Study Promotes Extensive Screening for 'Bubble-Boy' Disease

Statistics show that about one in 100,000 babies will we born with severe combined immunodeficiency (SCID) a genetic disorder that's been coined as the "bubble boy" disease. Previous studies have shown that for many dealing with this health issue that results in a greatly impaired immune system, a hematopoietic stem cell transplant following birth may be the best approach to prolong survival.

Recent findings published in the New England Journal of Medicine have detailed an analysis of 10 years of outcome data by researchers at the Dana-Farber/Boston Children's Cancer and Blood Disorders Center. Their findings reveal the urgent need to expand screenings for this health issue.

"Survival is much, much better if infants undergo transplant before they turn 3½ months old and before they contract any SCID-related infections," said lead study author Sung-Yun Pai, MD, of Dana-Farber/Boston Children's, in a news release. "The best way to identify patients that early when there is no family history of SCID is through newborn screening."

For their findings, researchers analyzed data on 240 children with SCID transplanted at 25 centers across North America between Jan. 1, 2000 and Dec. 31, 2009; this is a decade before the U.S. Department of Health and Human Services recommended newborn screening for SCID in 2010.

As it stands, 21 states and the District of Columbia screen newborns for SCID. Another nine are expected to, also, by the end of 2014.

Though data collection revealed that the health issue is rare, it also reiterates the need for greater screenings. Infection status and donor source had the strongest impact on transplant outcomes for patients who were treated immediately.

"Some children who succumbed to unexplained infections probably suffered from SCID," Pai noted.

For the study, findings revealed that children who underwent a transplant before 3.5 months of age were much more likely to survive than those who were transplanted with the stem cells of a matched sibling donor. Furthermore, children outside of that age group also had a good chance of survival, as long as they did not succumb to an active infection.

"This study accomplishes several things," Pai noted. "First, it creates a baseline with which to compare patient outcomes since the advent of newborn screening for SCID. Second, it provides guidance for clinicians regarding the use of chemotherapy conditioning before transplantation. Third, it highlights the relative impacts of infection status and patient age on transplant success.

"Lastly," she concluded, "it establishes the importance of early detection and transplantation, which points to the benefit of expanding newborn screening for SCID as broadly as possible."

More information regarding the findings can be seen via the Dana-Farber and Boston Children's Cancer and Blood Disorders Center.