ORIGINAL RESEARCH article
Front. Pediatr.
Sec. Genetics of Common and Rare Diseases
Volume 13 - 2025 | doi: 10.3389/fped.2025.1613599
Enzyme replacement therapy in infants and very young children with Gaucher disease using velaglucerase alfa: a single-center experience
Provisionally accepted
- 1Lysosomal and Rare Disorders Research and Treatment Center, Fairfax, United States
- 2Takeda Pharmaceuticals USA Inc., Lexington, United States
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Our study provides a comprehensive evaluation of the effectiveness and safety of velaglucerase alfa as an enzyme replacement therapy (ERT) in infants and very young children with Gaucher disease (GD). The findings are based on a pivotal study, involving 11 patients diagnosed with GD (some through Newborn Screening) and treated early in life. We observed marked improvements and stabilization in hematological values, organ sizes, and growth parameters, with no reported drugrelated adverse events. These results support the benefits of early intervention with ERT, and offer valuable insights into the early presentation and clinical course of GD, starting from neonatal age and extending to early childhood. To the best of our knowledge, this is the first study of its kind on children of this age group with GD, and represents a significant contribution to the field of pediatric rare diseases and ERTs.
Keywords: Gaucher Disease, Pediatrics, Enzyme Replacement Therapy, velaglucerase alfa, Hepatomegaly, Splenomegaly, Lyso-Gb1, Bone manifestations
Received: 17 Apr 2025; Accepted: 22 Jul 2025.
Copyright: © 2025 Goker-Alpan, Ivanova, Pathak and Wright. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Ozlem Goker-Alpan, Lysosomal and Rare Disorders Research and Treatment Center, Fairfax, United States
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