PTC124

A

Allie

New member
It's a drug that if you have a stop mutation, usually the ones that end in x, that apparently will correct to problem and make a full length protien.

So, like Ry's W1282x. if it works, it'll be amazing.

<a target=new class=ftalternatingbarlinklarge href="http://ptcbio.com/big/pr122205.html#">http://ptcbio.com/big/pr122205.html#</a>
 
A

Allie

New member
It's a drug that if you have a stop mutation, usually the ones that end in x, that apparently will correct to problem and make a full length protien.

So, like Ry's W1282x. if it works, it'll be amazing.

<a target=new class=ftalternatingbarlinklarge href="http://ptcbio.com/big/pr122205.html#">http://ptcbio.com/big/pr122205.html#</a>
 
A

anonymous

New member
ok, so sorry to ask this...
I don't think I was ever told what my mutation is. How can I find that out? does it matter what mutation you have? I was DX'd in 1983 by my pediatric cf doc. I was with him till I was married, and now I have transitioned to a new one. Would that be somewhere in my records?

christian
 
A

anonymous

New member
ok, so sorry to ask this...
I don't think I was ever told what my mutation is. How can I find that out? does it matter what mutation you have? I was DX'd in 1983 by my pediatric cf doc. I was with him till I was married, and now I have transitioned to a new one. Would that be somewhere in my records?

christian
 
A

Allie

New member
If you've been genotyped you'd know....if not, they can do the Qwest test that covers all the mutations.

Ry was a w1282x and a delta F508, so it'd only cure one of his mutations I think....But it'd help, I guess.
 
A

Allie

New member
If you've been genotyped you'd know....if not, they can do the Qwest test that covers all the mutations.

Ry was a w1282x and a delta F508, so it'd only cure one of his mutations I think....But it'd help, I guess.
 
J

JazzysMom

New member
Christian.....Dr Walker would have it in your file. If they didnt have this info I am sure they would have told you.
 
J

JazzysMom

New member
Christian.....Dr Walker would have it in your file. If they didnt have this info I am sure they would have told you.
 
B

bblond

New member
While it is true that the drug would just fix one of the mutations, that is all that is needed to cure CF. If we just had one mutation then we would be a carrier and not have full blown CF.
 
B

bblond

New member
While it is true that the drug would just fix one of the mutations, that is all that is needed to cure CF. If we just had one mutation then we would be a carrier and not have full blown CF.
 
A

anonymous

New member
My son finished the trial on December 27th- he participated in Birmingham Alabama. It definitely showed promise. They are also getting good results in Israel. At our last appt there were two more people enrolled in Bham- may be more now. I dont think anymore of the US sites were up and going at that time- cant wait for this phase to be finished and on to the next. Susan
 
A

anonymous

New member
My son finished the trial on December 27th- he participated in Birmingham Alabama. It definitely showed promise. They are also getting good results in Israel. At our last appt there were two more people enrolled in Bham- may be more now. I dont think anymore of the US sites were up and going at that time- cant wait for this phase to be finished and on to the next. Susan
 
A

anonymous

New member
The drug would not fix all mutations- just stop mutations so if you dont have one of those this particular medicine would not work but I am hopeful that what they learn from this study will help all with CF. Susan
 
A

anonymous

New member
The drug would not fix all mutations- just stop mutations so if you dont have one of those this particular medicine would not work but I am hopeful that what they learn from this study will help all with CF. Susan
 
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