Gene therapy holds promise for muscular dystrophy patients

Results of a study have demonstrated that using gene therapy helps to restore some muscle function in patients with a certain type of muscular dystrophy. And, as HealthDay reports, this marks the first time such a feat has been performed in humans. If replicated, the findings could provide hope for people with this and other forms of the disease.

The patients in this study had the limb-girdle form of the disease, which is characterized by muscle weakness around the hips and shoulders and for which there is no effective therapy. "The disease typically begins between two and 15 years of age, and many patients become wheelchair-bound by their teens," Richard Moxley, director of the Neuromuscular Disease Center, at the University of Rochester Medical Center, explains.

"This study has shown that a normal gene packed into a virus and injected directly into a muscle can actually produce the protein that is either defective or missing in this particular form of muscular dystrophy," says Rabi Tawil, professor of neurology at the University of Rochester Medical Center. "Similar studies have been done in animal models, and this is the first to show a similar result in humans."

However, in order for the gene therapy to work, several muscle groups must be treated at the same time. "This technique delivers the gene directly into the muscle through a needle. It is not practical to do this on large muscles, let alone several muscles, as it would require hundreds of injections," Tawil says. "To make this treatment viable, a system has to be devised where the virus-plus-normal gene can be injected into the circulation and have it deposited into all the muscles. The other obstacle is making sure that injecting the virus containing the normal gene does not induce the immune system to attack the virus."

A previous study of the same gene transfer procedure had been successful in three patients with levels of the protein staying elevated for at least three months after treatment.

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