New Study of Kalydeco and 809

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MCGrad2006

Guest
So I have a question. I spoke with my doctor about this drug trial (maybe a month ago, and also 3 months before that) and he told me I was NOT eligible. I have ONE Deltaf508 (and N1303K). In the piece I just read on the trials it said they were doing trial of people with 1 or 2 copies of deltaf508. Why would my doctor tell me I am not eligible? Does the second gene have to be a certain "class"? I would really like to educate myself more so that when I go to see him in June, I can argue my case. I really want to do some of these trials. I am 100% compliant and have participated in trials before, so in my defense (not to sound snobby) I would be a perfect candidate!

Also, if it is a certain class of mutations, how can I find out what class n1303K is? I know there was a website, but I can't seem to find it when I try to google it. Please help me! And I had also contacted another hospital in my area about a different trial a while back and they said they had a HUGE wait list, so I am assuming they were only taking their own patients...not to mention my doctor was like "well that trial isn't showing results like we hoped" almost trying to tell me I shouldn't never have even asked about it. I am really trying to advocate for myself here, and I feel like its not doing anything.
 
M

MCGrad2006

Guest
So I have a question. I spoke with my doctor about this drug trial (maybe a month ago, and also 3 months before that) and he told me I was NOT eligible. I have ONE Deltaf508 (and N1303K). In the piece I just read on the trials it said they were doing trial of people with 1 or 2 copies of deltaf508. Why would my doctor tell me I am not eligible? Does the second gene have to be a certain "class"? I would really like to educate myself more so that when I go to see him in June, I can argue my case. I really want to do some of these trials. I am 100% compliant and have participated in trials before, so in my defense (not to sound snobby) I would be a perfect candidate!

Also, if it is a certain class of mutations, how can I find out what class n1303K is? I know there was a website, but I can't seem to find it when I try to google it. Please help me! And I had also contacted another hospital in my area about a different trial a while back and they said they had a HUGE wait list, so I am assuming they were only taking their own patients...not to mention my doctor was like "well that trial isn't showing results like we hoped" almost trying to tell me I shouldn't never have even asked about it. I am really trying to advocate for myself here, and I feel like its not doing anything.
 
H

Havoc

New member
Here you go:

http://www.genet.sickkids.on.ca/MutationDetailPage.external?sp=554

Not too much information. N1303K is a class II iirc.
 
H

Havoc

New member
Here you go:

http://www.genet.sickkids.on.ca/MutationDetailPage.external?sp=554

Not too much information. N1303K is a class II iirc.
 
S

saveferris2009

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>MCGrad2006</b></i> So I have a question. I spoke with my doctor about this drug trial (maybe a month ago, and also 3 months before that) and he told me I was NOT eligible. I have ONE Deltaf508 (and N1303K). In the piece I just read on the trials it said they were doing trial of people with 1 or 2 copies of deltaf508. Why would my doctor tell me I am not eligible? </end quote>

Docs are often wrong, unfortunately.
Lots of people (not you) treat their docs like gods, as if whatever they say must be the truth. It's scary to think that one's doc doesn't know anything and everything, which is why I think many cling to what the physician says as gospel.
Just show your doc the press release by Vertex
 
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saveferris2009

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>MCGrad2006</b></i> So I have a question. I spoke with my doctor about this drug trial (maybe a month ago, and also 3 months before that) and he told me I was NOT eligible. I have ONE Deltaf508 (and N1303K). In the piece I just read on the trials it said they were doing trial of people with 1 or 2 copies of deltaf508. Why would my doctor tell me I am not eligible? </end quote>

Docs are often wrong, unfortunately.
Lots of people (not you) treat their docs like gods, as if whatever they say must be the truth. It's scary to think that one's doc doesn't know anything and everything, which is why I think many cling to what the physician says as gospel.
Just show your doc the press release by Vertex
 
H

hammerpocket

Guest
MCGrad2006, we have the same mutations: F508del and N1303K. I've seen at least two other people on the forum with the same combo.

According to the "CF GeneE" app, N1303K is a Class II Folding/Trafficking Defect, which "causes improper folding resulting in defective cellular processing and delivery of CFTR protein to the cell surface." So it's more of a quantity problem than a quality problem -- little to no CFTR at the cell surface. Same as F508del.
 
H

hammerpocket

Guest
MCGrad2006, we have the same mutations: F508del and N1303K. I've seen at least two other people on the forum with the same combo.

According to the "CF GeneE" app, N1303K is a Class II Folding/Trafficking Defect, which "causes improper folding resulting in defective cellular processing and delivery of CFTR protein to the cell surface." So it's more of a quantity problem than a quality problem -- little to no CFTR at the cell surface. Same as F508del.
 
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Gammaw

Super Moderator
My 7 year old is also dF508 and n1303k. I do understand that it is a class 2 (folding) mutation, but I have such a hard time finding anything that shows the different genotypes' classifications. I have gone to the genet.sick kids mutation detail pages, and it looks confusing to me - I see nothing that indicates class ii. Where do we find this information? I'm sorry to be so thick-headed about this! Thanks for your help!
 
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Gammaw

Super Moderator
My 7 year old is also dF508 and n1303k. I do understand that it is a class 2 (folding) mutation, but I have such a hard time finding anything that shows the different genotypes' classifications. I have gone to the genet.sick kids mutation detail pages, and it looks confusing to me - I see nothing that indicates class ii. Where do we find this information? I'm sorry to be so thick-headed about this! Thanks for your help!
 
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