Will there ever be studies other than exon skipping and such????

Will there ever be studies for those of us whose children have outling exon duplications/deletions.  I am so thankful for all the studies, and PRAY they are succesful, but often wonder are we stuck just on the sidelines?  Maybe with the studies right now, they will quickly move on to those of us who do not qualify for the studies or near future treatments?  How many of us are out there?

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Permalink Reply by Peter on April 4, 2012 at 10:03am
Permalink Reply by Donna Cicardo on April 4, 2012 at 11:34am

Thank you, I will look through this information.  I have another friend who would be interested to read these.  My son has duplication of exon 2 and Pat told me yesterday, that the exon skipping would not work:

" Duplications are considered to be very difficult in terms of exon skipping because the 'chemistry' is designed to 'knock out/remove' a certain exon.   In terms of duplications, the chemistry would have to 'know' that it is supposed to take out only one of the exon 2's (in this case), otherwise it may well take out both exon 2's, which will not produce the truncated (shortened) protein."

 

so I got a little disappointed.  I know there is still hope, but just wish I knew more.

Thank you Peter.

Permalink Reply by Sharon Hesterlee on April 11, 2012 at 10:08am

Hi Donna:

There are a lot of drugs in testing and development that don't depend on exon-skipping.  Some approved drugs like Viagra and Spironolactone may end up working as well or better than some of these high tech approaches--the jury is still out while they are undergoing clinical testing.  Also, there should be three different utrophin upregulation trials launching in 2013 or 2014 and other drugs that help build muscle may be tested soon as well.  So I don't think anyone should be pinning all their hopes on exon-skipping, even those boys eligible for the exon-51 trials.  We are probably going to use combined drug approaches to the see the best effects.  But all of that being said, I do think companies will eventually develop skipping strategies for the rare exons and maybe even duplications, but other approaches may be available sooner.

 

Sharon

Permalink Reply by Donna Cicardo on April 11, 2012 at 10:47am

Thanks Sharon, I found two for the utrophin, SMT-C1100 and TVN-102 that MDA has donated $1 million (bycylin).  I am hopeful these will work.  My son has BMD, so has some dystrophin, but not enough.  He has duplication of exon 2, which is "severe BMD".  I had a lead scientist in california at Cedar Sinai Hospital who review his testings and said he has Beckers but presents as Duchenne.  they have a study using Viagra/cialis at Cedars Sinai and are looking for DMD boys for the first part of one portion of their study and later will need younger boys with BMD.  I had said to the lead nurse there how I felt like sometimes we will never find a treatment and she said "NO that is incorrect.  Based on what the scientists are finding and in the studies, it will be within the next 2-3 years for a treatment and possibly a cure"., is what she had said.  that sounds so promising.  We just need to keep pushing on, dont give up hope and faith that God will help the scientists along in this horrible disease.

 

Donna

Permalink Reply by Donna Cicardo on April 11, 2012 at 1:00pm

Sharon,

 

can you interpret on this website for skipping exon 2

http://www.humgen.nl/lab-aartsma-rus/Table%20duplications.pdf

 

Pat had told me you could not skip exon 2, but according to this list from Lieden, it says it has been proven to be able to be skipped?  what are your thoughts.  I am going to contact them to see if they can tell me.  Thanks

Permalink Reply by amit gupta on April 12, 2012 at 11:01am

Sharon, you said three  utrophin trials starting in 2013/2014. I thought Summit said they were starting trial for SMT-C1100 in 2012. Has that changed?

Permalink Reply by Sharon Hesterlee on April 12, 2012 at 2:32pm

Hi Donna:

 

I think you would have to skip exons 2-7 to put an exon 2 deletion back into frame--I'm not sure that we can do that big of a skip yet.  I'm not sure what is meant by that Web site.

 

Sharon


 
Donna Cicardo said:

Sharon,

 

can you interpret on this website for skipping exon 2

http://www.humgen.nl/lab-aartsma-rus/Table%20duplications.pdf

 

Pat had told me you could not skip exon 2, but according to this list from Lieden, it says it has been proven to be able to be skipped?  what are your thoughts.  I am going to contact them to see if they can tell me.  Thanks

Permalink Reply by Sharon Hesterlee on April 12, 2012 at 2:40pm

 

Hi Amit:

 

Good point--I think I was thinking of the first Summit Study that would include boys with DMD, which could potentially take place in 2013 if the safety study planned for this year is positive (and on time), but the utrophin drugs under development by Tivorsan and PTC Therapeutics may also require a healthy volunteer study first as well. That would put testing in boys with DMD out to 2014 for those studies.  And of course, that's with a best case scenario for the time line.  We've had a lot of discussion on the Community site lately about time lines and how jaded people have become about time lines since they are so frequently too optimistic. In light of those discussions I think should emphasize that these utrophin testing time lines I've speculated about are a) speculation and b) best case scenarios...but still promising.

 

Sharon


 
amit gupta said:

Sharon, you said three  utrophin trials starting in 2013/2014. I thought Summit said they were starting trial for SMT-C1100 in 2012. Has that changed?

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