The only things I found about the brain were that the incidence of learning disabilities etc. is higher if exons after 55 are missing, when dp116 is not produced. Have you found any papers about the 45-52 range and autism and mental retardation?
who cares what my concerns are...this is why they are the researchers:
The next exons to be skipped. All the boys who take part in this systemic trial need skipping of exon 51. Which exons will be the next whose skipping you will develop?
Gerard Platenburg (Prosensa (company x))
We have two antisense molecules in development for skipping exons 51 and 44. As long as we can financially do it, we will develop them up to the concept stage, that one sees benefit. And then we have also identified AONs for skipping other exons that need to be developed in addition to the two. On this initial list are the exons 43, 45, 46, 50, 52 and 53. We already have made the AONs for each of them.
Ya think company x is trying to get there first with PMOs? hey, doesn't bother me...someone has to be first. besides, there's meds out there to help the heart until PPMOs would be ready.
So, there's a race...exon skipping vs. pill cocktail....at least it's something. 5 years ago, only steroids....today, only steroids....and all the other stuff you gotta take to counter against the pitfalls of steroids.
I think , that only PCT 124 would bring big yearly revenue for investors and for company. PCT124 will treat not only DMD/BMD but about 180 (or 1800?) diseases where nonsense mutations are involved.
"Exon-skipping is not going to be 100% efficient and will never do more than make a DMD boy able to grow up to be a Becker's man......but this first generation of treatments is not going to do anything more than buy us time."
This is sooooooooo true. A while back, 8-12 months ago, i did some investigation on Beckers and the progression of it. On record, there have been patients who seen their 80th birthday. On the flip side, there are cases that fail to make it to 25....the progression can be identical to DMD.
That said, with exon skipping, who's to say which end of the statistics our children end up on. At the minimum, exon skipping gives the chance that our children will get a slow progressing form of BMD.
I met a gentleman in Oregon back in June who has BMD. He is 29 and confined to a wheelchair full time since he was 21. He can't lift his arms to eat, but he had no problem drinking champagne through a straw with his Sunday brunch. ;-)
“Your body stops making utrophin for a reason, and we're all about to find out why.”
Is this completely true? I know it is sort of true for you and myself, though we still do have UTRN in our bodies…I believe in smooth muscle. But what about in our boys? If they have 0% dystrophin, then they should still have a lot of UTRN in their systems since there is not any dystrophin to take it over.
“Utrophin expression is dramatically increased in patients with Duchenne's muscular dystrophy (and female carriers), both in those muscle fibers lacking dystrophin and in rare, revertant fibers that express dystrophin.”
With what is available today, I think a good place to start with our boys is to preserve muscle how ever as a parent we feel possible and do what we can to protect the lungs and heart. If nothing comes in time to keep our children walking, at least we know we have kept close tabs on the function of their lungs and hearts.