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Baby Steps

Here's what the week looked like for me. On Monday I attended the Muscular Dystrophy Coordinating Committee meeting. As a reminder, this committee (MDCC) was created because of the MD CARE Act. The MDCC was charged with writing a comprehensive research plan for the muscular dystrophies. http://tinyurl.com/53g7sy
Presentations centered around investments in research, translation, clinical trials and burden of care. Understanding Burden, or the financial/emotional cost is essential in order to incentivize industry to develop therapies and to convince insurers that expensive therapies are cost effective when compared with disease burden. Amazingly, in a time when the NIH budget is very tight, the NIH has increased investments in DMD.

I am thankful to all of you for your help on the ReAuthorization of the MD CARE Act. We have crossed the 100 mark in terms of co-signers in the House and 22 Senators onboard. If the stars line up, this legislation will come out of Committee (HELP committee in the Senate and Energy and Commerce on the House side) and be sent to the Floor for vote during this Congress. If you haven't connected with your representatives, please do. If your representative has signed on, send them a note of thanks. Message can be really short/simple: It's Wednesday, thank you for your support of the Re authorization. It means so much to all of us.

Yesterday, I met with Carl Gist from Congressman John Barrow's office. Carl was wonderful and very supportive and hopefully Mr. Barrow will soon sign on. If you are from Georgia, please let them know you care about this. Also met with Sarah Bittleman from Congressman Darlene Hooley's office. Sarah was wonderful as well. If you live in Oregon, send them a note as well.

Today, I'm on my way to Philly. We have the virtual roundtable this afternoon.

Tomorrow, I'm meeting with a small committee to talk about 'google alerts', the laundry list of approved drugs what we might do as a community to accelerate our understanding, figure out if the evidence (mouse data) is sufficiently convincing or if the experiments need to be repeated in larger animals. It is so difficult to receive 'google alerts' every day about 'maybe something will have benefit' and not have a path to determine specifically 'yes' or 'no'.

Working to EndDuchenne for every boy/young man...

Pat

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Comment by Carolyn Morrison on July 13, 2008 at 1:42pm: Pat,

thanks for always being there when we can not! We can make a difference for our generation of boys! So sorry to miss the conference this year, I am in Germany doing Army Reserve duty.

Carolyn (MomofJohnJohn)

Staff Comment by Pat Furlong on June 28, 2008 at 5:03pm: Comment from Peter OHanley (AVI Biopharma)

If not, be certain that AVI is committed to moving its DMD drug product candidates forward in clinical studies.

AVI is supporting an exon 51 PMO intramuscular study in the UK with Dr. Muntoni to assess the ability of a specific antisense to produce de novo dystrophin in non-ambulatory DMD boys amendable to skipping exon 51.

AVI has submitted and hopes to initate a systemic exon 51 PMO study in the UK within 3Q 2008 with Dr. Muntoni.

AVI has had correspondence with the FDA and believes that it know has clarity to proceed with systemic exon 51 PMO clinical trials in the US. It would be hoped that such a study could begin in 1Q 2009.

AVI has submitted a pre-IND to the FDA for a systemic exon 50 PMO study for US-based clinical study. We await FDA responses to this unique application utilizing a different PMO modality.

Comment by Paul Cliff on June 27, 2008 at 5:18pm: Pat,

Thanks again for all that you do. This and everything else.

Staff Comment by Pat Furlong on June 27, 2008 at 7:50am: I worried my answer may have been confusing. Trying again. Both companies (Prosensa and AVI) have plans to skip specific exons to include 51 (in progress), 53, 50, 44 or 46, 45 and so on. The exaxt timing is unknown based on a few factors: data from trials, regulatory agencies, efficiency of the protein produced and toxicity. I hope this is more clear AND will post Lee's comments over the weekend.
Pat

Staff Comment by Pat Furlong on June 27, 2008 at 12:27am: Hello Paul,
I think there is some misunderstanding. Deletions at exon 44 may well benefit from exon skipping strategies. What Lee was saying is that skipping a single exon is very possible. I think he was referring to the current Prosensa trial, skipping exon 51, suggesting we need to wait for the analysis of the trial AND for the AVI biopharm trial in planning stages. There are plans in development by both companies to skip additional exons such as 53, 44 or 46, 45, etc. I think what he was suggesting that the absolute path forward (in terms of what chemistries/exons will be trial and when) is not well defined at the moment and that data from early systemic trials will need to be analyzed. Data such as dose and regimen; biodistribution (did it get to every muscle and in sufficient quantity to improve function) and toxicity (adverse effects). These next few years of clinical trials will provide this information. Companies involved are currently in discussion with regulatory agencies in an effort to figure a way to rapidly accelerate clinical testing across a variety of mutations.

I hope I have not added to your confusion. I will ask Lee to comment over the weekend and report back
Warm regards,
Pat.
Warm regards,
Pat

Comment by MarcosDad on June 26, 2008 at 12:31am: Yes. The roundtable was very insightful and a good way to get the information out. Thank you.

Comment by MarcosDad on June 26, 2008 at 12:29am: Paul,

I was at the round table too and I thought I heard him say that a deletion of exon 44 cannot be addressed by skipping a single exon. When I looked at his chart he had on the slide it looked like if you skipped 43 or 45 it would put it back in frame and I was puzzled. You may want to email Pat directly to ask about that since it could have been a misunderstanding of the question since we were typing the questions in a very small chat box.

Comment by Paul Cliff on June 26, 2008 at 12:17am: Ms. Furlong,

Thanks for organizing this evening's roundtable. Please allow me to add one more to the avalanche of follow up questions you're no doubt receiving. I may have misunderstood, but Dr. Sweeney seemed to say that exon skipping was unlikely to benefit boys with deletions at exon 44. Do you know whether he was referring to whether the drugs in trials which target exon 51 would be ineffective for boys with deletions at exon 44, or whether he was saying that there was no exon skipping strategy likely to affect people with deletions at exon 44? If it’s the latter, then that would be different from what I’ve heard elsewhere that skipping exon 45 is likely to benefit boys with deletions at exon 44.

Comment by Kim Innabi on June 26, 2008 at 12:15am: You are amazing! Thank you so much for everything you do.

Kim

Comment by cheryl cliff on June 26, 2008 at 12:06am: Your hard work is extremely important, thank you for making the lives of duchenne boys and families healthier and more sane.

cheryl