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Tuesday, June 20 2023
Press release

Screening newborns for "bubble-baby" disease saves lives

Survival rates of babies after bone-marrow transplants jumped significantly after screening for SCID – severe combined immunodeficiency disease – started in North America in 2008, a major study finds.

MONTREAL, June 21, 2023 –  Survival rates of babies after bone-marrow transplants jumped significantly after screening for SCID –  severe combined immunodeficiency disease – started in North America in 2008, a major study finds.

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

Published yesterday in The Lancet with an accompanying editorial, the retrospective study was co-led by Elie Haddad, pediatrician and immunologist at the CHU Sainte-Justine mother and child hospital and an Université de Montréal medical professor and clinician scientist.

The research shows that the gradual adoption of newborn screening for SCID since 2008 in North America has boosted the survival rate from 73 per cent between 1982 and 2009 to 87 per cent  between 2010 and 2018.

The survival rate jumped to 92.5 per cent in children whose SCID was detected and treated at birth, whereas it was much lower in children diagnosed after the onset of symptoms. Furthermore, the proportion of babies transplanted and who never contracted an infection was significantly higher, an aspect 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. Children with SCID appear perfectly healthy at birth but are extremely 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 post-transplant survival is staggering and alone justifies the implementation 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 the head of the Immuno-allergy and Rheumatology division at CHU Sainte-Justine. "This study highlights the importance of prevention and of collaboration in precision health."

Rollout of newborn screening for SCID

Several studies had suggested that systematic neonatal screening for SCID could improve the survival rate of affected children, but the data were inconclusive. Done in collaboration with numerous research centres in Canada and the U.S., Haddad's shows that the increase in the survival rate of children with transplants coincides with the rollout of a screening test in various North American regions begun in 2008. Since 2018, all U.S. states have been conducting preventive screening for SCID. In Canada, seven provinces and territories have followed suit; in Quebec, the process is underway.

The continuing adoption of newborn screening has made it possible to detect the disease earlier before symptoms appear, and to take all possible steps to prevent infection and quickly provide treatment. Previous research already showed that being younger than 3.5 months at the time of transplant and the absence of infection significantly improved survival rates.

"Given that we are preventing children from dying and from 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 diseases that the test can detect."


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About the study

The article "Measuring the impact of newborn screening on survival after hematopoietic cell transplant for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium" by Monica S. Thakar, Brent R. Logan, Jennifer M. Puck, Elizabeth A. Dunn, Rebecca H. Buckley, Morton J. Cowan, Richard J. O'Reilly, Neena Kapoor, Lisa Forbes Satter, Sung-Yun Pai, Jennifer Heimall, Sharat Chandra, Christen L. Ebens, Deepak Chellapandian, Olatundun Williams, Lauri M. Burroughs, Blachy Davila Saldana, Ahmad Rayes, Lisa M. Madden, Shanmuganathan Chandrakasan, Jeffrey J. Bednarski II, Kenneth B. DeSantes, Geoffrey D. E. Cuvelier, Pierre Teira, Alfred P. Gillio, Hesham Eissa, Alan P. Knutsen, Frederick D. Goldman, Victor M. Aquino, Evan B. Shereck, Theodore B Moore, Emi H. Caywood, Mark T. Vander Lugt, Jacob Rozmus, Larisa Broglie, Lolie C. Yu, Ami J. Shah, Jeffrey R. Andolina, Xuerong Liu, Roberta E. Parrott, Jasmeen Dara, Susan Prockop, Caridad A. Martinez, Malika Kapadia, Soma C. Jyonouchi, Kathleen E. Sullivan, Jack J. Bleesing, Sonali Chaudhury, Aleksandra Petrovic, Michael D. Keller, Troy C. Quigg, Suhag Parikh, Shalini Shenoy, Christine Seroogy, Tamar Rubin, Hélène Decaluwe, John M. Routes, Troy R. Torgerson, Jennifer W. Leiding, Michael A. Pulsipher, Donald B. Kohn, Linda M. Griffith, Elie Haddad,* Christopher C. Dvorak* and Luigi D. Notarangelo,* was published on June 21, 2023 in The Lancet. Funding for the study was provided by the National Institute of Allergy and Infectious Diseases (NIAD), the National Institutes of Health (NIH), the National Institute of Neurological Disorders and Stroke, the National Heart, Lung, and Blood Institute, the National Cancer Institute and the CHU-Sainte Justine Foundation. *These (3) authors contributed equally and share senior authorship of this study.  They are part of the Primary Immune Deficiency Treatment Consortium (PIDTC) whose goal is to improve the health outcomes of people with rare, life threatening, inherited disorders of the immune system.

About the CHU Sainte-Justine Research Centre  

The CHU Sainte-Justine Research Centre is a leading mother-child research institution affiliated with the Université de Montréal. It brings together 295 research investigators, including over 163 clinician-scientists, as well as more than 580 graduate and postgraduate students focused on finding innovative prevention means, faster and less invasive treatments, as well as personalized approaches to medicine. The centre is an integral part of CHU Sainte-Justine, which is the largest mother-child centre in Canada.

Source :

CHU Sainte-Justine Research Centre
Nathalie Prud'homme
Scientifique popularizer

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Advisor - Media Relations and External Relations
CHU Sainte-Justine
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Updated on 6/21/2023
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