What are non exon skipping/PTC parents following for research?

I attended a research seminar at the U of WASHINGTON last week.  Speakers were: Ryszard Kole, PHD & VP of AVI; Stephen Hauschka, PHD, head of the BioChem Dept @ Uni of WA; Stanley Froehner, PHD & Researcher at U of WA and Cam Lanier,CD, RD Nutritionist at Seattle Children's Hospital.  It was a great event and I learned alot.  The research seminar was hosted by MDA and the Scheider and Leffler families. 

 

I had the opportunity to ask Dr.Kole of AVI why duplications weren't being considered in exon skipping.  His answer was that they are too completed.  I thought this was interesting b/c I had responded that Steve Wilton, the researcher that sold the exon skipping patent to AVI, said that he could skip our sons' exons - 54-57.  AVI is also involved in hemophagic research with the Federal Government.  AVI is a biopharma here in Seattle, WA 

 

Dr. Stephen Hauschka is working with Dr. Jeff Chamberlain on the AAV - which is the development of the mini dystrophin that is inside a viral vector, called AAV.  The research that Dr. Hauschka is developing is interesting.  He is developing a "regulatory cassette" that is joined with the mini dystrophin that Jeff Chainberlain has honed down size wise to fit into the virus - an huge feat due to the gene being the largest in the body.  The virus, is stripped down until it's empty inside and then the two products - regulatory cassette and micro dytrophin are joined together.  Dr. Hauschka has worked an numerous regulatory cassettes and has now gotten one that will regulate not only the skeletal muscle but the cardiac muscle.  He explained the dytrophin gene and how many base pairs of amino acids there were and how he and Dr. Chamberlain have worked to shrink it down to fit inside the vector (AAV).  He explained that we are in the early days of gene therapy so he is cautiously optimistic about his work. He is ready to write the dog model protocol so I am guessing that this therapy is some where of 5-7 years down the line and I am just guessing on that.


Dr. Stanley Froehner of U of WA presented his research on how Viagra increased production of nitric oxide in the muscles which benefits the skeletal and cardiac muscle.  What's great about this research is that the RX is already FDA approved albeit not in the pediatric population yet.  Dr. Froehner pointed out results from the MDX mouse that Viagra has the possibility of reversing cardic damage.  He also noted in his power points at how quickly the Viagra showed positive results.  John Hopkins - has a trial going on for older DMD guys now from 15-50 yrs old.

 

Cam Lanier, CD, RD spoke about the various stages and how important it is to control your son's weight through nutrition.  This will allow him to respond to the disease in the healthiest condition possible to the DMD.  She spoke about bone health, need for hydration, constipation, gastroesophageal reflux and swallowing problems. 

Anyway - thought I'd share the information. 

Question for parents - If you boy doesn't qualify for exon skipping/PTC RX, what are you following - research wise?  I know we should be following all research.  But, we all have a finite mount of time and that's especially true if your son is growing older. 

Thanks!

Char Burke

mom of Will, age 8 yrs 6 months

 

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We don't even know our sons mutation and to be quite honest I have enough on my  hands with living with a 20 y/o who can't go to the bathroom by himself and has had his epilepsy rear it's ugly head in his life to think about much of anything. I also have my two daughters, who although they are adults are still living at home and adding to the general chaos. I am aware that there is research out there but Jonathan being older, never has taken steroids and can't have an MRI (due to his Vagal Nerve Stimulator for his seizures) doesn't really qualify for much.There is the sidenifil (Viagra) study which he could qualify for except for the whole can't have an MRI done. I guess my answer is that I don't really follow anything too closely, I never have.
Here is the response that I got from Dr. Hauschka about the time line on the AAV.
The dog trial is ongoing at the Hutch.  What we're working on now is an application to the FDA for a limited human safety trial.  This will not be a trial that provides direct functional benefit to DMD individuals, but it will tell us whether we're on the right track, so that more beneficial trials can then be planned.
Char Burke
Susan - Thanks for the response.  I don't know your situation but steroids maybe of some help to your son from a cardiac and lung standpoint.  I have heard of older guys using them.  But, not sure with the epilepsy.  I will keep you and your family in my prayers.  Best, Char Burke
He is actually doing really well. His Pulmonary function is still normal and he just started cardiac meds last year. We have been having a discussion about starting low dose steroids but Jon's not on board and since he's 20 there is not much we can't do. I don't regret our decision about not using steroids and would only consider them now on a trial basis to see how things go. He recently took a bad fall out of his shower chair as the result of a seizure and only had a few bruises. I was actually surprised he didn't break anything.
Char, I would be following the ACE-031 it is looking really amazing right now...as stated earlier, Trey will be in the AVI trial, however that ACE-031 just looks amazing to me and it is going really well and amazingly moving really fastly...I believe it is supposed to be here in the states for trials next year...I know never soon enough, but the doctor that is running the trial I have met and he is truely an OUTSTANDING man with a wonderful heart, and when he stated that it would probably be available in Canada, of course before here, I had mentioned that maybe we could do like we do for Deflaz (US Dr. write script, we order it and pay on our own)...and then I made the side comment that 'oh it would probably be too expensive to even think about being able to do that', and he grabbed my hand and said 'My heart lies with all the DMD boys, I don't plan on making a killing off of them'...so I guess we will see...

Cori - yes, I am aware of the ACE-031 myostantin inhibitor.  ACE-031 inhibits the myostantin thereby helping the muscles enlarge and keeps fibrosis down.  But, it is different than the exon skipping.  Plus, I have heard that the clinical trial here in the US, that they want to participants to be free of steroids.  I personally think that's unethical to have boys who have a life threatening disease, be taken off them so that the clinical trial numbers would look better.  But, perhaps I am wrong and they will allow it.  Who is the doctor that is running the trial that you have meet and like so much?  Cori thank you for the thoughts - you are a good person and I appreciate your candor and thoughts.  Good luck on the exon skipping trial.  Char Burke

Hi Char

 

I am thinking that they want to start out with no steroids so that they can discern the efficacy of their drug.  If it is good, then they will probably do a quick sub population of steroid users to check for interaction effects.  Ethically I would think if everything is "golden" then the population (large) that is on steroids would be brought into the trial.  The caution lies with the interaction of the 2 meds.

Char Burke said:

Cori - yes, I am aware of the ACE-031 myostantin inhibitor.  ACE-031 inhibits the myostantin thereby helping the muscles enlarge and keeps fibrosis down.  But, it is different than the exon skipping.  Plus, I have heard that the clinical trial here in the US, that they want to participants to be free of steroids.  I personally think that's unethical to have boys who have a life threatening disease, be taken off them so that the clinical trial numbers would look better.  But, perhaps I am wrong and they will allow it.  Who is the doctor that is running the trial that you have meet and like so much?  Cori thank you for the thoughts - you are a good person and I appreciate your candor and thoughts.  Good luck on the exon skipping trial.  Char Burke

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