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

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If the Republican house is successful in defunding the Healthcare act, those of us that used to have lifetime caps on our health insurance plans (me) can forget about exon skipping, anyway, as we'll surely reach that cap and have our sons cut off from the drug. (unless we find new jobs with new health care plans, or spend ourselves into bankruptcy and go on government aid, if that still exists...)

 

Something to think about.

Mindy, I can see the wealthy having access to this drug as soon as it hits the market in the EU or other countries and many of us never having access to it, even after it's approved here. It's so sad that I do not even want to think about it!

 

We are talking about a "cocktail" of drugs when some people will not even afford ONE drug in that cocktail. Look at Santhera's Idebenone price in Canada...just insane to think of having to pay for that and 4-5 others...

You are absolutely right.  The "no limit" provision of health care reform was huge for MD families. 

Mindy said:

If the Republican house is successful in defunding the Healthcare act, those of us that used to have lifetime caps on our health insurance plans (me) can forget about exon skipping, anyway, as we'll surely reach that cap and have our sons cut off from the drug. (unless we find new jobs with new health care plans, or spend ourselves into bankruptcy and go on government aid, if that still exists...)

 

Something to think about.



Sharon Hesterlee said:

No, exon-skipping is definitely not the only option....drugs that build muscle mass like Acceleron's ACE-031 are good possibilities as well as drugs designed to upregulate utrophin (biglycan, the Summit drug, the Project Catalyst utrophin upregulator).  There are also drugs in development that act through the steroid pathways without stimulating the side effects and then there are things like Prothelia's laminin 111 and gene therapy  to replce dystrophin directly as well....ultimately a combination of things will likely be required.

 

Sharon

Sharon,

Will any of these drugs help the older DMD guys who may not have many satelite cells left?  Thanks, Cheri

I think it means that the transversion has created a stop codon in exon 24 at the 12th amino acid.

From what I know I believe exon skipping would work and it would only require a single skip of exon 24 to remove the stop codon.

 


Jennifer Edge said:

Would Prosensa help our son who is 5 yrs old and recently been diagnosed with DMD he has no deletion/duplication but a stop codon -Glutamic acid> OCH- Codon position 1066- Nucleotide position 3196- DNA Variant 1 Transversion G>T  we been told this is a sequence alteration can someone please explain this to us.where is the mutation we can't seem to get a answer. We see Dr wong next week for the first time and I'm sure she will have the answer but I don;t know if I can wait any longer.

Cheryl:

 

I think we won't know how well any of these things work for older or younger boys before we try them...on the plus side, if you drive muscle growth it looks like you might actually be able to reverse some of the fibrosis (scar tissue that forms as muscle is lost).  Some types of strategies might make more sense than others for the older guys.  For example, gene therapy probably won't be very effective for the older guys, but something like ACE-031 might.  Again, we probably won't know until we test the drugs in the different age groups.

 

Sharon

Sharon,

When you say it might reverse the fibrosis how will that help?  Can it revert to muscle?  Thanks, Cheri

Jeff Chamberlain actually did some studies years ago using viral vectors to deliver both dystrophin and another gene called Myo D that is important in the development of muscle cells.  When fibroblasts (the cells that make the fibrotic scar tissue) took up those genes they were pushed down the muscle cell path.  So in theory you could possibly convert the cells that make the fibrotic tissue into muscle cells, but it's unclear if you can do that naturally (without gene therapy).  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.

Sharon,

Thank you for the clarification.  What do you mean by "When fibroblasts (the cells that make the fibrotic scar tissue) took up those genes they were pushed down the muscle cell path"?

 

I understand how ACE-031 could turn on muscle growth with satalitte cells but how would that work in the older boys without satalitte cells left?

 

Thanks Cheri

So, you can basically turn fibroblasts into muscle cells if you make them express myo D (which they don't normally do).  This is a pretty artificial situation.  BUT, I also saw a paper recently suggesting that driving muscle development leads to decreased fibrosis, but let me see if I can find the exact reference before I comment further. 

Hi Sharon,

Sorry i am not techincally sound. Do you mean to say that ACE 031 + genethearpy can get the older kids off the wheelchair?

Thanks,

Amrit



Sharon Hesterlee said:
So, you can basically turn fibroblasts into muscle cells if you make them express myo D (which they don't normally do).  This is a pretty artificial situation.  BUT, I also saw a paper recently suggesting that driving muscle development leads to decreased fibrosis, but let me see if I can find the exact reference before I comment further. 

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