Columbus Children’s Research Institute (CCRI) at Columbus Children’s Hospital recently received a grant from the Centers for Disease Control to develop and implement a newborn screening trial for Duchenne muscular dystrophy, the most common type of muscular dystrophy in children. The study is a collaborative effort with the Ohio Department of Health.
Duchenne muscular dystrophy (DMD) is a hereditary and lethal neuromuscular disease characterized by progressive loss of muscle strength and integrity. DMD in children is usually not discovered until between 3 and 5 years of age.
A newborn screening for DMD would revealspot defects in babies’ DNA long before symptoms appear, allowing earlierthem to begin physical therapy right away, as well as potential new treatments that are showing promise in labs at CCRI. Muscular dystrophy research indicates that early gene therapy treatment interventions will make a significant difference in the outcome of the disease.
Dr. Jerry Mendell, principal investigator for the newborn screening study, and director, Center for Gene Therapy, CCRI, is testing genetic therapy for muscular dystrophy. He hopes to reduce or even stop the effects of DMD by replacing defective genes in patients’ muscles with working genes, an approach that has proved successful in mouse models.
An effective treatment for DMD is so close on the horizon that a large population of infants identified now as having DMD could possibly benefit from a new treatment before their disease becomes too debilitating, according to Mendell, who is also professor of Neurology, Pediatrics and Pathology at the Ohio State University (OSU) College of Medicine and Public Health and co-director of the Muscular Dystrophy Association-supported clinic at OSU.
The DMD newborn screening study is slated to begin in January 2006. Expectant mothers at four major Ohio birthing hospitals will be approached about voluntary enrollment. The study aims to screen 12,000 newborn males as part of the battery of newborn screening tests presently required by the state.