Jennifer Puck, Professor of Pediatrics at the University of California, San Francisco, and co-leader of Rare Diseases Clinical Research Network’s (RDCRN) Primary Immune Deficiency Treatment Consortium, and  Monica Thakar, MD, Associate Professor at both Fred Hutchinson Cancer Center and the University of Washington in Seattle, discuss the recent study showing the survival benefits of newborn screening for children with severe combined immunodeficiency (SCID). 

 

 

SCID is a group of inherited immune system disorders. Abnormalities with responses of both T cells and B cells characterize the disorder. Infants with SCID usually appear healthy at birth but are highly susceptible to severe infections. The condition is fatal in the first few years of life if not given immune-restoring treatment. This can include a stem-cell transplant, gene therapy, or enzyme therapy.

Newborn screening commonly tests for SCID. To determine if newborn screening has improved outcomes in these children, researchers at RDCRN’s Primary Immune Deficiency Treatment Consortium compared survival rates in children with SCID, both before and after the disease was part of newborn screening. 

The study was recently published in The Lancet.

Study

As noted by Dr. Thakar, PIDTC investigators analyzed data on 902 children with confirmed SCID who received stem-cell transplants from non-genetically matched donors at one of 34 sites in the United States or Canada between 1982 and 2018. 

From 1982 to 2009, prior to newborn screening, the 5-year overall survival rate for children with SCID remained steady at 72% to 73%, despite advances in clinical care. From 2010 to 2018, following the use of newborn screening to detect SCID, the 5-year survival rose to 87%. Further, in children suspected of having SCID based on newborn screening (instead of a family history), the 5-year survival rate was 92.5%. 

These results confirm that widespread adaptation of newborn screening to suspect SCID has dramatically improved survival in these children

To learn more about the research being conducted by the Primary Immune Deficiency Treatment Consortium, visit, pidtc.rarediseasesnetwork.org/ 

To stay up-to-date on the latest RDCRN news, go to checkrare.com/rare-diseases-clinical-research-network/ 

Reference

Thakar MS et al. Measuring the effect 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. The Lancet. 2023 [online ahead of print] DOI: https://doi.org/10.1016/S0140-6736(23)00731-6