Exon skipping and rarer deletions
Can anyone point me in the direction of more recent information about exon skipping and rare deletions? My son has a deletion of exons 60-62. There's a possibility with this deletion that it could be Becker, but he is 5 years old with symptoms so hard to say. Looking at the diagrams of dystrophin, it's hard to see if there is a way for exon skipping to help with this one. But that's beside the point, I just was curious where things stand as far as research and rare deletions…I can only seem to find older information, from 2010 or earlier.
Replies to This Discussion
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Permalink Reply by Andrea Cleary on
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Hi Maggie,
I think your son would need multiple exons skipped and in a region of the gene where they have not developed the drugs YET to do so unfortunately. You can see the chart and sign up anyway on Sarepta's Let's Skip Ahead site.
But what is encouraging are things like utrophin upregulators like SMT-1000 by Summit or biglycan and things like Halo, which are not mutation specific.
I hope the above links work. :+)
Andrea
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Permalink Reply by Maggie on
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Thanks Andrea. Yeah, that's what I had gathered. He needs exons 59 and 63 skipped I think. Not happening any time soon. We don't know if he even has DMD, since it could be a more severe BMD based on that mutation, so it may be moot anyway. I'm definitely keeping an eye on those other drugs in the pipeline.
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Permalink Reply by David on
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IMHO exon skipping for rare exons is AT LEAST 10 years away probably longer. Considering that these treatments hope to stop decline not improve strength, I fear the people who will benefit have yet to be born. I myself try to ignore the SAREPTA news which is hard and focus on other treatment options. We are in the Eplerenone trial and have high hopes for that along with Halo. The Summit project just seems to move at a snail's pace in comparison. .. my opinion
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Thanks Dave. I have already managed to accept that exon skipping will not be our solution and hoping for some of the other possible treatments to have some positive trial results. Is the Summit project utrophin? My son is only 5 and so far not getting weaker yet, so I am holding out a little bit of hope that something will work, or at least slow progression, in time for him. But it won't be an exon skipper unfortunately.
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Permalink Reply by Marion T Weatherford on
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Treatment to treat the rare exons is totally dependent on the FDA recognizing dystrophin as a surrogate endpoint for accelerated approvals. Once this is accomplished it will take less than a year to bring each new Exon online. You can help. The FDA is dragging its feet. Join the movement.
https://twitter.com/alexswish/status/440197537224327168
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I can only imagine every parent of a child with DMD is doing everything they can to try and convince the FDA, as well as putting pressure on congress to put pressure on the FDA. Also raising awareness so that other people will do the same. I hope you are right that once it gets the green light, the rest of it comes quickly! And I hope it gets the green light SOON!
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Hi Everyone my son has deletion of exon -44 which skipping help him . His age is now 4year . Pl suggest us what should do so that his life quality improve. How we differentiate bmd with dmd. there is any test which call clear it. which reasearch company need to looking for everyday till solutions
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Permalink Reply by Keith Van Houten on
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An exon 44 deletion would be predicted to result in Duchenne. In theory, skipping exon 45 would restore the reading frame. The only way to differentiate DMD and BMD with certainty is a muscle biopsy.
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I have a friend whose son was diagnosed with DMD based on out of frame mutation, but has milder symptoms and a muscle biopsy was done and they found some dystrophin, but kept the diagnosis DMD. I was under the understanding that dystrophin in the muscles=BMD? She says no, since it is out of frame, it is still DMD and that is what she was told. I think that isn't correct…maybe it was because it was a small amount of dystrophin? I'm confused...
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The usual definition is <5% dystrophin is termed duchenne. So, it depends on what "some" meant.
A diagnosis based solely on the DNA result showing an out of frame mutation is done using what's called the "reading frame rule". The validity of the reading frame has been studied using a database of outcomes, and it holds about 91% of the time.
Maggie said:I have a friend whose son was diagnosed with DMD based on out of frame mutation, but has milder symptoms and a muscle biopsy was done and they found some dystrophin, but kept the diagnosis DMD. I was under the understanding that dystrophin in the muscles=BMD? She says no, since it is out of frame, it is still DMD and that is what she was told. I think that isn't correct…maybe it was because it was a small amount of dystrophin? I'm confused...
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