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Gene therapy may improve Pompe disease symptom

The movie "Extraordinary Measures," now in wide release, tells the true story of John and Aileen Crowley, whose two youngest children were diagnosed with Pompe disease. The disease, a form of muscular dystrophy, causes severe muscle weakness and difficulty breathing. John Crowley quit his job and started a biotech company in order to try to find a treatment for the disease.

There is still no cure for Pompe, but researchers at the University of Florida today reported progress in identifying a treatment to help patients in the late stages of the disease breathe on their own. People with Pompe disease cannot produce an enzyme called acid alpha-glucosidase (known as GAA). In the study, performed on mice with the disease, researchers showed they could target the diaphragm with gene therapy to improve breathing. The gene therapy consisted of attaching a functional copy of the gene that produces GAA to a harmless virus and injecting it. The virus infects cells and thus introduces the functional gene.

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