Interesting info about VX770

K

kyeev

New member
Good news I think for those of us with gating mutations other than G551D.
http://www.youtube.com/watch?v=xguSP9-HbSw
http://www.youtube.com/watch?v=YkDUbvFpNsA
Basically, saying because most other gating mutations are so rare, it won't be possible to carry out clinical trials, and that the FDA will have to allow use of the drug on the basis of in vitro cell work i.e. data found in the lab to show VX770 works on other class III mutations.
Meaning that it will be a case of suck it and see! i.e. try it for a few weeks, if there are positive clinical changes, then continue...
 
K

kyeev

New member
Good news I think for those of us with gating mutations other than G551D.
http://www.youtube.com/watch?v=xguSP9-HbSw
http://www.youtube.com/watch?v=YkDUbvFpNsA
Basically, saying because most other gating mutations are so rare, it won't be possible to carry out clinical trials, and that the FDA will have to allow use of the drug on the basis of in vitro cell work i.e. data found in the lab to show VX770 works on other class III mutations.
Meaning that it will be a case of suck it and see! i.e. try it for a few weeks, if there are positive clinical changes, then continue...
 
S

SarahProcter

Guest
For people with rare mutations, is there a best way to go about trying to find out what class one's mutation is, assuming that one's doctor does not know and cannot provide guidance?
 
S

SarahProcter

Guest
For people with rare mutations, is there a best way to go about trying to find out what class one's mutation is, assuming that one's doctor does not know and cannot provide guidance?
 
S

saveferris2009

New member
I would ask Steve from Ambry Genetics on this website or maybe email Sick Kids in Canada who are in the process of creating a big CF mutation database
 
S

saveferris2009

New member
I would ask Steve from Ambry Genetics on this website or maybe email Sick Kids in Canada who are in the process of creating a big CF mutation database
 
M

Mommafirst

Guest
Unfortunately, there isn't a clear way to know. My daughter's second mutation is very rare. Right now Ambry has 7 or 8 other people with it in their database. No one I can speak to can accurately tell me if it is a gating defect or some other type. I do believe that John's Hopkins is working on putting this information into a new database CFTR2....but they are working on the more known and prevalent mutations first and will eventually get to the lesser known and rare ones eventually.
 
M

Mommafirst

Guest
Unfortunately, there isn't a clear way to know. My daughter's second mutation is very rare. Right now Ambry has 7 or 8 other people with it in their database. No one I can speak to can accurately tell me if it is a gating defect or some other type. I do believe that John's Hopkins is working on putting this information into a new database CFTR2....but they are working on the more known and prevalent mutations first and will eventually get to the lesser known and rare ones eventually.
 
C

Charliton

Guest
In Europe they are thinking about testing VX-770 in these other mutations: G178R, G551S, G1349D, S1255P, G1244E, G970R, S549N, S549R, S1251N. I hope this helps.

http://www.sefq.es/ECFSPacientestratablesconVertex770.pdf
 
C

Charliton

Guest
In Europe they are thinking about testing VX-770 in these other mutations: G178R, G551S, G1349D, S1255P, G1244E, G970R, S549N, S549R, S1251N. I hope this helps.

http://www.sefq.es/ECFSPacientestratablesconVertex770.pdf
 
S

SarahProcter

Guest
Last I asked, Ambry had seen my daughter's mutation all of once <img src="i/expressions/face-icon-small-sad.gif" border="0"> It's rare enough that I think we'll just have to try Kalydeco in order to determine whether it would be helpful or not. But good luck to us getting insurance approval, if they're going to restrict its use to people with gating mutations. Hopefully they'll let people just try it and see...
 
S

SarahProcter

Guest
Last I asked, Ambry had seen my daughter's mutation all of once <img src="i/expressions/face-icon-small-sad.gif" border="0"> It's rare enough that I think we'll just have to try Kalydeco in order to determine whether it would be helpful or not. But good luck to us getting insurance approval, if they're going to restrict its use to people with gating mutations. Hopefully they'll let people just try it and see...
 
S

saveferris2009

New member
Sarah don't let insurance hold you back - people are assuming insurance will be a buggar but I know a handful of people whose insurance let Kaly slide right through.

Don't let assumptions hold you back!
 
S

saveferris2009

New member
Sarah don't let insurance hold you back - people are assuming insurance will be a buggar but I know a handful of people whose insurance let Kaly slide right through.

Don't let assumptions hold you back!
 
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