R1162X and PTC124

[henryb]

Hi to the forum!
My two daughters are having the R1162X mutation together with the classical DeltaF508 mutation.
I have been following all the research made with PTC124 (only for premature or so-called nonsense mutations!) for the last few years.
After reading a lot of medical and scientific news I am somenow getting hints that this new medication for some reason does not really help with the nonsense mutation R1162X.
Can anyone give me more information on this?
Any answer would be much appreciated.
Thanks,
Henry

 

[henryb]

Hi to the forum!
My two daughters are having the R1162X mutation together with the classical DeltaF508 mutation.
I have been following all the research made with PTC124 (only for premature or so-called nonsense mutations!) for the last few years.
After reading a lot of medical and scientific news I am somenow getting hints that this new medication for some reason does not really help with the nonsense mutation R1162X.
Can anyone give me more information on this?
Any answer would be much appreciated.
Thanks,
Henry

 

[henryb]

Hi to the forum!
My two daughters are having the R1162X mutation together with the classical DeltaF508 mutation.
I have been following all the research made with PTC124 (only for premature or so-called nonsense mutations!) for the last few years.
After reading a lot of medical and scientific news I am somenow getting hints that this new medication for some reason does not really help with the nonsense mutation R1162X.
Can anyone give me more information on this?
Any answer would be much appreciated.
Thanks,
Henry

 

[mommy2cass]

Hi Henry, I don't really have the info that you are looking for but I am also interested in hearing what people have to say about your question. Our daughter has the same mutations as your daughters.
Thanks,

 

[mommy2cass]

Hi Henry, I don't really have the info that you are looking for but I am also interested in hearing what people have to say about your question. Our daughter has the same mutations as your daughters.
Thanks,

 

[mommy2cass]

Hi Henry, I don't really have the info that you are looking for but I am also interested in hearing what people have to say about your question. Our daughter has the same mutations as your daughters.
Thanks,

 

[mommy2cass]

Hi Henry, It has been a while. I had told you at my daughters next appt. that I would talk to her Dr. about the PTC124 just a little bit. He did tell me that with the mutation ending in an x that it is a nonsense mutation and that the therapy is encouraging for that mutation as well as other nonsense mutations as well. Thats all I have hope it helps.

Kelly

 

[mommy2cass]

Hi Henry, It has been a while. I had told you at my daughters next appt. that I would talk to her Dr. about the PTC124 just a little bit. He did tell me that with the mutation ending in an x that it is a nonsense mutation and that the therapy is encouraging for that mutation as well as other nonsense mutations as well. Thats all I have hope it helps.

Kelly

 

[mommy2cass]

Hi Henry, It has been a while. I had told you at my daughters next appt. that I would talk to her Dr. about the PTC124 just a little bit. He did tell me that with the mutation ending in an x that it is a nonsense mutation and that the therapy is encouraging for that mutation as well as other nonsense mutations as well. Thats all I have hope it helps.

Kelly

 

[mommy2cass]

Hi Henry, It has been a while. I had told you at my daughters next appt. that I would talk to her Dr. about the PTC124 just a little bit. He did tell me that with the mutation ending in an x that it is a nonsense mutation and that the therapy is encouraging for that mutation as well as other nonsense mutations as well. Thats all I have hope it helps.

Kelly

 

[mommy2cass]

Hi Henry, It has been a while. I had told you at my daughters next appt. that I would talk to her Dr. about the PTC124 just a little bit. He did tell me that with the mutation ending in an x that it is a nonsense mutation and that the therapy is encouraging for that mutation as well as other nonsense mutations as well. Thats all I have hope it helps.

Kelly

 

[mommy2cass]

Hi Henry, It has been a while. I had told you at my daughters next appt. that I would talk to her Dr. about the PTC124 just a little bit. He did tell me that with the mutation ending in an x that it is a nonsense mutation and that the therapy is encouraging for that mutation as well as other nonsense mutations as well. Thats all I have hope it helps.

