Babies with a rare inherited disease may be spared permanent brain damage if they receive umbilical cord blood transplantation before they are 9 months old.
Experts say the findings emphasize the need for early diagnosis of the condition, called Hurler syndrome, preferably through newborn screening programs.
Hurler syndrome is the most clinically severe form of an inherited disorder where a child lacks a key enzyme needed to break down complex sugars called glycosaminoglycans. The sugar buildup results in progressive organ deterioration and death in childhood.
Affected children may not have symptoms until age 3, but the brain undergoes damage before symptoms appear.
Umbilical cord blood transplantation from unrelated donors has previously been shown to improve neurological outcomes of children older than 2 years of age and prolong life.
Hematopoietic stem cells from the cord blood transplants provide a source for the normal enzyme that is donated to the deficient cells decreasing the accumulation of gycosaminoglycans.
Treatment of Hurler syndrome with umbilical cord blood transplantation before 9 months of age leads to normal cognitive development, according to the study that is published in the Annals of Neurology.
Children transplanted at 12 and 25 months of age functioned cognitively at a level 2 to 5.3 years below that of those transplanted at 4 months. Early transplantation also predicted better outcomes for language skills and adaptive behaviors.
“The purpose of the study was to determine whether age at transplantation can predict cognitive outcomes,” says Maria Luisa Escolar, associate professor of pediatrics at University of Pittsburgh School of Medicine.
“This study highlights the importance of early detection of brain diseases in babies and infants when brain growth is the most accelerated in life, placing them at increased vulnerability for permanent damage.”
Between June 1997 and February 2013, 31 children with Hurler syndrome underwent umbilical cord blood transplantation and were evaluated every six to 12 months for an average of seven years. Median age at transplantation was 13.8 months. The youngest babies in the study were diagnosed due to family history of the condition.
“Identification of asymptomatic children through statewide newborn screening programs is the only way to diagnose early and prevent brain damage to babies with no family history of Hurler syndrome,” Escolar says.
“Unfortunately, early diagnosis is often difficult as their initial symptoms may be common in the general population,” she says. “Therefore, there is a need for newborn screening for Hurler syndrome and similar neurodegenerative diseases that can identify children before symptoms appear, giving the best opportunity for prompt intervention and optimal outcomes.”
The Caterina Marcus Foundation provided funding for the study.
Source: University of Pittsburgh