I am adding this discussion for families that have deletions of exons 48-52. Or any families for which we would need Exon Skipping 53 (which is our case). Who else has this deletion or needs Exon Skipping 53?

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Replies to This Discussion

Hi Leslie,
My son has a deletion of 51. I was told that exon skipping won't help right now, but possibly in the future. I'm praying for utrophin upregulation.
Christine,

Skipping exon 50 will make an in-frame mutation for your son. Good new is that AVI Biopharma works on skipping 50, they received $2.4 M from Charley's Fund to go to clinical trials with that -- Charley also has a deletion of exon 51. They are using the best possible morpholino (PPMO) for skipping 50; this was proven effective on the heart as well as skeletal muscle in mice.

http://www.avibio.com/pr/pr354.php

Ofelia

christine good said:
Hi Leslie,
My son has a deletion of 51. I was told that exon skipping won't help right now, but possibly in the future. I'm praying for utrophin upregulation.
Hi Leslie,

Our son has a deletion of exons 45 - 52, so we are with you for exon 53.

Cheers
Hi

Mike has a deletion of 49-52. Currently he is 40 years oldand doing well. He walked until 17, had some arm strength until 25 yrs. Only uses BiPAP overrnight with limited need of daytime ventilation. He would need exon 53 skipped but don't know if it would help clinically.
HI Leslie,
Our son has a deletion of exons 48-52. He will be 7 in April. He has bee on deflazacort since August and is doing well.
Hi all
My son George, age 5, also has a deletion of 45 -52. I have been told that if the research in the UK goes well. (Prof Muntoni et al, currently just started phase II trials on skipping 51) then 53 could be the next one they will try..... fingers, toes, everything crossed!

Rebecca
x

Dawn said:
Hi Leslie,

Our son has a deletion of exons 45 - 52, so we are with you for exon 53.

Cheers
MY SON HAS THE DELETION IN 46-47 AND .SKIPPING OF 45 WILL BE THE RIGHT CHOICE FOR HIM.BUT I HAVE HEARD NOTHING IN THIS REGARDS .I WILL KEEP MY FINGERS CROSSED AND PRAY .
My son has a deletion of 48-52 so he also would need 53.

christine good said:
Hi Leslie,
My son has a deletion of 51. I was told that exon skipping won't help right now, but possibly in the future. I'm praying for utrophin upregulation.
Hi,
my son has a deletion of exon 49 to 52. He also need exon 53 skipping....
Hi,

My name is Sam Ibrahim. We live in Irving, TX. My nephew is 10 years old. He has a deletion 50-52 so he needs exon skipping 53.
yes my son pouya has 51 exon deletion.is there any drug in research for this exon skipping
regards


aghazadeh
I guess I'm a little late in responding to this one, Xavier, age 8, has a deletion of 48-52 also, so we would need skipping of 53 also. Just out of curiosity, howis your son with the same deletion doing? Xavier seems to be a bit of an outlier as far as how well he is doing. We have wondered if it has to do with where his deletion is at, but have not really been around anyone else with the exact same deletion.
I wish you all a happy new year and hope that 2010 is a great year for any and all Duchenne boys, a miracle for one will start the process for all. We have good friends who's son is on PTC 124, I cried that it couldn't help my boy, and then I cried harder that it could help him and we could see a miracle happen in our time.

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