You may or may not have heard Treat NMD has scheduled a meeting with EMEA (European Medicines Agency) or the regulatory agency for the EU. The purpose of the meeting is dialogue: discussion about potentially promising treatments for Duchenne. The discussion will cover a range of areas to include drug development, clinical trials, and outcome measures. Our champions in Congress have written to FDA, urging them to take part in this critically important conversation.

For the last many years we have been hearing about exon skipping and watching with interest as Prosensa and AVI initiated trial with compounds capable of skipping exon 51 of the Dystrophin gene. What an amazing possibility – that by skipping a single exon in the genetic sentence, the sentence would make ‘sense’, would be characterized as ‘in frame’ and with that, a shortened or truncated form of Dystrophin is expressed in muscle. For those boys whose mutation would be ‘in frame’ by skipping exon 51, this is wonderful news. But what about other mutations, where skipping a single exon would result in an in-frame mutation and a shortened version of Dystrophin?

As a community we are all very aware of the long process of drug development and while we are all want/need drugs to be safe, we also know that our sons are running out of time. The meeting in London has been developed to discuss:
- Timelines;
- Modifying the process (the idea of seeking approval for a ‘backbone’ chemistry and less time
consuming /burdensome toxicology studies);
- Questions related to the number of patients required for clinical trials, especially for the less common exons; and
- Agreeing that status quo is improvement in a progressive debilitating condition.

Regulatory agencies will not make decisions during this meeting. We will not come away with answers. What we are hoping is that the regulatory agencies will have a better understanding of Duchenne, of this critical need, and a commitment to work with industry to accelerate the timeline.

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Comment by Pat Furlong on August 10, 2009 at 11:26am
Hello Ofelia, I think the answer is unknown at this point. There is some data to suggest the PPMO is more efficient, but we will have to wait on proof of concept in terms of clinical benefit. You are right this is incredibly expensive and AVI/Prosensa are receiving support (meetings, clinical support, money, academic back-up and political help) from across the community. You are right that the choice of chemistry is critical and it is also woth mentioning that within the 51 trial (for instance) there will be boys who, by skipping exon 51, are expected to (potentially ) expess a truncated/shortened version of dystrophin. BUT also keep in mind, there will be different versions of the shortened dystropin (exon 45-50- skip 51; exon 50 deletion, skip 51, and so on.) and a spectrum of response. Seems there are a lot of moving parts to consider, but the approach has such potential promise. There are still a lot of details to work through. I think we will learn a great deal more in the next few months in terms of plans for moving forward and ultimately, it will take a few years to sort through issues and concerns. World Muscle Society meeting is Sept. 9-12 in Geneva. Typically companies and researchers discuss results, next steps. Some news is coming.
Warm regards,
Comment by Ofelia Marin on August 9, 2009 at 7:35am
When/if meeting with AVI would you please be able to ask them a question about the chemistry they plan to market. They are working on PMO skipping 51 and PPMO skipping 50. Obviously they cannot market both chemistries as a platform drug, no one has money to do that. So what are their plans? When/how will they decide what chemistry moves on? My impression is that, at this point, they just want to obtain proof of principle using money from outside (MDEX, ActionDuchenne, Department of Defense, Charley's Fund etc.) and then find a partner and decide on the chemistry. But for us is very important to know what their future plans are. The choice of chemistry makes a huge difference in timing for those of us waiting for skipping 51.

Comment by JUAN PEDRO ARBULU on August 6, 2009 at 2:42am
Great Pat, I hope you talk about pharmacological issues as Utrophin too, are these shorter in the streamline?
The best for you and your team from all your fans in Peru.
Comment by Jacobs Mommom on July 30, 2009 at 9:41am
You go Pat! and all of the others that are speaking on our boy's behalfs. What you are doing is truly amazing and we are very proud and thankful that we have you in our corner.

Comment by Pat Furlong on July 29, 2009 at 5:54pm
Hi Paul, We are working with Ed Connor from Children's National. Ed's career was focused around regulatory issues and vaccines, so he is quite well versed on seeking approval for a backbone chemistry and (in the case of flu) annual modifications based on the anticipated virus (threat). Timing is an important issue. As you know, to date, there is no proof of efficacy. While Prosensa and AVI have completed (prosensa) or are current invovled in (avi) systemic trials on exon 51, none of the trials will provide efficacy data. So, at the moment, going to fda to lobby about expediting additional chemistries for additional exons, is not useful. Once we have proof of concept on one more perhaps two exons, I think we will be able to make the case to streamline the process. The meeting in September is to initiate the conversation and the rationale, hopefully open minds and opinions. In rare diseases, these conversations will someday become common as these are often progressive conditions with few patients. In addition, as approaches such as antisense and stop codon suppression (ataluren) have the potential to treat, streamlining the process, saving time, preserving function and saving lives will mean regulatory agencies have to change. Duchenne is in the lead (thankfully) and these conversations will be frustrating at times I am certain. But, at the end of the day, it is a new day in Duchenne, we have amazing and potentially life-changing therapies on the horizon. As things move forward, we will work with Dr. Conners and others to organize, develop our agenda/messages and lobby to accelerate drug development/clinical trials and of course ACCESS to therapies for all.
Warm regards,
Comment by Paul Cliff on July 29, 2009 at 5:38pm
Good luck with that. This reminds me of a question I've had in my mind for some time: when and how can the PPMD membership lobby the FDA for it to make the best decisions on these same issues?
Comment by Ian Anthony Griffiths on July 29, 2009 at 4:19pm
Good luck at the meeting!

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