Are their any open clinical trials for deletion 22-41?

Views: 674

Reply to This

Replies to This Discussion

"Something like ACE-031, which turns on muscle growth may reduce the fibrosis, but we just won't know until it's tested in humans."

 

If the testing ever resumes!  It seems like ages that we've been on hold.   grrr

What's the problem with the slow progress? Do they have enrollment problems? What happened?
the study is on hold while they investigate nose bleeds.
You mean ACE-031 study on hold? I did not see this news.
yup.  we were supposed to roll over into the 7 month study in Feb, but it all got put on hold because the FDA wants to see why a few boys (including mine) were getting nose bleeds.

can someone clarify if a stop code in exon 40 would be helped by PRO044 ?'

'this is applicable to 6% of all DMD patients, including patients with deletions of exon 43, exon 45, exons 38-43, exons 40-43, exons 42-43, and exons 45-54. '

just not clear if the skipping has to be specific for exon 40 or if with PRO044 38-43 or 40-43 would allow the stop code in 40 to be skipped?

Hi Clare-- I think skipping exon 40 itself would put your son's mutation back into frame and get rid of the nonsense mutation, but skipping exon 44 probably wouldn't help.  There's a nice chart on the Prosense site here: http://www.prosensa.eu/patients-family/duchenne-muscular-dystrophy/... that shows what exons need to be skipped for various mutations.  You can see that removing exon 40 would give you an in-frame deletion (the pieces of the DNA on either side would fit together neatly) but skipping exon 44 in this case would actually give you an out-of-frame deletion that wouldn't be helpful.

 

Sharon

Hi Sharon thanks for that ,taking a while to undertand all this genetic bumff :(,

best regards Clare

I'm father of a 8 1/2 years boy, Miguel Joaquin, with a stop codon in exon 22. We life in Valencia, Spain. I would like to know if the exon skipping can restore the read frame in this case. And how time is required to aprove this drug.Thanks.

 

Hi Miguel:

 

Skipping exon 21 and 22 should remove the stop codon and give you an in-frame deletion, but I'm not sure if this is one of the combinations that Steve Wilton (from Australia) is working on.  In the United States PTC Therapeutics just submitted the New Drug Application for low dose Ataluren--if Ataluren is approved it will definitely be available sooner than exon skipping for stop codons. 

 

Sharon

Thanks for letting us know.

Jason Gautier said:
yup.  we were supposed to roll over into the 7 month study in Feb, but it all got put on hold because the FDA wants to see why a few boys (including mine) were getting nose bleeds.

Reply to Discussion

RSS

Need help using this community site? Visit Ning's Help Page.

Members

Events

© 2019   Created by PPMD.   Powered by

Badges  |  Report an Issue  |  Privacy Policy  |  Terms of Service