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Health Team

New movie sheds light on Pompe disease

Posted January 13, 2010

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— The film “Extraordinary Measures,” which opens in theaters next week, is the story of a father searching for a life-saving drug for his son who suffers from Pompe disease, a rare genetic disorder.

In Pompe patients, the blood lacks an enzyme that breaks down glycogen. The glycogen collects in muscles, including the heart, and weakens them.

“Children who present with it are very severely affected within the first couple months of life,” said Duke Hospital pediatrician Dr. Priya Kishnani.

New movie sheds light on Pompe disease New movie sheds light on disease

Most children with Pompe die within the first year, Kishnani said.

In the film, John Crowley (played by Brendan Fraser) recruits a scientist with a lead on a new drug. The scientist (played by Harrison Ford) starts his own biotech company to begin trials.

In real-life, the drug was not developed by Crowley and his company. The drug was developed at Duke University Medical Center by Dr. Y.T. Chen in the animal laboratory. Kishnani helped bring the drug to humans.

“It's like providing insulin to a patient with diabetes. For someone with Pompe disease, it's providing that missing enzyme,” Kishnani said.

Abby Phelps has an adult-onset version of Pompe. Four years ago, she was among the first adults in a clinical trial to receive the drug Myozyme.

“It’s been like a miracle. I was on oxygen 24 hours a day,” Phelps said recently.

The genetic disorder has also popped up elsewhere in her family tree. Phelps’ second cousin’sson also has it.

Dakota Bridge's older brother, Mason, died of Pompe at 7 months old. While still in the womb, Dakota tested positive for the disease.

Just before Dakota’s birth in 2006, the U.S. Food and Drug Administration approved Myozyme.

“He was able to get it at 2 weeks old,” Dakota’s mother, Dina Bridges, said.

Four years later, with biweekly infusions, Dakota is living a normal, happy and active life.

Current research is focused on gene therapy to help the body to produce the enzyme on its own. It's that kind of hope, Kishnani says, that makes the movie so timely.

“One couldn't have asked for more in the situation to raise awareness,” Kishnani said.

Kishnani also hopes the movie will prompt more states to include Pompe disease testing in newborn screening, so children may be treated early. New York and Illinois are the only states that currently test newborns for the disease.

8 Comments

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  • TriangleMommy Jan 14, 6:37 p.m.

    Having met a sweet, precious little girl affected by Pompe I am so grateful for the treatment, otherwise she would not be here today.
    Glad for movies like this that bring awareness.

  • manofjustice Jan 14, 12:18 p.m.

    I would become a vegan if fried chicken was a vegetable. I try to eat healthy but I just love my fried chicken and cheeseburgers and chitlins and hog maws and fresh pig killed sausage and bacon and pig bottom and hog head cheese. Other than eating that stuff I eat pretty much healthy stuff. It always does my heart good when I hear of stories like this. I hope these kids get the help they need. They are our precious future.

  • White Eagle Jan 14, 10:58 a.m.

    Bottom line on all this is the research was conducted in animals and the "cure" tested in animals before is was adapted for use in humans. For all the PETA folks, explain to me how this would have been accomplished without doing the research in animals.

  • tomfraites Jan 14, 9:22 a.m.

    With all due respect to Dr. Kishnani, the characterization that "In real-life, the drug was not developed by Crowley and his company. The drug was developed at Duke University Medical Center by Dr. Y.T. Chen in the animal laboratory. Kishnani helped bring the drug to humans" is way overstated and way too simplistic. A more accurate and balanced account can be found in the book, "The Cure," by Pulitzer Prize-winning reporter Geeta Anand, on which the movie is based.

  • Not a monday morning quarterback Jan 14, 8:38 a.m.

    I personally know the workers "behind the lines" that play such an important role in detecting this disorder. I am so proud of you guys, and though you are humble, this article is proof that what everyone does at the lab is helping save lives. Keep up the amazing work!!

  • witmasta Jan 14, 8:26 a.m.

    Mocena- hilarious. Good for you pointing this out. I am so tired of the new age, repeat blindly, go shop at whole foods rhetoric.

  • mocena Jan 14, 8:19 a.m.

    Animal Lover- The enzymes you are talking about are not the same enzymes that they are discussing in this article. Completely unrelated, in fact.

  • CestLaVie Jan 14, 8:14 a.m.

    This is great news. Reminds me of the movie, Lorenzo's Oil, where a parent adamantly found a cure for her own son.

    Enzymes are pretty important stuff for our bodies. A diet of mostly cooked foods does not support good nutrition because the enzymes are destroyed by the cooking process; these are the very enzymes our bodies need. Eating mostly fresh, organic veggies & fruits does the most good to support enzymes.