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RETT SYNDROME RESEARCH TRUST WEBSITE

John Crowley’s life was bright: a recent MBA from Harvard Business School, a young family, and a blossoming career…the world was his oyster. And then John and Aileen received the shocking news that their toddler and newborn were both afflicted with Pompe Disease, a fatal neuromuscular disease. John’s fearless actions as he fights to save his children’s lives are portrayed on the big screen  in the new film by Tom Vaughan, Extraordinary Measures starring Brendan Fraser, Harrison Ford and Keri Russell.

VOTING OPPORTUNITY TO HELP RETT SYNDROME RESEARCH

The Extraordinary Measures website is highlighting video stories of hope and inspiration. One video will win $10,000 from CBS Films. Please visit and vote daily for “Reverse Rett Syndrome – Give Our Girls a Voice.

Below is an excerpt from a recent conversation between RSRT Executive Director, Monica Coenraads and John Crowley, currently President and Chief Executive Officer of Amicus Therapeutics.

Visit the Crowley Family Website

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MC John, congratulations on the movie. As can be expected, news of the film and your story have already attracted attention in the special needs community.  Your spectacular success inspires all of us who are dealing with rare childhood disorders. For me personally, the key message of the film is that parents can be instrumental in helping to move the science forward.

Let’s go back to when you and your wife received the diagnosis. Megan was a toddler and Patrick just a newborn. Many of the readers of this blog know how it feels to be hit with a terrible diagnosis. Was your first step to approach existing Pompe organizations or medical centers? How did you go about gathering information and how were your questions received?

JC This was in March of 1998 and the internet was a pretty new phenomenon but that was the first place we went.  We learned of the small but dedicated group of researchers around the world as well as numerous Pompe families that shared a lot in common with Aileen and I.  We were surprised by the abundance of information that was out there. We quickly realized that it fell on our shoulders as parents, more than anyone, to collect and to synthesize the scientific data as well as the clinical information that was available.

MC Your accomplishments bring to mind some parallels with another non-scientist father who advanced research— Augusto Odone, the father portrayed in Lorenzo’s Oil. In my conversations with  Mr. Odone a decade ago we shared our common experiences in being repeatedly told that parents cannot drive the science. What kinds of difficulties did you encounter as you decided to move forward on your own?

JC At times we were viewed as interfering with the established plans that some people had. We didn’t pay much attention to that. We felt that we could only add and not detract from the debate as we pushed for treatments for Pompe.  I was surprised by the competitive nature of academic research and the lack of communication and coordination between the different efforts. I don’t think that is something you can fix but you can incrementally improve the situation.

MC Academic research is indeed competitive; on the other hand, it’s the very nature of that competition that often yields progress and results. Do you think that as an advocate with a personal mission, your background in business and law has been a greater asset, actually, than if your degrees had been in science?

JC I think so. You don’t have to be a scientist to run a biotech. In fact most CEOs of biotech firms are not scientists, but business people and they bring a different skill set.  But you must possess the ability to understand and articulate your science, and your technology and your disease area as well as a Ph.D. or you will not have credibility. That was a steep learning curve for me.

MC How do you think the urgency that only a parent of afflicted children can bring to bear has impacted drug discovery efforts for Pompe Disease?

JC I think the science would have gotten there eventually but I believe that Aileen and I accelerated the timetable quite a bit by bringing focus to the existing resources as well as bringing additional resources to the table.

MC How important a role does public awareness or lack of awareness of a certain disease play in drug discovery?

JC We got approval for a treatment for Pompe without many people in the US knowing what the disease is. What I do think is hugely important however, is increased awareness about rare diseases in general. There are 7000 rare diseases that collectively affect over 30 million people. That is more than everyone who suffers from all cancers and AIDS combined. So taken together these diseases are not rare at all – in fact they are remarkably prevalent.  While the symptoms and severity of these rare diseases may vary, there are commonalities with regards to a framework of development for novel therapies that can and should be applied to all these disorders.

MC That’s an excellent point. Single gene disorders like Pompe Disease and Rett Syndrome give scientists the ability to work out the biology of a disease, which can sometimes be applied to more common disorders where the underlying cause is unknown.

JC I agree. I believe that rare diseases will unlock cures for a whole host of more prevalent diseases.

MC What role do you think research foundations run by people with a personal stake in the disease play in drug development?

JC They play a very critical role.  Research foundations absolutely accelerate the timeline to drug development.

MC I think one reason their role is so critical is that they often fund a different caliber of research. They are often less risk adverse and therefore willing to support projects that more conservative funding agencies, like the NIH, won’t touch.

JC I completely agree. The Cystic Fibrosis Foundation, as the prime example, puts hundreds of millions of dollars into cutting-edge research. The result is thirty drugs in the pipeline.

MC Let’s talk about the science, and your perspective on future developments for Pompe.

JC We have small molecule chaperone technologies in the pipeline at Amicus Therapeutics, the biotech firm where I am CEO. We are looking at monotherapy as well as combined approaches with these chaperone drugs in conjunction with the existing enzyme treatment. Furthermore, there are several next-generation enzyme replacement therapies at various companies. There are also gene therapy studies that we hope to get underway this year.

MC What are some things you know now about drug discovery that you wished you knew 10 years ago?

JC The list is too long. I’m glad that 10 years ago I didn’t know what I know now because I probably wouldn’t have taken the risks that I did!

MC Your kids must be very proud of you. Have they seen the film? How are they doing?

JC We saw the film together a few weeks ago. They are very excited. Megan and Patrick still have remarkable special needs but they also have remarkably special gifts. Megan just turned 13; Patrick will be 12 in March. Megan was able to blow out her birthday candles. The fact she could do that while on a ventilator is a gift, let alone the milestone of reaching her 13th birthday. The enzyme replacement medicine that we helped to discover, and which they have been taking for almost 7 years, stopped and reversed the life threatening enlargement of their hearts. They are still ventilator-dependent and in wheelchairs but the quantity of years and quality of life that the medicine bought us is extremely valuable.

MC Megan and Patrick are very lucky to have you as their father and their advocate.

You are played by Brendan Fraser in the movie. I actually knew Brendan when we were kids, because I was good friends with his older brother Kevin. The Fraser family lived in Holland as I did at the time and we attended the American School of The Hague. I lost touch with Kevin when I moved to the States, but perhaps you’ll intercede with Brendan and help me get to get back in touch with Kevin.

JC I’d love to.

MC John, thank you so much for taking the time for this conversation. We wish you continued success and look forward to updates as the work progresses. I can safely speak for the entire Rett family community when I say that your story inspires and lifts us.

JC Thank you, Monica. I hope that the film helps to raise the collective awareness of rare diseases and the struggles of families around the world.

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