Outliers - Intermediate between Duchenne & Becker MD

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Outliers - Intermediate between Duchenne & Becker MD

The reading frame rule holds true 90% of the time. There remains those 10% that does not fit dmd/bmd phenotype. There is a 3rd form that may be considered as an intermediate between Duchenne and Becker MD(mild DMD or severe BMD.

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Outliers?

Started by Simone & Elias. Last reply by KarstensMom Dec 31, 2017. 16 Replies

Utrophin

Started by Eliane Khoury. Last reply by Keith Van Houten Mar 25, 2009. 1 Reply

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Comment by Keith Van Houten on December 14, 2009 at 7:45pm
Regina - Feb 25 for us at Cincy.
Comment by Lisa Jones on December 14, 2009 at 11:24am
Regina,
We are going to test Bradley for HGH deficiency in June when we go back to Cincy. IN the meantime, we are going to be thinking about it over the next 6 months. I think we are leaning towards using the growth hormone; definately getting the testing done next time. He did not grow the 1/2 cm I thought he had....he hasn't grown any in height since he started deflazacort in June 2008. And there is a strong possibility w/o intervention he may not grow as long as he is on Deflazacort. The growth spurt he would normally around 15 or 16 may not happen without intervention either. So now, it may not seem to be an issue for Bradley but later it may. Many of his friends are beginning to get taller and he used to be one of the tallest in his class.

The endocrinologist said she doesn't think it is so much the deflazacort vs. prednisone as it is being on a steroid daily vs. the high weekend dose he used to be on. Deflazacort has been more beneficial with improving his being overweight and it actually seems to have made him stronger....so switching back to prednisone may not be the best option.

We are also going to have some glucose tolerance/insulin resistance testing which can be done during the testing for human growth hormone levels because they are also looking to put him on metformin for better weight control and to curve his appetite. They really want to work on getting his maintaining his weight or getting it down. Of course adding some height will also benefit his BMI (wt:ht ratio).
Comment by Regina on December 14, 2009 at 11:03am
Thanks, Ofelia. That might be many years away from people, but wouldn't it bode well for our boys?
Comment by Ofelia Marin on December 14, 2009 at 10:54am
Indeed, Eric Hoffman's group used a cocktails skipping exons 6,7 and 8 and obtained good results in dogs, using very high doses on morpholinos.

http://www.childrensnational.org/pressroom/NewsReleases/FirstExonSk...

http://www.mda.org/research/090316dmd-exon-skipping.html
Comment by Regina on December 14, 2009 at 10:39am
Keith- we will be in Cincy for the 1st time in Feb, also. When will you be there? I a was upset to see that you were told that exon skipping in the extrerme beginning of gene might not be helpful. I was under the impression that skipping exon 7 would help my son, and believe that Terry Patridge in DC saw great improvement in the dogs skipping that exon. I believe I read that quite awhile ago though, and was going to ask Dr. Wong about it in Feb.
Also, isn't it interesting that many of the boys in this group seem to have early deletions? Jordan is 8-11 deletion.

Lisa-- did Cinncy seem receptive to GH therapy? My son is diagnosed borderline low (GH about 8), but CHOP endo was reluctant to prescribe GH. We have an appt. w/ a dif. member of the team in Jan. Hope to have it straightened out b/f Feb.
Comment by Kristi Koop on December 13, 2009 at 8:41pm
I will do that.
Comment by Keith Van Houten on December 13, 2009 at 7:23pm
Kyle's 11 in May. I saw your questions about biostrophin on another thread, if you find out something more, please post it. Thanks, Keith
Comment by Kristi Koop on December 13, 2009 at 5:53pm
That sounds good to me since it appears to be approaching a clinical trial stage versus waiting on exon skipping to get to the lower exons. I have been trying to find out the latest on the biostrophin cause I think that would be beneficial also to these boys.

Thanks Keith and Lisa for all of your input. How old are your boys? Justin will be 12 in March.
Comment by Keith Van Houten on December 12, 2009 at 5:05pm
Lisa - I think so. After the skip, you wind up missing exon 2, and as I understood it, you don't get good functional dystrophin when you're missing exons in the extreme beginning and end of the gene.

Kristi - I think when anyone talks about exon skipping with an in-frame deletion, they're assuming that there's something more going on than meets the eye. You're right. An in-frame deletion would not normally be something you'd have any hope that exon skipping would work for. But, if it's an in-frame deletion and progressing like DMD, it may (stressing may) be a different case. Some deletions that are in-frame at the DNA level have been shown to be out of frame at the MRNA level. There's a paper out there on it. For example, they cite the deletion my son has. An exon 5 deletion during a test of the DNA, but if you test the MRNA, it shows an exon 5 and 6 deletion, which is out of frame. That's why the result is more like DMD than BMD.

My personal opinion - this is me only - is that if you need skipping of an exon beyond the first 4 they're working on now, there are other avenues that are more likely to happen for us than exon skipping. Like utrophin upregulation.
Comment by Lisa Jones on December 12, 2009 at 3:36pm
Keith, does this hold true for duplications at the front of the dystrophin gene as well? From what I understand, to fix the duplication of exon 2, the second exon needs to be skipped. Dr. Rybalsky seemed more enthusiastic about utrophin for Bradley.
 

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