Best Outcomes for SCID is Early Detection and Transplantation

A new study analyzing 10 years of data on children with severe combined immunodeficiency disease (SCID) suggests that children born with this disease have the best chance of survival if they undergo a hematopoietic stem cell transplant as soon as possible after birth. The study was published July 31 in the New England Journal of Medicine.

Researchers, led by Sung-Yun Pai, MD, assistant professor of pediatrics at Harvard Medical School and Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, said their findings argue for expanding newborn screening for SCID.

“Survival is much, much better if infants undergo transplant before they turn 3.5 months old and before they contract any SCID-related infections,” Pai said in a statement. “The best way to identify patients that early, when there is no family history of SCID, is through newborn screening.”

The study analyzed data from 240 children with SCID who were transplanted at 25 centers across North America between January 1, 2000, and December 31, 2009, the decade prior to the US Department of Health and Human Services recommending newborn screening for SCID in 2010.

Overall, 74% of the 240 patients survived at least 5 years. Among patients who underwent transplant younger than 3-and-a-half months, 94% survived. And virtually all (97%) of patients who received stem cells from a matched sibling donor survived.

Infection status at time of transplantation and donor source had the strongest impact on transplant success.

While rare (one in every 50,000 births), SCID is twice as common as once believed, according to newborn screening data. Pai noted that some children who previously succumbed to unexplained infections probably suffered from SCID.

“Time is not the ally of children with SCID,” Luigi Notarangelo, HMS professor of pediatrics at Boston Children’s Hospital and one of the study’s senior authors, said in a statement. “Because they do not have a functional immune system, the longer the wait before a transplant the greater the risk they will contract a potentially devastating infection.”