Elie Haddad

Credit: Stéphane Dedelis

Screening newborns for severe combined immunodeficiency disease (SCID) significantly increases the survival of children after bone marrow transplantation, according to a new North American study.

Published on June 20 in The Lancet with an accompanying editorial, the retrospective study was led by Elie Haddad, Université de Montréal professor of medicine and medical scientist, pediatrician and immunologist at the UdeM-affiliated CHU Sainte-Justine Mother and Child. hospital.

The study shows that the gradual introduction of newborn screening for SCID since 2008 in North America has increased survival from 73 percent between 1982 and 2009 to 87 percent between 2010 and 2018.

The survival rate rose to 92.5 percent in children whose SCID was diagnosed and treated at birth, but it was much lower in children diagnosed after symptoms appeared. Furthermore, the percentage of transplanted children who never developed an infection was significantly higher, a factor that played a major role in increasing their survival.

Also known as “bubble-baby” disease, SCID causes major immune cell dysfunction and affects 40 to 80 children annually in North America. Babies with SCID appear perfectly healthy at birth but are highly susceptible to infection. The disease is fatal (usually within the first year of life) unless the child receives treatment, such as a bone marrow transplant, gene therapy or enzyme therapy.

“The improvement in survival after transplantation is staggering and alone justifies the introduction of a newborn screening test for SCID and other life-threatening diseases of the immune system,” said Haddad, who is also the recipient of the BMO Chair in Pediatric Immunology and head of the Department of Immunoallergy and Rheumatology at CHU Sainte-Justine. “This study highlights the importance of prevention and collaboration in precision health.”

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A few studies had suggested that systematic newborn screening for SCID could improve the survival of affected children, but the data were inconclusive. Conducted in collaboration with numerous research centers in Canada and the United States, Haddad’s shows that the increase in the survival rate of children with transplants coincides with the beginning of a screening test in various regions of North America that began in 2008. Since 2018, every state in the United States has been conducting preventive screening for SCID. In Canada, seven provinces and territories have followed suit; in Quebec the process is underway.

Ongoing newborn screening has made it possible to detect the disease earlier before symptoms appear and take all possible measures to prevent infection and provide prompt treatment. Previous studies already showed that being younger than 3.5 months at the time of transplantation and the absence of infection significantly improved survival rates.

“Given that we are preventing children from dying and undergoing much more difficult treatments with subsequent consequences,” said Haddad, “these results will encourage other countries around the world to adopt newborn screening for SCID and other life-threatening immune disorders as the test. can detect.”

About this study

“Measuring the impact of newborn screening on survival after hematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium,” by Elie Haddad, Christopher C. Dvorak, Luigi D. Notarangelo et al. published June 21, 2023 in The Lancet. Funding was provided by the National Institute of Allergy and Infectious Diseases (NIAD), National Institutes of Health (NIH), National Institute of Neurological Disorders and Stroke, National Heart, Lung, and Blood Institute, National Cancer Institute, and National Institute of Neurological Disorders and Stroke. CHU-Sainte Justine Foundation.

About the CHU Sainte-Justine Research Center

The CHU Sainte-Justine Research Center is a leading maternal and child research institute affiliated with the Université de Montréal. It brings together more than 200 researchers, including over 90 physicians, as well as 350 graduate and post-graduate students who are focused on finding innovative approaches to prevention, faster and less invasive treatments, and personalized approaches to medicine. The center is part of CHU Sainte-Justine, which is the largest maternal and child hospital in Canada and the second most important children’s hospital in North America.

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