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I have a question??

Can anyone tell me what treatment is on the horizon for in-frame deletions. I know exon skipping is only for out of frame deletions to change from DMD to BMD. My newphew has an in-frame deletion which should result in BMD but he has Duchenne. I was just wondering if anyone may have some answers or information??

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Permalink Reply by Lori Ware on March 16, 2009 at 10:49am

Utrophin will work for in frame or out of frame and is not mutation dependant such as PTC124. I think this will be available for my son well before exon skipping will be as we have to have a cocktail for exon skipping, not just the morpholino for one exon. At conference last summer, they said trials will begin in 12-18 mths...that would be this summer to end of the year. I really look for it somewhere 1st quarter 2010...keeping my fingers crossed!

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Permalink Reply by Keith Van Houten on March 16, 2009 at 11:01am

Take a look at this document on the main site. It's pretty good. Exon skipping is the only approach that theoretically wouldn't apply, as far as I know. I have the greatest hope for utrophin upregulation, myself.

There's a new group that got posted last week for in-frame deletions. Check it out. My son is in the same situation as your nephew.

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Permalink Reply by R Patel on March 16, 2009 at 11:03am

Biomarin and Summit PLC have delayed the Utrophin trials.
They don't know how long the pre-clincal work is going to take, hopefully not too long. This would help all the boys

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Permalink Reply by Lori Ware on March 16, 2009 at 11:09am

UGH.....

R Patel said:

Biomarin and Summit PLC have delayed the Utrophin trials.
They don't know how long the pre-clincal work is going to take, hopefully not too long. This would help all the boys

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Permalink Reply by Lori Ware on March 16, 2009 at 1:46pm

Is Jerry Browns protein Byglcan?

Roxanne said:

I really had my hopes high on Biomarin beginning trial "early" this year. Now they are not finished their pre-clincial work. So who knows when/if they will start trials. Hopefully everything will work out the way they want them too. I'm not as hopeful as I had been in trials starting this year. Jerry Fallon @ Brown's University is also working on a protein(not sure the name) to upregulate utrophin. Does anyone know of his progess and when/if (estimate) of how soon trials will begin?