DURHAM, N.C. -- Researchers at Duke University Medical Center have demonstrated for the first time that it is possible to regenerate functional muscle in a rare type of muscular dystrophy.
Based on their successful tests in animals, they have been working closely with the federal Food and Drug Administration to begin using the treatment in children with a fatal muscle-wasting condition called Pompe disease.
The injectable enzyme treatment was developed by Duke pediatric medical geneticist Dr. Yuan-Tsong Chen. He said it is the first therapy to show promise in any type of a genetic muscle-wasting disease.
Muscular dystrophy is a broad category of inherited diseases in which the body's muscles don't function normally. Usually, an important muscle protein is missing or defective. Many doctors have been unsure if it is even possible to regenerate muscle tissue that has been damaged in these muscle-wasting diseases. Chen has now shown it is possible in principle to replace a missing component of muscle and improve muscle strength.
"This is a major milestone is our long-term efforts to develop an effective treatment for this devastating fatal disease," Chen said. The scientists reported their findings in the Feb. 15 issue of the Journal of Clinical Investigation. The research was supported by grants from Synpac Pharmaceuticals Ltd., the Japan Health Science Foundation and the Muscular Dystrophy Association.
Within this year, Chen and his colleagues expect to treat children born with the rare and always fatal Pompe disease, which is caused by an inherited defect that results in a deficiency in an essential enzyme called acid alpha glucosidase (GAA).
Normally the GAA enzyme helps the body break down stored glycogen into
glucose, a sugar the body uses for energy. Without the active enzyme, stored
glycogen builds up in the body's muscles, eventually destroying them. About 100
Contact: Karyn Hede George
Duke University Medical Center