"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
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. '
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.
Hi Sharon thanks for that ,taking a while to undertand all this genetic bumff :(,
best regards Clare
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.
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.