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Infants With Rare Genetic Disease Saved by Cord Blood Stem Cells

Children with a fatal genetic disorder called Krabbe disease can be saved and their brain development preserved if they receive stem cells from umbilical cord blood before symptoms of the disease develop, according to a study published in the May 19, 2005, issue of the New England Journal of Medicine.

Without an immediate transplant of stem cells, Krabbe infants rapidly begin to lose all cognitive and motor functions and die by the age of two, said the researchers. They are from Duke University Medical Center's Pediatric Blood and Marrow Transplant Program and The Clinical Center for the Study of Development & Learning at the University of North Carolina at Chapel Hill (UNC-CH).

The study is the first to demonstrate a life-saving treatment for newborns with Krabbe Disease, in which children are missing an enzyme critical to forming the myelin sheath that protects developing brain cells from damage. Moreover, the findings add to the growing body of evidence showing that cord blood can save children with other fatal "lysosomal storage diseases," each of which stems from a specific enzyme deficiency.

These disorders include more than 45 rare diseases, such as Krabbe disease, Hurler syndrome, Adrenoleukodystrophy, Metachromatic Leukodystrophy, Tay-Sachs disease, Sandhoff disease and a host of others.

"The diseases may be uncommon, but the cost to the child, their family and to society at large is enormous when one considers the burden of caring for a severely disabled child," said Joanne Kurtzberg, senior author of the study. "It's simply impossible to put a price on a child's life."

Kurtzberg pioneered the use of umbilical cord blood from unrelated donors in 1993 and her team has treated and saved more children with cancers and rare genetic diseases than any other center in the world ?147 children in all. The oldest Duke patient transplanted for a lysosomal storage disease is now seven years old and has developed and progresse
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Source:Duke University


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