Hi--Just wanted to introduce myself.  I joined PPMD in January as the Research and Advocacy Director after 11 years at MDA running their translational research and drug development programs.  At PPMD I'll be further developing work with drug companies, reviewing and growing the main research program and participating in advocacy intiatives.  I will also try to jump in as much as possible to answer questions about research and track down information about new treatments/therapies that anyone hears about.  One of my first projects along this line is to get to the bottom of this stem cell report from Costa Rica.  If anyone posts something that needs a response from me and you don't hear from me, you can always send me a nudge at sharon@parentprojectmd.org.  I'm really excited about the chance to focus exclusively on Duchenne and am looking forward to hearing from all of you.

 

Best Wishes,

Sharon Hesterlee

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Giulio Cossu's group is working on the ibuprofen+ISDN: http://community.parentprojectmd.org/forum/topics/isosorbide-and-ns...

TACT is reviewing this month: http://www.treat-nmd.eu/about/news/news/782/



Sharon Hesterlee said:
I can tell you that before I left MDA, MDA Venture Philanthropy (MVP) funded two drug studies to develop steroid replacements...both drugs targeted the inflammatory cascade without stimulating the hormone receptor, which is likely to be the cause of many side effects. Both companies, Catabasis and Validus, are small start-ups (Validus is Eric Hoffman's company) and they are still looking at efficacy in mouse models. I haven't heard anything about the ibuprofen combo you mention, but it doesn't mean that someone isn't trying it...at MDA I was focused on about 40 different neuromuscular diseases, so you guys might be more up to speed than I am on some of the more obscure strategies--at least for now!
I would be very interested to see what you find out about AVI/prosensa. The post makes me scared - if exon skipping isn't moving, what is, really? (besides PTC) I don't see much else that will hit the clinic in time for my son.

My question is whether it's time for some advocacy at the FDA. I know the process is supposed to be immune from influence, but if there are people there who really lack enough understanding of exon skipping to demand impossible data, then that group needs to be challenged. I have no problem pitching a tent on their lawn. Is that something that you can help us determine?

Thanks so much,
Mindy
Hi, My son is Jonathan and he is just about to turn 19 and ten years after his diagnosis we are still searching to identify his particular deletion/mutation. He has had a muscle biopsy and 3 DNA tests, none have been able to identify this for us. A genetic counselor from Duchenne Connect has worked with our son's neurologist. Do you know of any studies that might help us identify this?
Hi Mindy:

Exon skipping is moving in Europe and that progress will help things in the U.S. I think a lot of these myostatin inhibition type therapies will start hitting the clinic in the next year or so (Acceleron is theoretically supposed to start a DMD trial this year) and the near term pipeline of therapeutics for DMD is really full. I think we're going to see a lot of clinical trials in the next few years. We are already worried about being able to recruit enough participants for all of these simultaneous trials, which is a good problem to have.

Sharon

Mindy said:
I would be very interested to see what you find out about AVI/prosensa. The post makes me scared - if exon skipping isn't moving, what is, really? (besides PTC) I don't see much else that will hit the clinic in time for my son.

My question is whether it's time for some advocacy at the FDA. I know the process is supposed to be immune from influence, but if there are people there who really lack enough understanding of exon skipping to demand impossible data, then that group needs to be challenged. I have no problem pitching a tent on their lawn. Is that something that you can help us determine?

Thanks so much,
Mindy
Sorry--I see I didn't answer your question about advocacy with the FDA. I think with the FDA all advocacy efforts have to be conducted pretty carefully. We certainly don't want to advocate that the FDA compromise safety, but we do want them to apply common sense to certain situations and work with us to do some creative problem solving. We have a very good relationship with the Office of Orphan Products at the FDA and that office knows that we are frustrated about exon-skipping. There's a meeting in the planning stages for this Fall to really tackle exon-skipping from the regulatory standpoint. I know that doesn't feel like things are moving particularly quickly, but that's about as fast as you can plan a government meeting.

