Two weeks ago, I was invited to present the story of Duchenne muscular dystrophy to Acceleron’s partner, Shire Pharmaceuticals. I walked in the door to find myself surrounded by the word “BRAVE.”  Brave is Shire’s approach, describes their commitment to rare disorders and their view of individuals with rare disorders.  “Brave” was on desks, next to photographs of patients, “Brave” was on walls, with descriptions of rare conditions.  “Brave” was the character of the people on Shire’s team. Some had definitions or quotes related to the word “brave” on Post-It notes:  the definition of brave (possessing or displaying courage). Quotes from Brad Henry: "Let us be bold. Let us be brave. Let us be together". Quotes from Nelson Mandella: "I learned that courage was not the absence of fear, but the triumph over it.  The brave man is not he who does not feel afraid, but he who conquers that fear".    

We have so many mixed emotions as we watch compounds move through the development process and partner, often worried that adding partners, new members of the team, may slow things, dilute the passion of the founders. Every person on the Shire team was impressive, dedicated, responsible, passionate – Brave. 

Because the One Voice Advocacy Summit was just around the corner, I spent the next few days in the New Jersey office working with the team. In so many ways, it felt like planning a wedding, working on small details, connecting with panels, ensuring a range of opinions and ideas – big ideas for Duchenne.  

On Friday, February 11, I was off to Washington, D.C. to meet with the National Organization of Rare Disorders (NORD) team and later with Susan Sweat.  Saturday was spent working with the patient/family panels which would set the stage for every panel included in the One Voice Advocacy Summit. Sunday’s advocacy training went well.  Susan Sweat characterized meetings and assured us that every voice counts.  Clearly, with a $192 million investment in Duchenne over the last 10 years and the ripple effect of $1 billion from Industry, it was pretty clear that Advocacy is a critical piece for success.

The One Voice Advocacy Summit was full of big ideas with a single focus – advancing care and developing treatments for Duchenne muscular dystrophy.  As we looked outside the Newseum, we could see the Capitol, a reminder of that day in 2001, when Senator Specter and the late Senator Wellstone opened the hearing with “we are here on behalf of Parent Project Muscular Dystrophy”, initiating the dialogue about what could and should be done for Duchenne.  Now, 10 years later, the conversation is different.  We were not just gathered on behalf of PPMD, but on behalf of the dozen or so groups in the Duchenne community that stand for the same mission we stand for: ending Duchenne. We are discussing clinical trials, outcome measures,  regulatory hurdles, and how to ensure access to therapies.  We are a community of believers, all of us together, that Duchenne muscular dystrophy will soon be a treatable condition.

I flew home for two days, enough time to remind Tom that I still lived on Marymont Court (!), spent some time with my mom, did the laundry, and re-packed for Italy. Filippo Buccella had invited me to chair a session and to speak during his annual meeting. Highlights from the meeting include:

• Annemieke Aartsma’s presentation and discussion about progress to date in exon skipping trials. She does not believe we should be concerned about an immune response to revertant fibers as there has been no evidence of rejection of the dystrophin expressed to date.
• Dr. Cossu talked about progress to date in advancing clinical studies, planning an  intra-arterial delivery of mesoangioblasts, currently working on collecting quantitave data on muscle testing.
• Justin Fallon discussed biglycan and progress to date with the goal of a pre-IND in 2011.
• Bas Blits from AMT projects a clinical study in 2013, which will focus on U1 delivery to the heart (exon skipping in the heart).
• Giles Campion, Prosensa’s Chief Medical officer brought us up-to-date with clinical trials underway. Exon 51 in a Phase II and pivotal study. Prosensa/GSK intends to expand clinical sites, posting on clinicaltrials.gov when a specific site is finalized. Compounds for skipping exons 45 and 53 are expected to start in dose ranging trials in 2012. The other compounds for skipping exons 52 and 55 are expected to start in dose ranging studies later than 2012. 
• Mauro Ninci from Genzyme presented data from the ataluren study, suggesting Genzyme expects to make a decision by March 2011. 
• Eric Gorenstein and Ken Attie joined us from Acceleron and Sonia Messina talked about the Flavocoxid trials underway.
• Finally, Dr. Emilio Clementi  discussed the potential of using LVAD (left ventricular assist device) in Duchenne, writing guidelines about how and when this device might be utilized.  Cardiac devices in Duchenne-rational, use, effect, and timing for the intervention is extraordinarly complex and we will need to learn a great deal before we are sure about what to do and when.

Filippo asked me to talk about the community. My points essentially were:

• Patients/family/foundations change the world – it is the only way
• Patients/family/foundations plug in money at critical moments to move things forward
• Patients/family/foundations include the global community, understanding that every individual diagnosed with Duchenne needs an accurate diagnosis, access to optimal care, the opportunity to participate in clinical studies and treatments, to access a life and reach for their dreams.

The breath of work going on in Duchenne is amazing and the bravery of this community crystal clear. 

My own bed felt pretty good last night…