Chapel Hill -- An article reporting results from a pivotal clinical trial that helped gain U.S. Food and Drug Administration approval for the first treatment for Hunter disease has been published online by the journal Genetics in Medicine.
The article is available to journal subscribers at www.geneticsinmedicine.org. It will also appear in the journal's August 2006 print edition.
Lead author is Dr. Joseph Muenzer, an associate professor in the Department of Pediatrics at the UNC School of Medicine. Muenzer led the Phase II/III clinical trial, which found that weekly infusions of idursulfase (recombinant human iduronate-2-sulfatase) are effective in treating the underlying enzyme deficiency in patients with Hunter syndrome.
Based on these results, the FDA on July 24 approved Elaprase, an idursulfase preparation manufactured by Shire Human Genetic Therapies Inc. of Cambridge, Mass.
"For the families of patients with Hunter syndrome, FDA approval of Elaprase gives them hope," Muenzer said. "Prior to this, they had no hope. These were children who were destined to die in their teenage years and early 20s. Now, they have a treatment that arrests or halts the disease process," Muenzer said.
Muenzer is recognized as one of the world's leading experts in Hunter syndrome research and the medical treatment of children with genetic lysosomal storage diseases such as Hunter syndrome.
In his laboratory at UNC, Muenzer created a mouse model for Hunter syndrome that was used in earlier research that demonstrated the potential effectiveness of Elaprase.
Hunter syndrome, known more formally as mucopolysaccharidosis type II or MPS II, is an extremely rare inherited enzyme disorder that occurs almost exclusively in males.
People with Hunter syndrome lack the enzyme iduronate-2-sulfatase, which is essential for recycling complex carbohydrates such as glycosaminoglycans, or GAG. Th
Contact: Stephanie Crayton
University of North Carolina School of Medicine