Kelly

 

[hardclubber]

Hi Henry, I also follow this potential wonderdrug for years. I read there were differences between the US and the Isrealian results. We all know that the Israelian/Jewish have a) extremely high number of patients with nonsense mutations + a specif mutation not common in caucasian race. They said they would do further research to see if the difference had to do with differences in drug regimes. I also read that 2007 article on Gentamycin which showed that read through with Jewish X mutation was so much higher than other X mutations. So maybe this to do with that.
I also noticed that on a number of variables both scored positive changes. So there is always hope.
I really wonder where you get that hints from..eg what articles you find suggesting them. Would you be willing to share?

Thanks!
Jeanpaul

 

[hardclubber]

Hi Henry, I also follow this potential wonderdrug for years. I read there were differences between the US and the Isrealian results. We all know that the Israelian/Jewish have a) extremely high number of patients with nonsense mutations + a specif mutation not common in caucasian race. They said they would do further research to see if the difference had to do with differences in drug regimes. I also read that 2007 article on Gentamycin which showed that read through with Jewish X mutation was so much higher than other X mutations. So maybe this to do with that.
I also noticed that on a number of variables both scored positive changes. So there is always hope.
I really wonder where you get that hints from..eg what articles you find suggesting them. Would you be willing to share?

Thanks!
Jeanpaul

 

[hardclubber]

Hi Henry, I also follow this potential wonderdrug for years. I read there were differences between the US and the Isrealian results. We all know that the Israelian/Jewish have a) extremely high number of patients with nonsense mutations + a specif mutation not common in caucasian race. They said they would do further research to see if the difference had to do with differences in drug regimes. I also read that 2007 article on Gentamycin which showed that read through with Jewish X mutation was so much higher than other X mutations. So maybe this to do with that.
I also noticed that on a number of variables both scored positive changes. So there is always hope.
I really wonder where you get that hints from..eg what articles you find suggesting them. Would you be willing to share?

Thanks!
Jeanpaul

 

[hardclubber]

Hi Henry, I also follow this potential wonderdrug for years. I read there were differences between the US and the Isrealian results. We all know that the Israelian/Jewish have a) extremely high number of patients with nonsense mutations + a specif mutation not common in caucasian race. They said they would do further research to see if the difference had to do with differences in drug regimes. I also read that 2007 article on Gentamycin which showed that read through with Jewish X mutation was so much higher than other X mutations. So maybe this to do with that.
I also noticed that on a number of variables both scored positive changes. So there is always hope.
I really wonder where you get that hints from..eg what articles you find suggesting them. Would you be willing to share?

Thanks!
Jeanpaul

 

[hardclubber]

Hi Henry, I also follow this potential wonderdrug for years. I read there were differences between the US and the Isrealian results. We all know that the Israelian/Jewish have a) extremely high number of patients with nonsense mutations + a specif mutation not common in caucasian race. They said they would do further research to see if the difference had to do with differences in drug regimes. I also read that 2007 article on Gentamycin which showed that read through with Jewish X mutation was so much higher than other X mutations. So maybe this to do with that.
I also noticed that on a number of variables both scored positive changes. So there is always hope.
I really wonder where you get that hints from..eg what articles you find suggesting them. Would you be willing to share?

Thanks!
Jeanpaul

 

[hardclubber]

Hi Henry, I also follow this potential wonderdrug for years. I read there were differences between the US and the Isrealian results. We all know that the Israelian/Jewish have a) extremely high number of patients with nonsense mutations + a specif mutation not common in caucasian race. They said they would do further research to see if the difference had to do with differences in drug regimes. I also read that 2007 article on Gentamycin which showed that read through with Jewish X mutation was so much higher than other X mutations. So maybe this to do with that.
I also noticed that on a number of variables both scored positive changes. So there is always hope.
I really wonder where you get that hints from..eg what articles you find suggesting them. Would you be willing to share?

Thanks!
Jeanpaul

 

[zoeg]

My daughter has Y1092x and delta F508 so we have been anxiously awaiting some information on PTC124 as well. I have never heard of anyone else having this combo! I hope for the people with a nonsense and the delta F508 this drug will work for. I think that seems like so many people....

Zoe, mom to Kate wCF

 

[zoeg]

My daughter has Y1092x and delta F508 so we have been anxiously awaiting some information on PTC124 as well. I have never heard of anyone else having this combo! I hope for the people with a nonsense and the delta F508 this drug will work for. I think that seems like so many people....

Zoe, mom to Kate wCF