Baby Rescue: Cord blood saves infants with rare disease

Few events shatter new parents’ joy faster than learning that their baby has an incurable illness. One such condition is infantile Krabbe’s disease, an inherited disorder of the nervous system. Because of an enzyme deficiency, the short lives of such infants are marked by irritability, feeding problems, seizures, blindness, and deafness. These babies usually die before age 2.

Doctors now report rescuing infants from Krabbe’s disease with an infusion of umbilical cord blood from an unrelated donor.

Pediatrician Maria L. Escolar of the University of North Carolina at Chapel Hill and her colleagues there and at Duke University Medical Center in Durham, N.C., identified 11 babies before or soon after birth who had the enzyme deficiency but hadn’t yet shown signs of Krabbe’s disease. They also identified 14 other babies, ages 4 to 9 months, who lacked the enzyme but already showed symptoms of disease. The doctors gave all the children a drug that wipes out bone marrow and, a week or so later, transfused each baby with a dose of cord blood.

Follow-up ranging from a few months to nearly 6 years shows that all 11 participants who were treated as newborns are still alive, and 7 have passed their second birthdays. However, 8 of the 14 babies who received cord blood after showing symptoms of disease have died, the researchers report in the May 19 New England Journal of Medicine.

Moreover, the babies treated as newborns have shown normal vision and only two scored below normal on cognitive-development tests. Some exhibit motor-skills deficits such as problems walking.

In contrast, all the surviving children who received cord blood after showing signs of Krabbe’s disease are severely disabled.

Because they lack the enzyme called galactocerebrosidase, children with Krabbe’s disease fail to produce and maintain myelin, the fatty substance that insulates nerve fibers. Stem cells in transplanted bone marrow can grow into brain cells that produce galactocerebrosidase. However, locating a matching marrow donor is sometimes a lengthy process.

Finding a cord-blood donor is quicker. Cord-blood transplants don’t need to come from as closely matched a donor as marrow cells do, says Escolar, and the donor doesn’t require surgery.

Furthermore, cord-blood stem cells seem to establish themselves in the brain more reliably than marrow stem cells do, Escolar says.

“It’s not often we get to see such an important piece of work,” says geneticist Pablo Rubinstein of the New York Blood Center. Escolar’s findings suggest that doctors should screen all newborns for Krabbe’s disease, Rubinstein says. “We shouldn’t be waiting until we have cause” to look for it, he adds.