Investigating the therapeutic profile of velaglucerase alfa in paediatric patients with Gaucher disease: a systematic review across all paediatric age groups

TL;DR

This study reviews the safety and effectiveness of velaglucerase alfa in treating children with Gaucher disease, showing it is well-tolerated and beneficial for most symptoms.

Contribution

The study provides a comprehensive systematic review of velaglucerase alfa's therapeutic profile in all pediatric age groups with Gaucher disease.

Findings

Velaglucerase alfa is well tolerated and effective in treating hematological, visceral, and skeletal symptoms in pediatric GD1 patients.

The treatment maintains stability in patients previously treated with imiglucerase and improves quality of life when administered at home.

For GD3, the drug shows a favorable safety profile and some improvement in non-neurological symptoms, though evidence is limited.

Abstract

Gaucher disease (GD) is a rare autosomal recessive genetic disorder. The clinical manifestations can be adequately managed with enzyme replacement therapy (ERT). The aim of this systematic literature review was to explore the safety and efficacy or effectiveness (depending on the type of evidence) profile of velaglucerase alfa in the treatment of paediatric patients with type 1 (GD1) and type 3 (GD3) GD across all paediatric ages.

A systematic review of the PubMed/Medline and Embase databases, along with communications from international conferences, was conducted. The inclusion criteria comprised clinical studies published in either English or Spanish that assessed the therapeutic profile of velaglucerase alfa in patients with GD1 (primarily) and GD3 (exploratorily) of all paediatric ages (0–18 years). For each of the selected publications, data regarding the safety and efficacy/effectiveness of this treatment were extracted.

A total of 539 publications were identified, of which 23 studies encompassing data from 159 paediatric patients were included. Nine studies (71 patients) provided information about the safety in paediatric patients with GD1, describing it as well tolerated. Regarding the efficacy/effectiveness, 14 articles (113 patients) reported relevant data for the same subpopulation. Overall, improvements in haematological, visceral, skeletal, biomarker and health-related quality-of-life outcomes have been described in treatment-naïve paediatric patients with GD1 who were initially treated with velaglucerase alfa, as well as maintained stability in patients previously treated with imiglucerase. Furthermore, it has been reported that the safety and efficacy/effectiveness profile administered as home therapy enhances the quality of life for both patients and caregivers. The use of velaglucerase alfa in paediatric patients with GD3 was described in 7 publications (26 patients), suggesting a favourable safety profile, whereas its efficacy/effectiveness was reported in 5 articles (16 patients). Improvements in the non-neurological manifestations of the disease were recorded in patients with GD3.

This systematic review summarizes the limited evidence on velaglucerase alfa in paediatric patients with GD. Findings suggest that velaglucerase alfa may be a beneficial option for GD1 across all paediatric age groups (0–18 years). Additionally, it might be considered a therapeutic option for non-neurological GD3 symptoms, although evidence is scarce and exploratory, highlighting the need for further research in those patients.

The online version contains supplementary material available at 10.1186/s13023-026-04221-9.

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