Cord blood helps with rare disease November 11, 2015|By Cindy Tumiel, San Antonio Express-News Doctors have found a way to use umbilical cord blood as a "poor man's gene therapy" to fix a rare but deadly inherited disease that strips babies' brain cells of their protective coating and routinely kills children by the time they are 2.For seven years, doctors have been using cord-blood transplants to treat infants born with Krabbe's disease, a genetic disorder in which children are born lacking an essential enzyme that helps form the protective sheath around delicate brain neurons. Without this enzyme, brain cells become damaged as children's motor and mental development deteriorates until they die. Cord blood from the placenta is rich in stem cells--progenitor cells that can become a variety of tissues in the body. And the Krabbe's disease study demonstrates the possibility of using cord blood to treat 40 or more rare but deadly inherited enzyme or metabolic defects, said Dr. Maria Louisa Escolar, an assistant professor at the University of North Carolina and the lead author of the study. A study of the first 25 patients was published earlier this year in the New England Journal of Medicine. One patient underwent a cord blood transplant in 2000 when she was 10 days old. The child now lives in Missouri and, except for some problems walking, is a typical 5-year-old excited about kindergarten, said Dr. Donna Wall, director of the pediatric blood and marrow transplant program at the Texas Transplant Institute in San Antonio. "We're kind of in new territory," said Wall, who helped treat the child when she lived in St. Louis. "The fact that she is 5 years old shows we have changed the nature of the disease." The treatment involves using chemotherapy to obliterate a baby's own bone marrow, then giving the infant a cord blood transplant to set up a new blood-building system, Escolar said. "Now all of the cells that control the blood all have the enzyme that the babies are missing," she said. "With the transplant, we are doing poor man's gene therapy," said Wall, referring to the still-unperfected effort to knock out a defective gene and replace it with a functioning one. With cord blood, "we are putting in a new blood-building system that has normal amounts of this missing enzyme," she said. The study involved 25 children--14 who already showed symptoms and 11 who were diagnosed before birth after having a sibling die from Krabbe's disease. All are still alive, with the oldest now 6 1/2 years old. Krabbe's disease occurs about once in every 100,000 births when a child is missing an enzyme called galactocerebrosidase, or GALC. Without this enzyme, the brain begins to lose myelin, a fatty covering that protects nerve cells in the brain. Babies with the condition typically develop normally for a few months, then become irritable and begin regressing from developmental milestones. They cry excessively, grow stiff, suffer seizures and have trouble eating. Most infants diagnosed with the disease die by age 2. "My son started dying the day he was diagnosed," said Beatriz Herrera of Ft. Worth, Texas, whose son Andres died from Krabbe's when he was 17 months old. Little information or treatment was available when Andres was diagnosed in 1995, Herrera said. Since then, families have found a support network through Hunter's Hope, a foundation established by former NFL quarterback Jim Kelly, whose son Hunter was born with the disease. Through it, Herrera has become an advocate for other parents and for efforts to raise money for more research. The foundation also is part of efforts to establish standards for newborn screening tests that can pick up Krabbe's and other genetic disorders.