Antidote: Pompe Disease

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The film Extraordinary Measures, just released, details the discovery of a replacement enzyme for the neuromuscular disorder Pompe disease. This genetic condition, which is described as uniformly fatal in its most severe form (especially when the onset is in infancy), creates a deficiency of an enzyme that converts stored sugar — or glycogen — to usable glucose. Without that enzyme, the glycogen builds up in the body and damages the heart and other muscles. Patients become confined to wheelchairs, are unable to breathe without assistance, and frequently die from their hearts and livers ballooning up to unworkable size. An awful disease.                 

The biotech company Genzyme should be credited for producing and marketing the replacement enzyme Myozyme, which is absorbed by the cell's lysosome (an organelle, or sac of enzymes, that digests large molecules) and breaks down glycogen to glucose. The company has had production problems, and the cost of the drug is enormous, from $50,000 a year for an infant, up to $400,000 for an adult. Many insurances don't cover it, and there is definitely a problem with access and availability. But Genzyme should be applauded not criticized for the bold initiative and vision it takes to bring an “orphan drug” to market, especially when such problems in doing so exist.                                               

Another hero in the story, in addition to Genzyme, is John Crowley, the venture capitalist detailed exquisitely in Geeta Anand's book The Cure. Crowley, driven by the torturous reality that his two young infants suffered from the disease, created a foundation to raise money for the early research. He currently has a new company, Amicus Therapeutics, that is trying to develop alternative oral treatments.

With all the difficulties in developing the treatment, and all the expense, there is one crucial reality that should not be overlooked. The fact that a frequently fatal lysosome storage disease can now be treated is nothing short of miraculous. The question of who is going to pay for this state-of-the-art treatment should not be lost even as we consider reforming health insurance, but equally as important is to remember to heap praise on John Crowley and Genzyme, without whom this historical accomplishment would not have taken place.

Marc Siegel, MD, is an internist and professor of medicine at New York University and the author of False Alarm: The Truth About the Epidemic of Fear
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