Your baby is born healthy. At first, she just seems irritable. But then she begins to constantly cry and arch her back, and you think she has reflux. She chokes when she tries to eat. She loses weight. Doctors insert a feeding tube in her stomach. The seizures start. Then, deafness and blindness. Her muscles stiffen. Her body shuts down. And like most other babies with Krabbe’s disease, a genetic disorder that affects the nervous system, she dies before her second birthday.
Now, after a study in which twenty-five infants diagnosed with Krabbe’s disease were given umbilical-cord blood transplants, there’s hope that parents won’t have to watch their children rapidly deteriorate. There’s even hope that the children may survive and live normal lives.
Researchers at UNC-Chapel Hill and Duke University Medical Center replaced blood-producing cells in the twenty-five infants with umbilical cord blood containing stem cells. The infants were then evaluated for up to six years. The findings were reported in the May 19, 2005, issue of the New England Journal of Medicine.
Eleven of the children received cord-blood transplants before they showed any signs of symptoms. The fourteen other children already had symptoms. Of these fourteen, six had survived as of January 2005 and for a median of forty-one months. Their conditions also did not worsen or improve.
But all eleven of the newborns who were asymptotic when they received the transplants survived. The oldest survivor was six and a half years old as of January 2005. The survivors also maintained normal vision, hearing, and cognitive development.
“There’s really a window of opportunity for treating this,” says Maria Escolar, the study’s lead author and director of the Program for Neurodevelopmental Function in Rare Disorders at Carolina’s Center for Development and Learning.
Earlier studies showed that bone-marrow transplants benefited people who developed Krabbe’s disease later in life. But finding matches for bone-marrow donors can take several months. Infants with Krabbe’s disease don’t have several months, Escolar says. Cord blood can be obtained in a week, and it is better tolerated than stem cells from bone marrow.
“Time is of the essence in treating the children before symptoms progress and become irreversible,” says Joanne Kurtzberg, director of Duke’s Pediatric Blood and Marrow Transplant Program and senior author of the study.
About two million people in the United States are carriers of Krabbe’s disease, and about one in a hundred thousand babies are born with the disease each year. Krabbe’s disease is caused by deficient levels of the enzyme galactocerebrosidase, which is needed to form myelin — a fatty substance that covers and protects developing brain cells. Without myelin, brain cells cannot function properly. Most children with Krabbe’s disease do not live past the age of two.
The results do not mean the cord-blood treatment is a cure, Escolar says. But she believes the results will “significantly change the course of the disease progression.”
“Finally,” she says, “there’s a treatment that offers hope.”
