Gene Therapy Developed by Researchers from Nationwide Children’s and OSU Shows Promise in Treatment of Muscular Dystrophy

Researchers from Nationwide Children’s Hospital, OSU and the University of Florida have released the details of what is being called the first gene therapy trial in muscular dystrophy that demonstrates promising findings. Published online in the Annals of Neurology researchers reported how they safely transferred a gene to produce a protein necessary for healthy muscle fiber growth into three teenagers with limb-girdle muscular dystrophy. 

Limb-girdle muscular dystrophy describes more than 19 disorders that occur because patients have a faulty alpha-sarcoglycan gene (SG gene) which causes muscles to fail to produce a protein necessary for muscle fiber to thrive. The trial evaluated the safety of a modified adeno-associated virus – an apparently harmless virus that already exists in most people – as a vector for delivering the alpha-SG gene to muscle tissue. 

Research subjects received a dose of the gene on one side of the body and saline on the opposite site. Neither researchers nor patients knew which muscles received the actual treatment until the end of the experiment. The subjects were studied for 180 days and therapy effectiveness was measured by assessing alpha-SG protein expression in the muscles. These levels were found to be four to five times greater in the side that received the gene therapy than in the side that received the saline. 

Proof of safety was the primary endpoint of the study, but researchers were encouraged by other results as well. Effects continued for at least six months after treatment.    In addition, scientists reported they actually saw muscle-fiber size increase in the treated areas, suggesting that it may be possible to combat the dystrophic process that causes muscles to waste away over the course of the disease. This discovery could have implications to a variety of conditions where muscle is atrophied – conditions as wide ranging as cancer and aging.

For full details, see the release from Nationwide Children’s Hospital: 

http://www.nationwidechildrens.org/gd/applications/controller.cfm?page=204&id=626&type=new