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.
The study is published today in the journal Molecular Therapy.
The research team will try the therapy later this year in six infants with Pompe disease. The treatment is not a cure but could be used in conjunction with other therapies to improve patients' quality of life, said Dr. Barry Byrne, a pediatric cardiologist and lead author of the study, in a news release.
"In chemotherapy, a combination of treatments is used to benefit the patient, and we hope this will work in the same way," Byrne said.
-- Shari Roan
Photo: Harrison Ford, right, and Brendan Fraser are shown in a scene from "Extraordinary Measures." Photo credit: AP Photo / CBS Films, Merie Wesimiller Wallace