Doctors gave the purified laboratory-generated enzyme to patients intravenously each week for a year and evaluated them extensively at six, 12, 26 and 52 weeks before analyzing and reporting their findings.
Because numerous comparable lysosomal storage diseases like MPS 1 have been identified, each with its own missing enzyme, the new work "is really the beginning of a whole new therapeutic possibility for rare genetic disorders like this one," Muenzer said.
In lysosomal storage diseases, organelles inside cells called lysosomes get clogged with complex carbohydrates known as mucopolysaccharides that the missing enzymes would otherwise break down for recycling.
"Since the lysosome is a recycling center, I liken it to a garage people keep putting stuff in," the physician said. "If you never take the items out to the curb, over time your garage becomes non-functional."
The researchers now are conducting a second study known as a Phase III, double-blind, placebo-controlled trial at six centers across North America and Europe. Other centers involved in the study reported Thursday were Vanderbilt University Medical Center, the University of Texas Southwestern Medical Center in Dallas, Baylor College of Medicine in Houston, Harbor-UCLA Medical Center in Torrance, Calif., and UCLA School of Medicine in Los Angeles.
The chief sponsor of the clinical trial was Biomarin Pharmaceutical, and it also was supported by the Ryan Foundation for MPS Children, the Harbor-UCLA General Clinical Research Center and UNC-CH's General Clinical Research Center.
"The fact that researchers and companies are willing to get involved in this disorder to me is very enco
Contact: David Williamson
University of North Carolina at Chapel Hill