VX 770-will it help us?

[marcijo]

MissT-that is exactly the conclusion I came too by reading the articles-let's hope we are right!
<br />
<br />That is too funny about the R117H - my grandmpa was from Ireland so I am 1/4 Irish-I am pretty sure that is who I got the R117H from. My parents were never tested to see what gene they carry-otherwise I would know.
<br />
<br />My other gene, the DF508, is more common in Eastern European people-and my grandma (oon the other side) came from Holland. That's my theory from where I got the genes, anyways!
<br />
<br />I too am hoping that we can start the VX 770 right away......
<br />
<br />Sunflower-I know the DF508 is a class 2....I'm not sure about your other gene though. I have come across something in the past that lists the different classes and a few examples some genes that are in that class....I will see if I can find it.
<br />
<br />Edited to add:: I just found that your other gene is either a class 4 or class 5: These mild CFTR gene mutations are associated with pancreatic sufficiency and tend to be class 4 through 5 mutations: R117H, R334W, R347P, L206W, and P67L....taken from this article: <a target=_blank class=ftalternatingbarlinklarge href="http://jama.ama-assn.org/content/281/23/2217.full">http://jama.ama-assn.org/content/281/23/2217.full</a>

 

[marcijo]

HiVX 770-will it help us?

Here is an interesting website I found from Ambry Genetics:
<a target=_blank class=ftalternatingbarlinklarge href="http://www.ambrygen.com/Clinical_Diagnostic_and_Carrier_Testing/PDFforms/NACFC_2006.pdf">http://www.ambrygen.com/Clinic...DFforms/NACFC_2006.pdf</a>

 

[marcijo]

HiVX 770-will it help us?

Here is an interesting website I found from Ambry Genetics:
<a target=_blank class=ftalternatingbarlinklarge href="http://www.ambrygen.com/Clinical_Diagnostic_and_Carrier_Testing/PDFforms/NACFC_2006.pdf">http://www.ambrygen.com/Clinic...DFforms/NACFC_2006.pdf</a>

 

[marcijo]

HiVX 770-will it help us?

Here is an interesting website I found from Ambry Genetics:
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.ambrygen.com/Clinical_Diagnostic_and_Carrier_Testing/PDFforms/NACFC_2006.pdf">http://www.ambrygen.com/Clinic...DFforms/NACFC_2006.pdf</a>

 

[missT]

HiVX 770-will it help us?

Great article~I understand that R117H is a mild mutation but when they get into the 5T allele thing I really get lost. I have my panel screen from Ambry but beside knowing my mutations it is hard to make heads or tails of it. All I know is that I am soon to be 41 and I want to live!!! My lungs are in bad shape and I am waiting for a drug to stop the damage. I have 40% FEV1 so I am on the wire here...I need something that will just stop this disease from progressing...ugh!

 

[missT]

HiVX 770-will it help us?

Great article~I understand that R117H is a mild mutation but when they get into the 5T allele thing I really get lost. I have my panel screen from Ambry but beside knowing my mutations it is hard to make heads or tails of it. All I know is that I am soon to be 41 and I want to live!!! My lungs are in bad shape and I am waiting for a drug to stop the damage. I have 40% FEV1 so I am on the wire here...I need something that will just stop this disease from progressing...ugh!

 

[missT]

HiVX 770-will it help us?

Great article~I understand that R117H is a mild mutation but when they get into the 5T allele thing I really get lost. I have my panel screen from Ambry but beside knowing my mutations it is hard to make heads or tails of it. All I know is that I am soon to be 41 and I want to live!!! My lungs are in bad shape and I am waiting for a drug to stop the damage. I have 40% FEV1 so I am on the wire here...I need something that will just stop this disease from progressing...ugh!

 

[marcijo]

I asked about the 5T allele thing and my doctor said that when I was diagnosed (at age 21....almost 16 years ago) that they may not have tested for that then??? So all I know is that I have DF508 abd R117H.
I agree with you-I just want them to hurry up and get the meds available to us, as I'm sure everyone else does!! I asked my doctor about it...he seems to think that the hold up will be the insurance companies-which infuriates me to no end. If insurance companies won't cover the meds that could extend our lives-I will be beyond frustrated. But that's a while different topic!

 

[marcijo]

I asked about the 5T allele thing and my doctor said that when I was diagnosed (at age 21....almost 16 years ago) that they may not have tested for that then??? So all I know is that I have DF508 abd R117H.
I agree with you-I just want them to hurry up and get the meds available to us, as I'm sure everyone else does!! I asked my doctor about it...he seems to think that the hold up will be the insurance companies-which infuriates me to no end. If insurance companies won't cover the meds that could extend our lives-I will be beyond frustrated. But that's a while different topic!

