GAINESVILLE, Fla.---University of Florida researchers have successfully restored normal muscle function in animals with a rare and fatal form of muscular dystrophy using a new form of enzyme replacement therapy.
In laboratory experiments, two doses of the enzyme strengthened the legs of a small sample of young mice with a muscle-wasting condition called Pompe's disease, according to findings from a new UF study. The enzyme replacement, which was developed and produced by Oklahoma City-based Novazyme Pharmaceuticals, had no adverse effects in the mice and could be tested in people within the year. "This is the first evidence that treatment for this disease has led to a functional correction of muscle strength," said Dr. Barry Byrne an associate professor in the College of Medicine's departments of pediatrics, and molecular genetics and microbiology. "The findings are preliminary and there's still a lot of work to do, but we're very encouraged."
Byrne, who also co-directs UF's Powell Gene Therapy Center, presented the results Sunday at the Federation of American Societies for Experimental Biologies conference in Orlando.
Pompe's disease is a debilitating genetic condition that causes an enlarged heart and liver, severe muscle weakness, breathing difficulties and destruction of respiratory muscle function, which eventually results in ventilator dependence. It is caused by the body's inability to manufacture any of the enzyme acid alpha-glucosidase, or GAA, also commonly called acid maltase. Milder forms of the disease are caused by inadequate supplies of the enzyme. Infants with Pompe's disease often die before age 2. Without the enzyme, a storage form of sugars and starches known as glycogen accumulates in and destroys muscle cells throughout the body, particularly those of the heart and respiratory muscles.
Though acid maltase deficiency diseases are rare, afflicting about 70,000 people worldwide, the UF research could lead to new treatment
Contact: Paula Rausch
University of Florida