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clinical trial

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

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Permalink Reply by Jason G on April 4, 2011 at 3:02pm

"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

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Permalink Reply by Ofelia Marin on April 4, 2011 at 4:04pm

What's the problem with the slow progress? Do they have enrollment problems? What happened?

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Permalink Reply by Jason G on April 4, 2011 at 4:59pm

the study is on hold while they investigate nose bleeds.

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Permalink Reply by Bains on April 5, 2011 at 7:40am

You mean ACE-031 study on hold? I did not see this news.

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Permalink Reply by Jason G on April 5, 2011 at 9:26am

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.

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Permalink Reply by Clare Harper on April 5, 2011 at 9:27am

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. '

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Permalink Reply by Clare Harper on April 5, 2011 at 10:14am

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?

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Permalink Reply by Sharon Hesterlee on April 5, 2011 at 11:01am

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

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Permalink Reply by Clare Harper on April 5, 2011 at 11:06am

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

best regards Clare

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Permalink Reply by Miguel Vte. López Rodríguez on April 5, 2011 at 12:47pm

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.

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Permalink Reply by Sharon Hesterlee on April 5, 2011 at 12:54pm

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

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Permalink Reply by Ofelia Marin on April 5, 2011 at 1:38pm

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.