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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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!
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.
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
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
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?

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