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Umbilical cord-blood transplants save lives of babies with rare genetic disorder

CHAPEL HILL -- Umbilical cord-blood transplants save the lives of newborns with a rare genetic disorder called Krabbe's disease and helps their brains develop more normally, a study led by researchers at the University of North Carolina at Chapel Hill and Duke University Medical Center concludes.

"Infants with Krabbe Disease lack an enzyme necessary for normal myelination of the brain and peripheral nervous system at the time when myelination is occuring most rapidly. The infants become irritable, loose all their developmental skills, become deaf and blind, have seizures and die. It is very painful for parents to watch their children deteriorate this rapidly. This study shows that finally there's a treatment that offers hope," said Dr. Maria Luisa Escolar, the study's lead author.

Escolar is an assistant professor in the UNC School of Medicine's department of pediatrics. She also is director of the Program for Neurodevelopmental Function in Rare Disorders, part of UNC's Clinical Center for the Study of Development & Learning. This program is dedicated to longitudinally track neurological and functional changes in patients with rare diseases. With a database of more than 450 multidisciplinary evaluations the program's main goal is to describe the natural history of rare diseases and the effects of new treatments.

Results of the study will be published in the May 19 issue of the New England Journal of Medicine. The study's senior author is Dr. Joanne Kurtzberg, director of Duke's Pediatric Blood and Marrow Transplant Program.

The study demonstrates that umbilical cord-blood transplant is a life-saving treatment for newborns with infantile Krabbe's disease, an inherited degenerative disorder that affects the nervous system, said Kurtzberg. Most infants with the disease die before reaching age 2. In addition, Kurtzberg added, the study adds to a growing body of evidence that cord blood can save children with other "lysosomal storage diseases."
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Contact: Stephanie Crayton
scrayton@unch.unc.edu
919-966-2860
University of North Carolina School of Medicine
18-May-2005


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