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. 2024 May;194(5):e63524.
doi: 10.1002/ajmg.a.63524. Epub 2024 Jan 2.

Safety and tolerability of intravenous immunoglobulin infusion in Down syndrome regression disorder

Jonathan D Santoro  1   2 , Saba Jafarpour  1 , Mellad M Khoshnood  3 , Natalie K Boyd  1 , Benjamin N Vogel  1 , Lina Nguyen  1 , Laura E Saucier  1   2 , Rebecca Partridge  4 , Emmanuelle Tiongson  1   2 , Leigh Ramos-Platt  1   2 , Deepti Nagesh  1   2 , Eugenia Ho  1   2 , Tena Rosser  1   2 , Nusrat Ahsan  1   2 , Wendy G Mitchell  1   2 , Michael S Rafii  2   5
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Safety and tolerability of intravenous immunoglobulin infusion in Down syndrome regression disorder

Jonathan D Santoro et al. Am J Med Genet A. 2024 May.

Abstract

Three large multi-center studies have identified the clinical utility of intravenous immunoglobulin (IVIg) in the treatment of Down syndrome regression disorder (DSRD). Yet the tolerability of infusions in individuals with DS and the safety of IVIg remains unknown in this population. This study sought to evaluate the safety and tolerability of IVIg in individuals with DSRD compared to a real-world cohort of individuals with pediatric onset neuroimmunologic disorders. A single-center, retrospective chart review evaluating clinically documented infusion reactions was performed for individuals meeting international consensus criteria for DSRD and having IVIg infusions between 2019 and 2023. Infusion reactions were evaluated for severity and need for alterations in infusion plan. This cohort was compared against an age and sex matched cohort of children with neuroimmunologic conditions who had also received IVIg infusions. In total, 127 individuals with DSRD and 186 individuals with other neuroimmunologic disorders were enrolled. There was no difference in the overall rate of adverse reactions (AEs) between the DSRD and general neuroimmunology cohorts (p = 0.31, 95% CI: 0.80-2.00), but cardiac-related AEs specifically were more common among the DSRD group (p = 0.02, 95% CI: 1.23-17.54). When AEs did occur, there was no difference in frequency of pharmacologic intervention (p = 0.12, 95% CI: 0.34-1.13) or discontinuation of therapy (p = 0.74, 95% CI: 0.06-7.44). There was a higher incidence of lab abnormalities on IVIG among the general neuroimmunology cohort (p = 0.03, 95% CI: 0.24-0.94) compared to the DSRD cohort. Transaminitis was the most common laboratory abnormality in the DSRD group. In a large cohort of individuals with DSRD, there were no significant differences in the safety and tolerability of IVIg compared to a cohort of children and young adults with neuroimmunologic conditions.

Keywords: Down syndrome; IVIg; adverse events; immunoglobulin; side effects; transaminitis.

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