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Lethal genetic muscle disorder corrected using enzyme therapy
By Bijal P. Trivedi

Doctors announced that they are able to treat a lethal genetic disorder called Pompe's disease by giving the patients an intravenous supply of the missing enzyme alpha-glucosidase, which their bodies are unable to produce. The researchers, from Sophia Children's Hospital and Erasmus University, both in Rotterdam, presented their work at the annual meeting of the American Society of Human Genetics in Philadelphia.

Pompe's disease is caused by a buildup of large quantities of glycogen in the heart and muscle cells that progressively breaks down the muscle until there is little healthy tissue remaining. In a short video segment during the presentation, physician researcher Ans van der Ploeg showed babies with the infantile form of the disease; their bodies were like rag dolls and they were completely unable to raise their heads or legs. The infants usually die of respiratory and cardiac failure within the first year, without ever being able to roll over or sit up. Onset of Pompe's disease during childhood or early adulthood destroys skeletal muscle, causing weakness in the limbs and requiring use of a wheelchair, and eventually, a ventilator, as the person becomes incapable of breathing.

The Dutch scientists treated the patients with intravenous infusions of purified alpha-glucosidase from the milk of rabbits that were genetically modified to produce the human enzyme. After 72 weeks of treatment, the four infants and three children who received treatment had normal levels of enzyme activity, improved muscle function and breathing ability, removing the need for a ventilator in a few cases. One of the four infants was able to sit up while another was shown riding a tricycle and tossing a ball.

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van den Hout, H. et al. First clinical test with recombinant human alpha-glucosidase from rabbit milk shows therapeutic effect in Pompe patients. Am J Hum Genet 67, supplement to volume 67, 10 (October 2000).

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