On any given day, all of us can site ‘things coming together’ to achieve a certain goal.
  • Landing on the moon
  • NASA International Space Station
  • Haiti
  • Trapped miners in Chile
  • Air Traffic Control around the world
  • UN (ok we could have a long discussion about efficiency, effectiveness, and benefit but nevertheless, an extensive collaboration)
  • Identifying the Dystrophin Gene
  • MD-CARE Act 2001
  • MD-CARE Act Reauthorization
  • Care Considerations
The list of achievements when people come together is immense and stretches (I’m guessing) from the Earth to Mars and back several times. And in the case of examples such as the moon landing and the miners in Chile, these are actually engineering problems, certainly with variables, but to some degree predictable with complex algorithms, brilliant engineers, and Star Wars technology. Chilean miners survived because they were able to engineer a lifeline and once stabilized, had some time to figure out the rest.

In Duchenne, there are any number of variables and few algorithms to predict the intricacies of the Duchenne gene, the complex interaction in all human cells, and the impact of other factors – psyche, spirituality, environment, chance. First, there are many foundations, organizations, individuals, companies, governments concerned about Duchenne and about rare disease. We should all be thrilled and grateful. Some have a specific focus in terms of basic science (understanding the biology of Duchenne, which is incredibly complex and unknown); to understanding what optimal care looks like, what interventions would help, at what age and under what circumstances; to drug development (which depends on understanding the biology); to biomarkers (what proof will we have that something works and how will we know); to outcome measures (how to understand improvement in a progressive/degenerative condition); to treatments (what works, what does not, how will we know); to alternative therapies (click here to read PPMD's recent statement regarding alternative therapies); to individual variation in disease course; and the list goes on and on.

So, if we all came together and focused on one area, what would it be? The answer may depend on a certain child, a certain concern, a certain belief in an emerging therapy, a certain philosophical view (newborn screening, stem cells: adult-derived or embryonic, etc.) or some other idea. And for some individuals or foundations, things change and what they do may change as the disease changes and priorities /needs change.

For me, the good news is that the investment in Duchenne has dramatically increased, that biotech and big pharma is onboard, that the US government (and other governments are interested – a sort of UN for Duchenne is forming), that some of us focus broadly (basic science, drug development, improving care/treatment, biomarkers, outcomes, regulatory, insuring access, advocacy), while others are focused on a certain niche. BUT–and this is what is so wonderful about this community– when we see a place where collaboration would be useful /helpful to move collectively, we do. Examples include support for meetings, conferences, clinical studies, workshops, biotech, industry, advocacy, and so much more.

It is easy to imagine that if we all come together we would have a cure sooner. This is not certain because of the many complexities of Duchenne across the spectrum of the disease. But, if all of us do something, the collective effect is BIG. Today, rough guesstimates of investment in Duchenne are in the billions of dollars. Pretty impressive!

I wish Duchenne was an engineering problem but it is a human problem, characterized by the amazing capability of cells, interacting with billions and billions of other cells, sending messages and triggering effects. Think of the impact of steroids… and we are just capturing natural history with steroids to learn the impact, how the disease has changed. Before steroids, boys went off their feet at 8 +/- years of age. With steroids, some continue to walk in their teens. Steroids has expanded the variability of Duchenne. We still do not understand exactly how they work. We all agree, steroids impact the immune response. Some think steroids stabilize the muscle membrane. Some think steroids upregulate utrophin. Maybe it is all that and more with obvious and significant variability. There are some boys who do not respond to steroids. Why the variability? Does it depend on something in the immune response? Is it related to genetic mutation? And what do we know about certain mutations other than the in-frame/out-of-frame rule that works, except when it doesn’t? What do we know or need to learn about the various parts of the dystrophin gene, for example the ‘hinge’ region? And think of the recent paper from Jerry Mendell, suggesting that some boys have an immune response to dystrophin and some do not. We need to learn a great deal more about this as we test Ataluren, AON, and gene therapy approaches. And what of the paper from Salvatore, talking about mutations in the area of 45-55 and what we are learning or may learn about ‘in-frame’ and the potential benefit/risk of skipping certain exons? Think of the recent sudden deaths – the fall, fracture and following loss of one of our beautiful young men. We think the heart developed an sudden abnormal rhythm and failed. How will we learn what happened, what rhythm? Who is at risk? How will we know? What do we need to do? And what if the therapies are expensive? Will insurance cover? How will boys on Medicaid, especially in struggling states access? How will boys all over the world who have limited or no access to sequencing (diagnostics) or care and potentially never to therapies – how will we help? And consider if we need large numbers for clinical trials in a precise cohort (age x-y, walking…) how will we find sufficient numbers to participate in all of these trials (required to power a given trial and essential to prove benefit) in order to get to approved treatments?

