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Comment by Char Burke on May 24, 2011 at 1:38am
Pat - Have you heard any thing about the personalized medicine proposal that you state would be focused on rare mutations?   You don't indicate what the pharma is - would it be PTC?  I would like to know so that I can follow it as I am sure others would as well.  Thank you,  Char Burke

Comment by Pat Furlong on April 17, 2011 at 6:30pm
char, we are expecting two prposals focused on exon skipping. One will be with Prosensa. The other would focus on personalized medicine, specifically focused on rare mutations. Both will be requests for support from PPMD.
Comment by Char Burke on April 17, 2011 at 6:09pm

Thanks Pat - On the work you are doing on the "group collaborating on personalized exon skipping - rare mutation - and are expecting a proposal soon.  What do you mean by rare mutations and what would the proposal be for? Would the proposal be for the FDA or NIH? 

Thank you,

Char Burke

Comment by Pat Furlong on April 17, 2011 at 7:54am
Hi Char, The 2.5 Million investment is Project Catalyst - 4 targets (utrophin, integrin, myostatin inhibition and igf-1). It has increased by 250K and likely to increase over this year as we have added a Serca2a target which is cardiac specific. The Serca2a is in lead optimization which means we have found 'hits' and now taking the next steps.
We are also working out details (and following review) for several projects related to exon skipping. One is a study required by fda with Prosensa. We are providing 50K as a block grant to the (AVI) exon skipping (51) trial. In addition, we are working with a group collaborating on personalized exon skipping (rare mutations) and are expecting a proposal. Sharon is in touch with this group and assisting them with the grant submission.
We typically update Project Catalyst every quarter. We expect another report in May and will soon (cross fingers and pray) announce a clincal candiate on Utrophin. Once that is filed, the IND enabling studies will begin. Several compounds are coming along behind the utrophin compound.
I will be seeing Lee and John Porter this week. Remember that Project Catalyst also includes a 15M RAID (NIH) grant. I am attending the MDCC (muscular dystrophy coordinating committee) meeting in DC on Wed. I'll send along a report from the meeting.
Sharon is out this week, on a holiday with her family.
Sincerely, Pat
Comment by Char Burke on April 15, 2011 at 11:03pm

Hi Sharon - First of all, thank you for the post.  I appreciate the information.  I noted that alot of the funding is going to PTC for 2.5 million.  I am curious if this is for the stop codon RX or Project Catalyst.  I would like to know more about Project Catalyst - I read that there are 5 areas that are being targeted: myostantin, IGF-1; utrophin, etc.  I have not seen anything in writing about where Project Catalyst is with these targets.  Can you share where they are at?  Is Project Catalyst involved in any exon skipping?  Where could I read about Project Catalyst on a regular basis? 

Thank you!

Char Burke

Comment by Sharon Hesterlee on March 25, 2011 at 5:16pm

Hi Char:


Pat's on her way back from Israel today so I'm responding to your request for more information and links...if you haven't checked out the research information on our site lately, you'll find that everything has been updated.  There's now a "pipeline chart" to track the status of all therapies (go here and then click on any experimental therapy to get more information)  and you can find out information on everything PPMD is funding at


We will have an announcement within the next couple of weeks for additional funding for an exon skipping project and another on a new trial for sildenafil and tadalafil in younger boys.  We are also currently funding travel awards for all of the ACE-031 sites right now so that people can be reimbursed for gas, meals and hotel when traveling to participate in that study.  We have tried to invest widely in therapies that are both mutation specific and mutation non-specific because there will not likely ever be a "one size fits all" treatment or even a single magic bullet.  More likely we will have to tailor combinations of approaches for each boy.


Hope this helps, but check out the new research pages--we put up many new pages of additional material.



Comment by Char Burke on March 25, 2011 at 10:01am

Hello Pat,

Thank you for the response.  I would like to look into the status of the mystantin trials and the other research you indicate that are in the pipeline.  Could you post some links or web sites that would go into details of the current status?  Could you also tell all us duplications/non exon skipping 50 and 51 parents what PPMD is investing in?  Thank you Pat.  Char

Comment by Char Burke on March 22, 2011 at 1:01am
For all of you duplication group - I want to give you the correct email address for Pat Furlong - it's  I encourage you to email her about your concerns on duplications and how they appear to lag behind the other mutations.  Thanks.  Char Burke

Comment by Pat Furlong on March 21, 2011 at 1:53pm

Hello Char and hello everyone,  I know there are rumors are rampant about where AON is going, what AVI, Steve Wilton, Eric Hoffman, Professor Muntoni, Matthew Wood, Prosensa/GSK and others are doing and planning.  And I realize, it feels like you need the right 'code' to be included in the current feeling of hope, at least in terms of exon skipping (AON), with all of the apparent emphasis on deletions and in the 40-50 range.   If your son has a duplication, it feels like you are not just sitting in the back of the bus, but not even on the bus in terms of exon skipping.

Here's the thing.  AVI and Prosensa/GSK are aggressively pursuing avenues with the goal of approval for the backbone chemistry.  The idea is that IF the backbone chemistry (2 o-methyl or morpholino) was to be approved, regulatory agencies might be willing to consider a modified tox package in terms of adding each particular sequence.   There are models for clinical trials where there are few patients (N= 1 or N+ <10) for instance, so this is not the issue.   And while all of us, in our head and hearts, are believers in exon skipping and believers that the backbone is safe;  regulatory agencies do not have sufficient evidence at this time and are not able/willing to make the leap.
We (and many other foundations) are interested in rare mutations and have offered to support researchers and companies to investigate the possiblity/opportunity and get back to us with a plan.  We continue on this path, offering to do whatever makes sense to accelerate exon skipping and apply it to whatever mutations are amenable (as not all of them will be).  I know Steve Wilton has discussed the N=1 studies and believes he will be able to deliver personalized therapies.   I am also aware that with AVI's new leadership, there is a rallying call to work together with all groups (hoffman, wood, wilton, etc), which is wonderful news.  There are a lot of moving parts at the moment and things swirling.  I am hopeful the next weeks and months, the dust will settle and we will see a concrete plan.

As you know, Exon 51 (gsk) is now in a pivotal trial with a number of exons (prosensa) in safety/dose finding or nearing those studies.   AVI is finalizing the exon 51 safety/dose finding in the US.  As regulatory agencies see data, they will become more familiar and (cross fingers and pray) more willing to 'see the light'.  Please send me your mails.  I will collect them, get them into the right hands with the goal of understanding the plan to address duplications and other rare mutations.

And finally, please do not forget there are strategies that are applicable to every young man with Duchenne. Acceleron/Shire's Ace -031, utrophin upregulation (PTC and potential re-formulation with Summit), clinical trials, Sildenafil, Tadalafil, IGF and more., -the pipeline is not overflowing for sure, but it has improved significantly in the last 5 years and will continue.  I think we can all agree, that there is no one strategy that will EndDuchenne, rather that a combination approach will be essential.  
Please do not put your heart on a single strategy -" if not this, nothing...  " 

Warm regards, Pat

Comment by Char Burke on March 20, 2011 at 12:23pm
Duplication group - if you know any other DMD duplication boys that are not part of this group, please email them and ask them to join.  Also ask them to email and ask her about what's being done on duplications.  Thank you!  Char Burke

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