The Race Isn't Over

John Crowley talks about what's needed in the "golden age" of drug development

Article Highlights:
  • John Crowley has two children with Pompe disease, and successfully lead a quest to develop Myozyme, a treatment for this life-threatening disease. 
  • A major motion picture starring Harrison Ford, Extraordinary Measures, is based on the Crowley family story.
  • In this interview, Crowley talks to other families coping with neuromuscular diseases about what it takes to find treatments and cures.
by Tara Wood on December 31, 2009 - 1:19am

QUEST Vol. 17, No. 1

John Crowley is the father of two children with Pompe disease (acid maltase deficiency). His quest to develop a drug to save their lives is chronicled in the movie "Extraordinary Measures," to be released by CBS Films in January 2010.

Crowley was interviewed for the Quest article "Heroes, Hope & Hollywood."  Below are more of his thoughts on the "golden age" of drug development and how families coping with muscle disease can help speed the way to treatments and cures.

On why the film "Extraordinary Measures" is important

As all [Quest] readers know, life with neuromuscular diseases can be incredibly trying at times. But you have to realize that it is one day at a time, you have to live in the moment and enjoy it.

That’s why the film "Extraordinary Measures" is important, particularly how they have portrayed us all. At the end and throughout there are many, many moments of joy, just as there are in our family. We’re a very different and special family from what I guess is an average family in America. But in many respects I think we’re also incredibly normal. 

On why the battle to defeat Pompe disease isn't over

When we pressed that infusion button in January of 2003 and finally got the medicine flowing to the kids — and a couple of months later when we got the early results that it was having an impact — I guess I figured we were done. The race was over. And then we realized that it's not.

Medical innovation is almost always a pretty lengthy and involved process. It's incremental steps in improvement. Rarely is there the magic bullet that cures a disease. It’s always two steps forward and one step back in research, and it takes years and decades until you get to a true cure. The medicine the kids have now [Myozyme] is not a cure. It’s a treatment that extended and enhanced their lives. But it's exciting to look out and see how many therapies are on the horizon just for Pompe.

When I look out at five, 10 or 20 years from now, at all the therapies in development, it’s really an exciting time — almost the “golden age” of medicine. We just have to make sure we continue to drive that innovation and risk taking.

On how the MDA community can direct its efforts in the quest for treatments

There was such a burst of activity in the decade or two after the Orphan Drug Act [passed by Congress in 1983], and now that’s largely subsided and we need to restart that.  We’ve got to have better ways to do these clinical studies, and faster. Together as community there is so much we can do, in addition to what you can do for your particular disease of interest, or even just your particular child or family member. More than anything don’t ever give up hope. 

On his vision for the future of drug development, and the challenges for creating treatments for specific diseases

Each disease is unique and some are more complex than others. Duchenne muscular dystrophy, for instance: That is a very complex protein and an enzyme replacement therapy is not going to be of benefit. I think that for any of these diseases – even Pompe – there’s not going to be one treatment that provides the answer. As we understand the human genetics and the human genome better and personalized medicine — and why some people respond to therapeutic approaches and why some people don’t — I think it will lead to a number of different technologies and therapies that someone will take.

My dream is that these diseases are easily diagnosed, they’re diagnosed in utero or as early as possible, and then they’re treated and maintained as chronic conditions with minimal to no physical impairment and suffering. I think that’s how they’ll be treated, almost like we treat AIDS today.

On mobilizing to achieve results 

[With AIDS] you had millions of people rising up around the country and driving pharmaceutical companies, research companies, driving the NIH [National Institutes of Health], and driving the FDA [Federal Drug Administration] to make a change.

We need that same level of urgency that the AIDS community executed so beautifully in the late 1980s and 1990s that has led to that disease being effectively cured today. I think that’s the common theme across all of these diseases and that’s something very important to keep in mind.

On spurring drug development for orphan diseases, which by definition affect small populations

Remember that there are 7,000 rare diseases, and taken together they affect — just in the U.S. — more than 30 million people. If you take all those people together, that’s more than the number of people that suffer with all the cancers and AIDS combined. Taken together that is a very powerful voice, and not so rare after all.

We need to think individually for each disease, but also more broadly as a disease community or communities. Where are the gaps and how can we bring that fierce sense of urgency that tomorrow is not acceptable? What can we do today?

On what he’s working on at Amicus Therapeutics

We’re using a whole new series of technologies: small molecule pills known as pharmacological chaperones that are designed to target and enhance a patient's own defective enzyme. We’ve had studies (we have a phase 3 study now in a genetic disease called Fabry disease) and we have an investigational drug in early clinical development for Pompe disease. We also have exciting programs in diseases of neurodegeneration. There’s a lot of hope that potentially many dozens or hundreds of disorders may be amenable to treatment with pharmacological chaperones.

We’re excited about this technology, but it’s one of many exciting potential technologies in the field of human genetic diseases. So hopefully the learnings from what we’re doing will translate into a better understanding of human genetics and may yield the next discoveries in a range of neuromuscular diseases as well.

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