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Exon Deletion 3-7

Connect with other families with exon deletion 3-7.

Website: http://www.frontstep.us/Delong/mda.htm
Location: Derry, New Hampshire (You are Welcome to Visit)
Members: 28
Latest Activity: Sep 13

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Daughters of Carrier Moms

Started by Colin McKenzie. Last reply by Colin McKenzie Jun 13, 2011. 2 Replies

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Comment by Praveen on September 13, 2018 at 11:27am

All - There is a facebook group for Exon 3-7 deletion. Please join this group.

https://www.facebook.com/groups/120669448584316/

Comment by Debbie Schneider on July 6, 2014 at 7:09am

Hi, did anyone attend the latest Conference in this group?  Is there anything of note for our deletion?  Tried to live stream it but wouldn't work down here in little ole NZ.  See this group not active for quite some time.  My son is 11 in October and seems to be remaining stable since starting the DFZ, has put on a bit of weight but things seem okay.  Has had a recent operation to remove a random bone growing out of the top of this middle left toe, plus had his ingrown toenails removed at the same time and things healing up well.  We got funding to get Dylan a Segway back in January and life so much easier for him getting around his school and on trips to the beach. Anyway, just wondering if anyone else has a son around this age group in this deletion?  Take care and kind regards.  Debbie

Comment by Eileen DeLong on November 13, 2012 at 4:16pm

AVI is now Sarepta. They did not fund it but DMD is one of the main disorders they are trying to develop treaments for.

Comment by Tagni McRae on November 13, 2012 at 4:02pm

Did the paper say they funded it? 

 

Comment by Eileen DeLong on November 13, 2012 at 4:00pm

I just noticed that one of the author of this paper is Ryszard Kole from AVI Biopharma, Bothell, Washington, USA

I think that is a good sign! Going to there site now to see what they are up too.

Comment by Tagni McRae on November 13, 2012 at 2:19pm

Thanks so much for keeping us updated.  So nice to hear skipping of exon 8 even discussed!

 

Comment by Eileen DeLong on November 13, 2012 at 2:16pm

Thanks Lisa for highlighting the most important aspect. I don't know how to get them working on it but I have a feeling Dr.Wong and Dr.Wilton are both on it. I am hoping that if the FDA does change the way the approval gets done for these targeted treatments and that after the treatment for exon 51 (Sarepta Therapeutics' (SRPT) eteplirsen) get approval it should not be long after. Dr.Wong just keeps saying keep them strong so it seems like she has a lot of hope for the near future.  

Comment by Tagni McRae on November 13, 2012 at 1:11pm

Thanks for posting this.  My son has a deletion of 6, 7.  I hope this results in some further research on skipping #8 and that Dr. Wong is involved in future studies.  We just need to keep the dollars coming in from PPMD and the federal government!

Comment by Lisa Groeger on November 13, 2012 at 11:50am

Thanks Eileen!  The following is the most important aspect to this study..So how do we get Sarepta and/or Glaxo to start working on it?

Clinical application of exon 8 skipping should not be delayed because of the relatively small proportion of patients with DMD who are likely to benefit, but rather, exon 8 should be considered a priority, since deletions in this region of the dystrophin gene have shown a propensity for inconsistent correlation between the genotype and phenotype, and therefore may prove highly amenable to exon skipping therapy. Since exon 8 (and 9) skipping has been reported to occur naturally22,23 this region could be highly amenable to splice intervention. Furthermore, the presence of low levels of endogenous high molecular weight dystrophin, despite the frame-shifting deletions of up to 300 kB, should preclude an immune response to the oligomer-induced dystrophin.

Comment by Eileen DeLong on November 13, 2012 at 10:04am

http://www.nature.com/mtna/journal/v1/n10/full/mtna201240a.html

 

Hi everyone,

Here is a link to an exciting study report! I think some of you see Dr.Wong in Cincy. A couple of years ago she took some skin biopsies from of 3-7 boys and this is the result findings! It is good news!

 

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