Gene Therapy Trials

Been thinking a lot about Jess today, and the truth is, I can't really comprehend what CF is like for someone like Jess because CF is a completely different beast for me; it doesn't really impact on me that much. Sure, I take the same tablets, nebulisers, IVs, and do a small amount of physio and exercise... but CF doesn't really restrict me in the way that it does someone like Jess. While I was getting drunk, popping god knows what, and generally having a carefree time at university, Jess was on the transplant list and her life was very much on hold. It's taken me a long time to actually connect with the CF community, I think a lot of this is down to fear of what happens to others happening to me, I've been dimly aware of the more severe aspects of CF though my two stays in hospital when I was in my twenties; I met other people with CF who were having a much worse time of it than me and to be honest it scared the hell out of me; maybe because of that I never really looked at it in focus, I always kind of kept it at arms length. It's only in the last couple of years that I've begun to find some kind of acceptance and begun to seek more knowledge about CF and what it is, and how it affects others as well as myself. And what have I discovered? Well, it's tough, and the people that have CF are bloody tough. And an inspiration. RIP Jess, you are braver than I will ever be.

On a more positive note -because hopefully Gene Therapy can one day prevent the severe lung damage like what Jess has suffered- this VX-770 trial that I've just missed out on has opened up something of a rabbit hole for me which is going to take a while for me to sift through and figure out. I've just had a quick scoot around to see what's happening with gene therapy trials. I still don't understand how the CFTR works, but when I do I'll let you know...

VX-770
VX-770 is a drug being tested by Vertex Pharmaceuticals in people with cystic fibrosis who have at least one copy of the G551D mutation. The drug may actually be able to target the defect in the CFTR gene and restore its ability to open up chloride channels, thus allowing salt to flow in and out of the cells properly. Unlike gene therapy, VX-770 would not replace the defective gene. Rather, if successful, VX-770 would repair the problem in the existing gene. Patients who took the drug showed significant improvement in several key CF measures, including lung function, nasal potential difference measurements, and sweat chloride levels. The findings suggest that VX-770 improves function of the faulty CFTR protein. This is the first time that any potential therapy has improved the abnormal sweat chloride (salt) levels in a person with CF. Excessive sweat chloride is a key clinical indicator of cystic fibrosis.

VX-809
VX-809 is another drug being tested by Vertex Pharmaceuticals in people who have two copies of the ∆F508-CFTR mutation. It is similar to VX-770 in that it may be able to get salt flowing through the cells properly, but it works a little differently. If it works as researchers hope it will, VX-809 would open chloride channels by moving the CFTR protein to its proper place on the airway cell membrane.

Miglustat
Miglustat is a drug manufactured by Actelion Pharmaceuticals that is already in use to treat other conditions, but it is currently being studied for use in people with cystic fibrosis who have two copies of the ∆F508-CFTR mutation. The study is small scale -- consisting of only 15 participants -- but so far the results have been promising as Migulstat has been able to reverse the CFTR defect and restore normal activity to cells.

Ataluren
Ataluren, which was once called PTC124, is being studied by PTC Therapeutics as a possible cure for people with CF who have nonsense mutations. In nonsense mutations, a piece of “gibberish” code appears amidst the normal code in the CFTR gene. The nonsense code acts like a stop sign, preventing the cells from reading any code that occurs after it. Ataluren may be able to correct that problem by helping the cells to ignore the stop sign and keep reading the code that occurs after it, thus restoring normal function to the cells.

http://cysticfibrosis.about.com/od/cysticfibrosis101/f/cure.htm