  Last year, everyone swore that we would be unable to get Kalydeco to Brady at age 4 1/2 and they were WRONG about that!  Being at the NACFC is going to enable me to sit down to coffee with Bob and give him the real scoop on what is really happening in our CF world.   Last year he called me his, "link" to patients and parents.  I honestly think that the CF community is more empowered and educated than ever before because we've come together to share like a family (and we have the internet!). We are able to learn about the latest research from the comfort of our own homes. I love to hear how many parents are educating their child's DOCTOR about the latest in CF research and newest information on their child's particular genetic code.  We have DEMANDED that our voices are heard, even when our own CF specialists might be hesitant.  I would love to hear more detail on the timeline they see to opening up the FDA approved label to include other mutations and/or children under 6. 

I have lots of other crazy question like: Could a pregnant woman take Kalydeco?  Could meconium ileus, pancreatic insufficiency, and other complications be prevented if the mother of a fetus with G551D(or other mutation positively affected by Kalydeco) began taking the drug during pregnancy and then the infant began therapy at birth?  Can you imagine??  What about how Kalydeco affects other organs besides the lungs?  I've seen Brady's serious sinus issues disappear and that was not a reported or tested clinical trial parameter. Theoretically, Kalydeco should be able to prevent deterioration of other organs such as the liver and pancreas.  Are clinics seeing this in practice?

I realize that there are no real answers to some of these questions, but I'm still pretty curious to sit down with some of these researchers and CFF execs and hash out the possibilities. 


3) Ataluren
Please.  What is the hold up with information regarding Ataluren??   Are they still planning on marketing Ataluren? I'd like to hear more detail about the side effects they recorded in the clinical trials.  I'm also very curious to hear if they have tested an Ataluren + Kalydeco combination.  This was a concept mentioned as a possiblity at last year's Conference.  If non-toxic in combination, Kalydeco might be able to provide those important sweat chloride changes that they didn't see with Ataluren alone.

These CFTR modifiers are game-changers, and I hope I can report some amazing, awesome news this year!  My husband Brock is attending the Conference with me this time, and we are a great team!  We plan to split up during some sessions so we don't miss any important talks taking place during the same time slot.  He is so excited to shake hands with Dr. Beall and the Vertex team.  Last year, I was afraid that my heart might explode with gratitude as I sat side by side with these brilliant researchers...and that was BEFORE BRADY EVEN GOT KALYDECO!  This year, the "thank you's" will mean even more!!  Stay tuned...these blog updates are about to get really GOOD!  Only 21 more days til Conference!  If YOU have a burning question about CFTR modifiers that I didn't mention, leave me a comment and I'll add it to the list!