On Friday, September 25, we met with EMEA (the European regulatory agency) to begin dialogue about accelerating exon skipping. The Steering Committee met on Thursday to rehearse. A small group of us presented and/or analyzed each presentation. We wanted to strike the right tone, provide detailed information about exon skipping and we wanted them to understand this urgent need. At the end of the day, we were energized and ready to go!

We are all aware that both companies Prosensa and AVI are working on exons 51 (Prosensa- 44, AVI -50). What happens next? Will the next exons to be skipped take as long? What about the more rare mutations? Will every chemistry for each exon have to go through the common path of taking new drugs into the clinic? If this is the case for each individual exon, it may threaten the viability of exon skipping. And for our sons, it will take too long. They have no time to wait.

We stayed at a Hilton Hotel on the Thames River. We met at 8 AM and boarded the ferry, crossing the Thames. In fact, it seemed rather symbolic. We were entering new territory. When PPMD was organized 15 years ago, we could only dream about this day.

The meeting went very well. Francesco opened the meeting, introducing AON (exon skipping) as a potential therapy for DMD. Elizabeth Vroom presented the parent’s perspective. Two videos were shown – one of Justus at 4 years old. The video was actually a commercial – the first DMD commercial, donated by a PR firm 15 years ago and filmed on the beach in S. Africa. The second was done several months back. Justus as an adult, talking about outcomes – what would make a difference in his life today. It was striking in so many ways, more than I am able to describe in this short blog. It hit home. The impact, the need, the urgency.

Additional talks included delivery to tissue, results to date, toxicology, regulatory issues, backbone chemistry, trials with small populations and conditional approval.

I wrapped up with this:
The need is urgent.
Doing nothing increases risk for our sons.
Boys, all boys have little time. For the young, we need to save what they have. For the adolescent, we need to protect/preserve what they are losing and for the young adults, we need to hold on and work to restore what is lost in order to improve their quality of life.
We recognize that laws (regulatory and otherwise) are made to protect the masses, but in certain cases, in emergencies (for instance) laws are suspended. The example Elizabeth described was that of an ambulance. Speeding limits are designed to protect all drivers. In event of an emergency, the ambulance is granted permission to ignore the laws in order to protect the individual(s), help with the emergency.
In our lives, DMD is the emergency. Regulatory agencies need to consider what ‘sirens, sounds, lights’ – modifications can/should be deveoped to expedite AON as a potential therapy.

Skipping exon 51 serves only 13% of the boys with Duchenne.
Skipping exon 44 served only 6% of the boys.
Skipping exon 50 serves only 4% of the boys.
Exon skipping has the potential to help approximately 85% of all boys, but to do that in a timely way, we need to expedite the path.

The EMEA was open, interested and willing to consider how to move forward. They ‘got it’. Elizabeth McNeil, MD (orphan products/FDA) was present as well. I am certain she will help us deliver the message in the US.

Progress! We indeed crossed the river.

Ryan has posted the briefing document. We are making small revisions and the final document will be posted.

Download Briefing Document:
Muntoni EMEA introduction.pdf

Download image:
dystrophin exons EN.pdf

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Comment by Pat Furlong on September 29, 2009 at 10:11pm
Keep in mind this was designed to open the door and open minds. Elizabeth mcNeil gets it and AVI is in discussion with FDA. AVI and FDA hit some speed bumps which resulted in clinical hold. They now have new leadership which should make all the difference.
Comment by Ofelia Marin on September 29, 2009 at 5:44pm
Hi Pat, I was wondering if the FDA seems to get it? We are waiting here for animal data when AVI-4658 was in boys for almost a year w/o significant side effects. If they would accept the safety data from the UK trial instead we would not have to wait so long here in the US.
Thank you!
Comment by Jacobs Mommom on September 29, 2009 at 4:50pm
Pat you put everything not only in perspective but so eloquently as ususal. Thanks isn't enough, words aren't enough. Just know that you have all of our admiration and love.

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