Well - I've been checking up on the Gunvalson vs. PTC124 case - and it looks like PTC's appeal was successful and the courts have thrown out the lower court decision that required PTC Therapuetics to supply PTC124 to the Gunvalsons. I'm not sure what all this would have meant or what might still happen...


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Paul, this is the first I am hearing of this. Why did it get to court in the first place. there are guidelines for those who can particpate. What happened.
Barb Rush said:
Paul, this is the first I am hearing of this....What happened.
YOu can read this: which will point you to a couple NYT's articles:

And here are several Blog articles that are interesting reading that breakdown the decision and such...
Hi,what I don't understand is Dr finkel said about the GUNVALSON son has a BMD AND Dr WONG said is DMD,
My neurologist recommand me to check with CHOP for a trail knowing that my son have a deletion 45 only I called chop about the trail their answer was no ,he isn't allegebal ,going back to my neurologist she said MAY BE have a stop codon,but the test can't be done at dupont,,,waiting for a long time she never order the test after she agree to send his blood to another lab,,,,my story is long with alot of unanswered questions.
what's the difference blood test wise between BMD& DMD????
I'm not sure I completely follow your post it seems odd to me. If your Nuerologist knows your son has a Deletion at 45, then they would know that he wasn't eligible for the PTC124 trial at CHoP as that is only for boys with Nonsense (stop-codon) mutations. I wonder where your genetic testing was done... it isn't done at the hospital. They just draw the blood and then send it off to one of a couple places (Emory U, UTAH are two I know of) where they do the genetic testing and send back the results. There have been a number of posts on here about the genetic testing aspect which you can search for to read more.
With regards to your question... "what's the difference blood test wise between BMD& DMD?", my understanding is there is no difference when it comes to the blood test. From the the genetic sequencing they determine the type of mutation your son has. Then from past experience at this point they can make an informed guess about the likelihood of DMD vs. BMD. I *think* the only way to know for sure in the early stages is to have a muscle biopsy where they actually check to see how much if any, and what quality of dystrophin protien your son is making.
I'm not sure I'm 100% right - but I think I'm in the ballpark and some others can clarify, elaborate, correct my information if I'm off...


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