 

[marcijo]

I asked about the 5T allele thing and my doctor said that when I was diagnosed (at age 21....almost 16 years ago) that they may not have tested for that then??? So all I know is that I have DF508 abd R117H.
<br />I agree with you-I just want them to hurry up and get the meds available to us, as I'm sure everyone else does!! I asked my doctor about it...he seems to think that the hold up will be the insurance companies-which infuriates me to no end. If insurance companies won't cover the meds that could extend our lives-I will be beyond frustrated. But that's a while different topic!

 

[petnurse]

I didn't read all of the posts (sorry), but I have talked to Dr Beall and the scientists for Vertex. They are very hopeful that between Ataluren, Vertex 770, and Vertex 809, that they will cover all mutations, as they are generally categorized under three functions. It would obviously be used off label. If they tried to label it for each mutation while in FDA approval, it would fail.

 

[petnurse]

I didn't read all of the posts (sorry), but I have talked to Dr Beall and the scientists for Vertex. They are very hopeful that between Ataluren, Vertex 770, and Vertex 809, that they will cover all mutations, as they are generally categorized under three functions. It would obviously be used off label. If they tried to label it for each mutation while in FDA approval, it would fail.

 

[petnurse]

I didn't read all of the posts (sorry), but I have talked to Dr Beall and the scientists for Vertex. They are very hopeful that between Ataluren, Vertex 770, and Vertex 809, that they will cover all mutations, as they are generally categorized under three functions. It would obviously be used off label. If they tried to label it for each mutation while in FDA approval, it would fail.

 

[sunflower]

Hi Marcjio,

It was very good of you to go through that trouble in finding the list for me I had it but, cannot find it.

In Ireland (I come from) 1-4 CF people have DF508 and P67L is found in people with Scottish ancestry.

Thank you so much!,

Sunflower

 

[sunflower]

Hi Marcjio,

It was very good of you to go through that trouble in finding the list for me I had it but, cannot find it.

In Ireland (I come from) 1-4 CF people have DF508 and P67L is found in people with Scottish ancestry.

Thank you so much!,

Sunflower

 

[sunflower]

Hi Marcjio,
<br />
<br />It was very good of you to go through that trouble in finding the list for me I had it but, cannot find it.
<br />
<br />In Ireland (I come from) 1-4 CF people have DF508 and P67L is found in people with Scottish ancestry.
<br />
<br />Thank you so much!,
<br />
<br />Sunflower

 

[jmiller]

I have traded emails with Dr. Preston Campbell and it sounds like many of the most common mutations will be further evaluated as part of an initiative called CFTR2 - this is an extension of the original CFTR project. Within this project, they will be examining mutations and classifying them according to their function (rather than by the original classification system (I-V). Vertex is supporting this effort as well and VX-770 will be tested on many of these mutations to determine which mutations will be helped (to eventually aid in drug labeling - from my understanding). I believe the tests are all done in the lab (not on humans) and the results of this study will be available later this year -- and at that point we will know which of us will be helped! There are so many questions lingering so it is not clear which mutations/classes will be helped at this point... but I would much rather have a MAYBE than a NO! <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[jmiller]

I have traded emails with Dr. Preston Campbell and it sounds like many of the most common mutations will be further evaluated as part of an initiative called CFTR2 - this is an extension of the original CFTR project. Within this project, they will be examining mutations and classifying them according to their function (rather than by the original classification system (I-V). Vertex is supporting this effort as well and VX-770 will be tested on many of these mutations to determine which mutations will be helped (to eventually aid in drug labeling - from my understanding). I believe the tests are all done in the lab (not on humans) and the results of this study will be available later this year -- and at that point we will know which of us will be helped! There are so many questions lingering so it is not clear which mutations/classes will be helped at this point... but I would much rather have a MAYBE than a NO! <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[jmiller]

I have traded emails with Dr. Preston Campbell and it sounds like many of the most common mutations will be further evaluated as part of an initiative called CFTR2 - this is an extension of the original CFTR project. Within this project, they will be examining mutations and classifying them according to their function (rather than by the original classification system (I-V). Vertex is supporting this effort as well and VX-770 will be tested on many of these mutations to determine which mutations will be helped (to eventually aid in drug labeling - from my understanding). I believe the tests are all done in the lab (not on humans) and the results of this study will be available later this year -- and at that point we will know which of us will be helped! There are so many questions lingering so it is not clear which mutations/classes will be helped at this point... but I would much rather have a MAYBE than a NO! <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[Kristen]

Thanks for starting this thread, missT <img src="i/expressions/face-icon-small-smile.gif" border="0"> This question has been burning a hole in my brain, but I've been too shy to start a thread on here!

The news sounds very positive, and it makes sense. If "they" didn't think it would work for us, wouldn't they be looking for more drugs? I am curious to see how insurance will respond to using it off-label.

Interesting point about being Irish - I am 75% Irish!