These questions are not to overwhelm. They are just to point out the enormity of questions left to answer in this disease. Which is why collaboration is essential. All of our individual voices turning to the gifts and talents of this community and then answering the big questions as ONE VOICE.

In looking at what needs to be done, recognizing the enormity and scope of our ‘moon landing’, it feels good that we are all able to connect, able to applaud differences, and can be thankful for investments across a broad range of relevant and important projects. It feels good that we are a community – with all of our faults, with all of our own human experiences and baggage to contend with, all of us doing something to help.

And in a similar approach to the Chilean miner rescue, we have established the lifeline and are working to improve it (diagnostics,
care), while we figure out the rest (biology, drug development, access).

There is no foundation, organization, academic institution, biotech, pharma or any individual that is doing something better or of more value. It is all pieces of the pie, building blocks to treatment. No one organization, person, company has the ‘ticket’ to the cure or the ‘ticket’ to get in trials. This is a big job and there is a place for everyone who is willing to help. Duchenne is hard, complex, fascinating, and heartbreaking. But this community is unstoppable. We are making progress.



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Comment by Misty VanderWeele on October 23, 2010 at 12:35pm
Pat, yes I agree with buying time, this is what I am trying to do everyday with my son...THANK YOU for pointing out all that is going on in the world of Duchenne it is impressive for sure...There is a big difference between Pompe and Polio but I am sure Parents would do anything if we could have one endorsed and viable treatment for Duchenne with or without a cure. On a side note...feels wonderful to be making progress. ♥Misty
Comment by Steve Dreher on October 22, 2010 at 9:46pm
Hi Pat, thanks for your post. It may be too much to imagine that there is a silver bullet that will solve DMD, but as you imply in your past, we made it to the moon - when we put our best minds and enough resources toward a problem, we're usually able to solve it. In my humble (and biased) opinion I don't think we've put our best minds or enough resources to solving the problem of DMD.

Everything about us, as physical beings, is complex. Unfortunately, the list of things that medical science doesn't understand far longer than the list of things we do understand, it doesn't matter what disease you're talking about. It's terrifying to think about, especially because I don't see a lot of humbleness in the medical profession.

All of that said, there are a few very good minds (and souls) working on this. I hope we can come together as a community and support that work with everything we've got.
Comment by RAKTIM SINGH on October 22, 2010 at 8:17am
Thanks Pat for this wonderful article. You have beautifully summed up the relevance (and may be the need) for multiple duchenne groups and the how each one can help in solving this big Duchenne puzzle(Having so many moving parts).

I had one feedback here. At many times in a year, we see various voting contests (Like Chase Community Giving/Pepsi giving…)getting organized which can help Duchenne community win money. I see that also as one area of Collaboration.

I am sure our Duchenne community numbers are big enough so as to win many of these voting contests. ( And each one of us will love to vote so as to win the money which can help Duchenne research). May be Collaboration in this area can help the Duchenne community to get much more dollars for Duchenne research.

Raktim

Staff
Comment by Pat Furlong on October 22, 2010 at 7:47am
Thanks Misty. I agree we will get there. But just so we are all understand, Polio and Pompe are also complex disorders and certainly very different from DMD in terms of approach/complexity/biochemical pathways.. Polio is prevented (not cured) and enzyme replacement for Pompe slows the degenerative process. Similar to Chilean miners -giving a lifeline while we figure out the rest. For me, it is all about buying time, until you are able to promise a lifetime.
Kind regards, Pat

Staff
Comment by PPMD on October 21, 2010 at 3:13pm
CORRECTION: Here is the link to Salvatore's paper that Pat meant to reference: http://onlinelibrary.wiley.com/doi/10.1046/J.1469-1809.2005.00160.x...

Sorry for the error!
Comment by Ofelia Marin on October 21, 2010 at 2:53pm
Oh, I have that one, thanks!
Comment by Misty VanderWeele on October 21, 2010 at 2:53pm
Incredible PAT...You are always one step ahead, you answered a ton of my questions that was in a video I posted the other day. I know Duchenne is hard but I refuse to believe it is too hard to get there. I mean look at the Extraordinary Measures movie or even the cure for polio.

♥Misty

Thank you for all you are doing for the Duchenne Community...we wouldn't even have nearly what we have in the area of research and treatment development without your continued efforts :-) You inspire me to keep on keeping on!

Staff
Comment by Pat Furlong on October 21, 2010 at 2:35pm
Ofelia, My mistake and I apologize for not checking my references. I had Kevin Flanigan in my head and actually it is Salvatore's paper. We will post the paper on the ppmd site.

Staff
Comment by Pat Furlong on October 21, 2010 at 2:24pm
Send me an email and I'll forward a copy. (pat@parentprojectmd.org
Comment by Ofelia Marin on October 21, 2010 at 2:04pm
Can you please post the title of the paper from Kevin Flanigan talking about mutations in the area of 45-55? Thanks.

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