Sharon Hesterlee said:
Hi Mindy:

Exon skipping is moving in Europe and that progress will help things in the U.S. I think a lot of these myostatin inhibition type therapies will start hitting the clinic in the next year or so (Acceleron is theoretically supposed to start a DMD trial this year) and the near term pipeline of therapeutics for DMD is really full. I think we're going to see a lot of clinical trials in the next few years. We are already worried about being able to recruit enough participants for all of these simultaneous trials, which is a good problem to have.

Sharon

Mindy said:
I would be very interested to see what you find out about AVI/prosensa. The post makes me scared - if exon skipping isn't moving, what is, really? (besides PTC) I don't see much else that will hit the clinic in time for my son.

My question is whether it's time for some advocacy at the FDA. I know the process is supposed to be immune from influence, but if there are people there who really lack enough understanding of exon skipping to demand impossible data, then that group needs to be challenged. I have no problem pitching a tent on their lawn. Is that something that you can help us determine?

Thanks so much,
Mindy
Has Kevin Flanigan's group done a full gene sequencing? I think Flanigan is probably one of the best equipped to find those really difficult mutations. Sounds like you are doing all the right things.

Susan Rathfelder said:
Hi, My son is Jonathan and he is just about to turn 19 and ten years after his diagnosis we are still searching to identify his particular deletion/mutation. He has had a muscle biopsy and 3 DNA tests, none have been able to identify this for us. A genetic counselor from Duchenne Connect has worked with our son's neurologist. Do you know of any studies that might help us identify this?
Hi Mindy,

I'm with you, ready to go medieval - sharpened pitchfork still in my garage. However, it is my belief that even tho the FDA isn't allowing exon skipping to go forward here in the US, it is going forward in other places, specifically the UK. My understanding, such as it is, is that once a medication has obtained EMEA approval it is easier to get it past the FDA. Not the "american" way but it might end getting to market here much faster by coming in the back door.

Still, the pitchfork at the ready, just in case.
cheryl

Mindy said:
I would be very interested to see what you find out about AVI/prosensa. The post makes me scared - if exon skipping isn't moving, what is, really? (besides PTC) I don't see much else that will hit the clinic in time for my son.

My question is whether it's time for some advocacy at the FDA. I know the process is supposed to be immune from influence, but if there are people there who really lack enough understanding of exon skipping to demand impossible data, then that group needs to be challenged. I have no problem pitching a tent on their lawn. Is that something that you can help us determine?

Thanks so much,
Mindy
Cheryl - I totally get that. I really do. But I feel like I'm looking at a 1 1/2 year window here to get something in his body before he possibly won't get the kind of results that I hope for from exon skipping. We all know that it will work better the earlier the boys can get access.

And I'm tired of being patient. I will not be that parent who watches my dying son saying, "Gee - I wish they had just pushed that drug through the approval process one year faster." I swore when he was diagnosed that I would have no regrets, and that doesn't include waiting passively if it seems there is work to be done. But maybe I just need a sedative.

Sharon - thank you very much for the information. I thought that exact meeting you're describing took place already in London last fall. Why on earth is the FDA planning another one that sounds exactly the same one year later? Was nothing accomplished last fall?
Sharon, what other myostatin inhibitors are getting close to trials besides Acceleron's and the one from project Catalyst that is years away?

Sharon Hesterlee said:
Hi Mindy:

Exon skipping is moving in Europe and that progress will help things in the U.S. I think a lot of these myostatin inhibition type therapies will start hitting the clinic in the next year or so (Acceleron is theoretically supposed to start a DMD trial this year) and the near term pipeline of therapeutics for DMD is really full. I think we're going to see a lot of clinical trials in the next few years. We are already worried about being able to recruit enough participants for all of these simultaneous trials, which is a good problem to have.

Sharon

Mindy said:
I would be very interested to see what you find out about AVI/prosensa. The post makes me scared - if exon skipping isn't moving, what is, really? (besides PTC) I don't see much else that will hit the clinic in time for my son.

My question is whether it's time for some advocacy at the FDA. I know the process is supposed to be immune from influence, but if there are people there who really lack enough understanding of exon skipping to demand impossible data, then that group needs to be challenged. I have no problem pitching a tent on their lawn. Is that something that you can help us determine?

