CHAPEL HILL, May 24, 2005 (LifeSiteNews.com) – Umbilical cord-blood transplants save the lives of newborns with a rare genetic disorder called Krabbe’s disease and help 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’s disease lack an enzyme necessary for normal myelination of the brain and peripheral nervous system at the time when myelination is occurring most rapidly,” said Dr. Maria Luisa Escolar, the study’s lead author. “The infants become irritable, lose 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.”
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.
Results of the study were 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.” These include more than 45 diseases, such as Krabbe’s disease, Hurler syndrome, adrenoleukodystrophy, metachromatic leukodystrophy, Tay-Sachs disease, Sandhoff disease and a host of others.
All of the infants in the study who received cord-blood transplants as newborns are still alive, with the oldest being 6½ years old, up to four years after an untreated sibling with the same disorder had died. Moreover, most newborns who were treated before the onset of symptoms showed continual improvement in developmental skills and had age-appropriate mental and language skills.
“Time is of the essence in treating the children before symptoms progress and become irreversible,” said Kurtzberg. “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. It’s simply impossible to put a price on a child’s life.”