Exon skipping 53
Hi,
Has any one heard about recruitment for exon skipping 53?
The below link mentions about it.
http://www.dmdregistry.org/recruitment.jsp
Thanks,
Amrit
Has any one heard about recruitment for exon skipping 53?
The below link mentions about it.
http://www.dmdregistry.org/recruitment.jsp
Thanks,
Amrit
Replies to This Discussion
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Permalink Reply by cheryl cliff on
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Sounds like the recruitment is a form of "prequalifying". But FANTASTIC news for those needing to skip 53 and wonderful to the ears of us who won't benefit from it. Thank you for sending this one to us. I'd enroll if I lived in the UK!!
cheryl
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Permalink Reply by Kelvinsmom - Michelle on
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My son needs skipping of 53. Dr. Wong told us that it was already created along with the few others that they are moving towards doing (she told us last year). I am staying positive, as Kelvin and our friend Diego needs the same exon skipping of 53. We know it will still be years, but we are hopeful. The reports from the company list the ones that will come along and 53 is one of them on the list. Michelle
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Permalink Reply by Char Burke on
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Amrit - Thanks for the notification. I wasn't aware that the recruitment was for 51 and 53. However, correct me if I am wrong - that when there is a recruitment - that the country that it takes place in - that the candidates are usually limited to the country that they are in. So, unless you live in UK, you are screwed.
Help me out with another item. If I have a son with duplication from 54-57 - then we'd have to skip 53-58. Is that correct? Then, what is the exact % of dystrophin that makes one able to function at a higher level? I think it is 10%?
Char Burke
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Char, I don't know about duplications, but here is what AVI is working with, I believe, somewhat in the order below with more frequent deletions. These are the only ones that they have listed at the current time, at least that I can find. I believe they are working with or will soon with 50, 51, 44, and 53. That is all I could find for the current or future at this time (at least through news releases, recruiments, etc.). 53 is only listed in recruitments at this time. Hopefully, the legal process will come about that not every exon skipping will need tested individually. Only time will tell. Michelle
The relationship between exon skipping and the DMD deletions is shown below for some of the more frequent deletions in DMD
Exon skipped Repaired Deletions
51 45-50, 47-50, 48-50, 49-50, 50, 52
50 51, 51-53, 51-55
45 12-44, 18-44, 44, 46-47, 46-48, 46-49, 46-51, 46-53, 46-55
53 10-52, 45-52, 46-52, 47-52, 48-52, 49-52, 50-52, 52
44 10-43, 19-43, 30-43, 35-43, 36-43, 40-43, 42-43, 45, 45-54
8 4-7, 5-7, 6-7, 3-7,
55 47-54, 48-54, 49-54, 50-54, 52-54, 54, 56, 56-62
7 2-6,8-11, 8-17, 8-43, 8-45
52 53, 53-55, 53-57, 53-59, 53-60
17 12-16, 18, 18-20, 18-22, 18-25, 18-27, 18-29, 18-33, 18-36, 18-38, 18-41, 18-44
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Permalink Reply by JoAnne Powell on
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Is anything being done for exon 52? I see articles and news releases for 51 and 53 everywhere? Can anyone direct me in the direction of web sites of who is doing these????
Thanks!
Landon's Mom - JoAnne
Kelvinsmom - Michelle said:Char, I don't know about duplications, but here is what AVI is working with, I believe, somewhat in the order below with more frequent deletions. These are the only ones that they have listed at the current time, at least that I can find. I believe they are working with or will soon with 50, 51, 44, and 53. That is all I could find for the current or future at this time (at least through news releases, recruiments, etc.). 53 is only listed in recruitments at this time. Hopefully, the legal process will come about that not every exon skipping will need tested individually. Only time will tell. Michelle
The relationship between exon skipping and the DMD deletions is shown below for some of the more frequent deletions in DMD
Exon skipped Repaired Deletions
51 45-50, 47-50, 48-50, 49-50, 50, 52
50 51, 51-53, 51-55
45 12-44, 18-44, 44, 46-47, 46-48, 46-49, 46-51, 46-53, 46-55
53 10-52, 45-52, 46-52, 47-52, 48-52, 49-52, 50-52, 52
44 10-43, 19-43, 30-43, 35-43, 36-43, 40-43, 42-43, 45, 45-54
8 4-7, 5-7, 6-7, 3-7,
55 47-54, 48-54, 49-54, 50-54, 52-54, 54, 56, 56-62
7 2-6,8-11, 8-17, 8-43, 8-45
52 53, 53-55, 53-57, 53-59, 53-60
17 12-16, 18, 18-20, 18-22, 18-25, 18-27, 18-29, 18-33, 18-36, 18-38, 18-41, 18-44
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If your son has exon 52 deleted, he needs skipping of exon 51 as indicated in the chart above, so he is in line for current testing. Michelle
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This is what I am confused about...I thought if 52 was the one "deleted" or missing, they woudl skip from 51 to 53, hence skipping over 52. You and one other person has both told me they would skip 51 but if they do that, wouldn't that make it go to 52 which is not there??? Sorry to be a little "dumb" about this...I guess I am a little confused with it. Thank you so much for helping me get a grasp on this...Take care
JoAnne
Kelvinsmom - Michelle said:If your son has exon 52 deleted, he needs skipping of exon 51 as indicated in the chart above, so he is in line for current testing. Michelle
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Permalink Reply by Ofelia Marin on
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This explains how exon skipping works: http://www.actionduchenne.org/duchennepedia/article/15/exon-skipping
JoAnne Hathcoat said:This is what I am confused about...I thought if 52 was the one "deleted" or missing, they woudl skip from 51 to 53, hence skipping over 52. You and one other person has both told me they would skip 51 but if they do that, wouldn't that make it go to 52 which is not there??? Sorry to be a little "dumb" about this...I guess I am a little confused with it. Thank you so much for helping me get a grasp on this...Take care
JoAnne
Kelvinsmom - Michelle said:If your son has exon 52 deleted, he needs skipping of exon 51 as indicated in the chart above, so he is in line for current testing. Michelle
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Permalink Reply by MicahsDaddy on
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52 isn't there because it is deleted. So, by skipping 51, the connection of 50 fits into 53.
JoAnne Hathcoat said:This is what I am confused about...I thought if 52 was the one "deleted" or missing, they woudl skip from 51 to 53, hence skipping over 52. You and one other person has both told me they would skip 51 but if they do that, wouldn't that make it go to 52 which is not there??? Sorry to be a little "dumb" about this...I guess I am a little confused with it. Thank you so much for helping me get a grasp on this...Take care
JoAnne
Kelvinsmom - Michelle said:If your son has exon 52 deleted, he needs skipping of exon 51 as indicated in the chart above, so he is in line for current testing. Michelle
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Permalink Reply by Tulika on
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Amrit,
ICE project has called out the saturation of studies with 51 and their intent to work with 53 or 46.
ICE report was published on PPMD findings and their next meeting is on 23 January 2010. My kid needs to skip 51 but I am personally very intrested in the ICE approach since this one promises the reduce the long term side effects along with evaluatiing any off site impact by a exon skipping drug.
-Tulika
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