New Hope For Pompe Disease Patients

(Ivanhoe Newswire) -- Upcoming gene therapy trials provide hope for patients in the late stages of the form of muscular dystrophy called Pompe disease. Scientists at the University of Florida’s Powell Gene Therapy Center expect to begin clinical trials of a gene therapy for Pompe-related breathing problems this summer.

Pompe disease -- which is a form of muscular dystrophy that causes extreme muscle weakness and severe breathing problems -- leads to a lack of production of the enzyme acid alpha-glucosidase, or GAA.  New gene therapy trials will attempt to inject the correct gene that produces GAA into the patient’s diaphragm in order to “infect” the cells of the Pompe patient with the mechanism they have been missing since birth.

Barry Bryne, M.D., Ph.D., UF pediatric cardiologist and the director of the Powell Gene Therapy Center, said he believes gene therapy is a way to improve the current existing treatment for Pompe patients, which involves intravenous infusions to replace the missing enzymes.

Some of the efforts to find a treatment for Pompe disease are depicted in Pulitzer Prize-winning reporter Geeta Anand’s book The Cure. The book has now become the basis for the film “Extraordinary Mesaures” starring Harrison Ford and Brendan Fraser, which opened last weekend.

Source: Molecular Therapy, published online January 26, 2010

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