Thanks so much,
Mindy
Hi Sharon - It's great to have your intelligence and know how here at PPMD! I am a mom of a 7 year old with a duplication of 54-57. I often am frustrated at the lack of information about duplications. If DMD is a rare disease and only 10-20% of boys have duplications, that makes it super rare. Any white papers, researchers, web sites you could recommend? I actually sent you a request on Facebook and you recommended reading the Quest issues which I have been doing. You are correct - those are written with the non doctor, researcher in mind and yet get the concept across. I am focusing on care and uptrophin and drugs that would slow down the cardiomyopathy. Again - welcome and we are so thankful to have someone like yourself. Sincerely, Char Burke
Hi Mindym

I completely agree with your position and feel the same as you. Alexander is going off his feet soon and we know what comes after that. We too are in a hurry to get something to save our son. My question is for Sharon, with death staring us in the face WHY in the world is it impossible to sked a meeting sooner than next fall? Obviously the FDA isn't getting the urgent message that meetings need to be held NOW in order to save lives this year!!

Mindy said:
Cheryl - I totally get that. I really do. But I feel like I'm looking at a 1 1/2 year window here to get something in his body before he possibly won't get the kind of results that I hope for from exon skipping. We all know that it will work better the earlier the boys can get access.

And I'm tired of being patient. I will not be that parent who watches my dying son saying, "Gee - I wish they had just pushed that drug through the approval process one year faster." I swore when he was diagnosed that I would have no regrets, and that doesn't include waiting passively if it seems there is work to be done. But maybe I just need a sedative.

Sharon - thank you very much for the information. I thought that exact meeting you're describing took place already in London last fall. Why on earth is the FDA planning another one that sounds exactly the same one year later? Was nothing accomplished last fall?
Exactly. Or even save lives next year, or the year after that, or years form now. When you say clinical trials will start in the next "few" years, will not make anyone who knows how many years it takes from the start of a trial to market approval in the US feel better.

We have, in exon skipping, something that can start THIS year w/o safety concerns (since it's already tested in boys in Europe for more than a year now, not to mention the safety profile of morpholinos). What is wrong with this picture and why does this happen when you say that you have a good relationship with the Office of Orphan Products at the FDA? Do they understand that DMD is 100% fatal and that there is a SHORT window of time when an exon skipping treatment (if ever approved) can be therapeutic? Above all, how can they explain to us (parents and DMD patients) why a boy in Europe has the right to be treated before a boy in the US?

It is ridiculous really, we are waiting for approval of a small, 32 patient-12 week trial (AVI/Columbus), not a Phase III trial. I am sorry but, at this point in time, I do not buy it.

I do understand the safety concept, I have a PhD in statistics and I have been involved in clinical trials; I am reading most of the published papers. I understand how complex DMD is and the need for a cocktail of medications to stand a chance to treat it. I've heard the "FDA did many good things" already...why aren't they doing the right and sensible thing now?



cheryl cliff said:
Hi Mindym

I completely agree with your position and feel the same as you. Alexander is going off his feet soon and we know what comes after that. We too are in a hurry to get something to save our son. My question is for Sharon, with death staring us in the face WHY in the world is it impossible to sked a meeting sooner than next fall? Obviously the FDA isn't getting the urgent message that meetings need to be held NOW in order to save lives this year!!

Mindy said:
Cheryl - I totally get that. I really do. But I feel like I'm looking at a 1 1/2 year window here to get something in his body before he possibly won't get the kind of results that I hope for from exon skipping. We all know that it will work better the earlier the boys can get access.

And I'm tired of being patient. I will not be that parent who watches my dying son saying, "Gee - I wish they had just pushed that drug through the approval process one year faster." I swore when he was diagnosed that I would have no regrets, and that doesn't include waiting passively if it seems there is work to be done. But maybe I just need a sedative.

Sharon - thank you very much for the information. I thought that exact meeting you're describing took place already in London last fall. Why on earth is the FDA planning another one that sounds exactly the same one year later? Was nothing accomplished last fall?

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