By introducing widespread newborn screening for a deadly disease called severe combined immunodeficiency, or SCID, followed by early treatment, the five-year survival rate of children with the disorder increased from 73% before the introduction of the screening to 87% since, researchers say. Among children whose disease was suspected by newborn screening rather than by illness or family history, 92.5% survived five years or more after treatment. These results show for the first time that newborn screening facilitated the early diagnosis of infants with SCID, leading to prompt treatment before life-threatening infections occurred, thereby increasing the percentage of children who lived to age 5 or beyond. Researchers at the National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health, and colleagues led the retrospective study published today by The Lancet.
“This study definitively shows that newborn screening for SCID has made it possible to save the lives of many more children with the disease than ever before,” said NIAID Director Hugh Auchincloss, “We hope these results will inspire more countries.” to screen newborns for this devastating disease.”
SCID is a rare disease caused by mutations in genes involved in the development and function of immune cells that fight infection. Infants with SCID appear healthy at birth but are highly susceptible to serious infections. The condition is fatal, usually within the first year or two of life, unless the infant receives immune-restorative therapy such as a stem cell transplant, gene therapy, or enzyme therapy. Forty to 80 children in the United States and Canada are diagnosed with SCID each year. The number of children born with the disease worldwide is unknown because most countries have not yet screened for SCID. Incidence ranges from 1 infant in 2,000 live births in areas where inbreeding is common to 1 in 60,000 live births where it is not.
NIH researchers developed a newborn screening test for SCID in 2005. Taking the test gradually has made it possible to detect the disease in infants before symptoms appear, take steps to prevent infection and provide life-saving treatment early. Individual US states and Canadian provinces began screening newborns for SCID in 2008, beginning with a pilot program in Wisconsin. By the end of 2018, all US states, Washington, DC and two US territories were performing newborn screening for the disorder. Seven Canadian provinces and territories now do so.
Several studies previously suggested that newborn screening for SCID improved survival, but none proved it. For this reason, the NIH-funded Primary Immune Deficiency Treatment Consortium (PIDTC) set out to definitively measure whether the introduction of population-wide newborn screening for SCID had improved the overall survival of infants with the disease. PIDTC is part of NCATS’ Rare Diseases Clinical Research Network and consists of 47 centers in North America with the common goal of improving the health of people with rare, life-threatening, inherited diseases of the immune system.
PIDTC researchers analyzed data on more than 900 children with confirmed SCID who were treated for the disease with a hematopoietic stem cell transplant from a non-genetically matched donor at one of 34 sites in the United States or Canada between 1982 and 2018. The researchers looked at the five-year overall survival rates of these of children from 2010-2018, when state and district newborn screening was in effect at participating sites, compared to previous periods. The researchers excluded infants who received stem cell transplants from genetically matched sibling donors from the analysis, because these infants had a high overall survival rate throughout the study period.
The overall survival rate for five-year-old children with SCID who received a stem cell transplant from a non-genetically matched donor remained stable at 72% to 73% from 1982 to 2009 despite advances in clinical care, then increased to 87% during the years 2010 to 2018. Among children there for whom disease was first suspected based on a newborn screening result rather than illness or a family history of SCID, and who received a transplant between 2010 and 2018, 92.5% survived to 5 years or older.
Previous studies had shown that being younger than 3.5 months at transplant and not having an active infection at the time improved the five-year survival of children with SCID. Analysis of the PIDTC data showed that both of these factors were much more common at the time of newborn screening and contributed to an increase in the percentage of children who survived to 5 years of age. of children with SCID who had never had an infection at the time of transplantation was significantly higher, further driving the increase in survival. In addition, regardless of the transplant technique used, the percentage of children who survived to age 5 was the highest in 2010-2018 compared to previous decades.
NIAID and the NIH National Center for Advancing Translational Sciences funded the research with additional support from the National Institute of Neurological Disorders and Stroke of the NIH; National Heart, Lung, and Blood Institute; and the National Cancer Institute.
Luigi Notarangelo, MD, Christopher Dvorak, MD, Elie Haddad, MD, Ph.D., and Monica Thakar, MD, led the study. Dr. Notarangelo is chief of the NIAID Laboratory of Clinical Immunology and Microbiology. Dr. Dvorak is the Chief of Pediatric Allergy, Immunology and Bone Marrow Transplantation and Director of the Pediatric Cell Therapy Laboratory at the University of California, San Francisco (UCSF). Dr. Haddad is Associate Chair of Research and Professor of Pediatrics at the University of Montreal, as well as Head of the Department of Immunology, Rheumatology and Allergy at CHU Sainte-Justine in Montreal. He also holds the Bank of Montreal Chair in Pediatric Immunology at CHU Sainte-Justine. Dr. Thakar is the chief physician of inpatient bone marrow transplantation at Seattle Children’s Hospital, as well as an associate professor at both the Fred Hutchinson Cancer Center and the University of Washington in Seattle.
NIAID conducts and supports research—at NIH, across the United States, and around the world—to study the causes of infectious and immune-mediated diseases and develop better ways to prevent, diagnose, and treat these diseases. News releases, fact sheets, and other NIAID-related materials are available on the NIAID website.
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