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Infants With Rare Genetic Disease Saved by Cord Blood Stem Cells

d normally, according to Kurtzberg.

Kurtzberg said their treatment successes provide a strong argument for mandatory, universal screening of all newborns for the genetic lysosomal storage diseases. The major barrier to universal newborn screening is building an infrastructure to support widespread testing, she said. The cost of testing itself would be relatively low.

Although lysosomal storage diseases are rare ?fewer than 5,000 births combined out of 4 million per year in the U.S. ?they are best treated if patients are diagnosed and treated in early infancy, said Kurtzberg. In fact, transplantation in newborns yields the best long-term outcomes and newborns tolerate the transplants more easily than older babies and children.

"Time is of the essence in treating these children before symptoms progress and become irreversible," said Kurtzberg, director of Duke's Pediatric Blood and Marrow Transplant Program. "Delaying the transplant even a week or two can make a noticeable difference in a child's motor skills, so timely diagnosis and treatment is essential to preserving brain and motor function."

Children transplanted after onset of symptoms do stabilize but exhibit minimal neurologic improvement, said Maria Luisa Escolar, MD, of UNC-CH, whose team assessed the neurological, cognitive and physical development of each child with Krabbe Disease before and after transplant.

Escolar is lead author of the study and directs the Program for Neurodevelopmental Function in Rare Disorders at the Center for Development and Learning, UNC-CH. The program is dedicated to tracking the natural history and the effects of new therapies in children with rare diseases.

In the new study, eleven asymptomatic newborns (ages 12 to 44 days) and 14 symptomatic infants (ages 142 days to a year) were treated with unrelated donor umbilical cord blood. Cells from the donor "engrafted" or took hold in all of the patients. All of the asymptomatic newbo
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Source:Duke University


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