Olipudase alfa treatment for pediatric acid sphingomyelinase deficiency in Egypt: A prospective, observational cohort study with an interventional subgroup

Objectives To present key features of pediatric acid sphingomyelinase deficiency (ASMD) and assess the clinical and safety outcomes of enzyme replacement therapy with olipudase alfa. Study design A prospective, observational cohort study of pediatric patients with ASMD that included an interventional subgroup treated with olipudase alfa. Patients presenting to the Alexandria University Children's Hospital in Egypt from June 2022 to May 2023 underwent clinical examination and genetic testing. Clinical and safety outcomes were assessed in patients who received biweekly infusions of olipudase alfa for 12 months. Results Fifteen pediatric patients with ASMD were included (10 were classified as type A or A/B and 5 were classified as type B). Patients with ASMD type A or A/B presented earlier and more severely, with a higher rate of mortality than patients with type B. Qualitative improvements in developmental and neurocognitive outcomes, clinical presentation, and laboratory parameters were observed among the patients with ASMD type A/B or type B treated with olipudase alfa ( n = 6), with only mild safety events recorded. Treated patients with type B ( n = 4) demonstrated significantly improved weight ( p = 0.031, η 2 = 0.757) and height/length Z -scores ( p = 0.009, η 2 = 0.707), and liver size ( p = 0.025, η 2 = 0.839) compared with baseline. Conclusions This case series contributes to the clinical and biochemical understanding of ASMD and may help reduce diagnostic delays and improve clinical management. Olipudase alfa was generally well tolerated, and promising clinical improvements were observed.