{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T00:11:01Z","timestamp":1760746261227,"version":"build-2065373602"},"reference-count":51,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T00:00:00Z","timestamp":1760659200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>To evaluate the effectiveness and safety of enzyme replacement therapy (ERT) with velaglucerase alfa, and offer insights into the clinical course of patients with Gaucher disease (GD) that were diagnosed and treated early in life.<\/jats:p><\/jats:sec><jats:sec><jats:title>Study design<\/jats:title><jats:p>A phase IV, observational, retrospective and prospective study (NCT04721366) enrolled children with GD who initiated velaglucerase alfa under 4 years of age. Of twelve patients screened, 11 were enrolled (six boys, five girls; two retrospectively); four were identified through newborn screening (NBS).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Mean age of diagnosis was 14 months (range, 2 weeks\u201338 months) and most patients presented with splenomegaly. Patient genotypes included glucosylceramidase beta 1 gene variants R163X, L444P, R463C, N462K, D409H, 55-bp deletion, and other recombinant alleles. Velaglucerase alfa (60\u201380 U\/kg) was initiated at age \u22643 months (<jats:italic>n<\/jats:italic>\u2009=\u20094), &amp;gt;3\u2013\u22646 months (<jats:italic>n<\/jats:italic>\u2009=\u20092), &amp;gt;6\u2013\u226412 months (<jats:italic>n<\/jats:italic>\u2009=\u20091), &amp;gt;12\u2013\u226418 months (<jats:italic>n<\/jats:italic>\u2009=\u20092), and &amp;gt;36\u2013\u226448 months (<jats:italic>n<\/jats:italic>\u2009=\u20092), administered weekly\/every other week, mostly in home settings. Most patients were treated for \u226512 months (range, 2\u201357 months). Hematological values, organ sizes, and growth parameters improved and\/or remained stable for all patients; no typical GD-related bone manifestations were observed. Glucosylsphingosine levels decreased from 90\u2013874\u2005ng\/mL to 4\u201326\u2005ng\/mL within 6 months of starting ERT. No drug-related adverse events were recorded.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>These preliminary data suggest that velaglucerase alfa is well-tolerated and associated with improvements in clinical parameters in very young children with GD types 1 and 3, offering insights into the early presentation and course of GD in infancy and early childhood.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fped.2025.1613599","type":"journal-article","created":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T05:30:45Z","timestamp":1760679045000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Enzyme replacement therapy in infants and very young children with Gaucher disease using velaglucerase alfa: a single-center 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