Eliglustat substrate reduction therapy in children with Gaucher disease type 1.

ABSTRACT:

Importance

Gaucher disease (GD) is a rare lysosomal storage disorder with limited treatment options for pediatric patients. Oral substrate reduction therapy (SRT) with eliglustat offers a potential alternative, particularly for those with barriers to enzyme replacement therapy (ERT).

Objective

Evaluate the safety and efficacy of eliglustat SRT in pediatric patients with type 1 Gaucher disease (GD1), both as initial therapy and as a switch from intravenous ERT.

Design

A prospective case series was conducted from 2017 to 2024.

Setting

Yale's National Gaucher Disease Treatment Center, New Haven, CT, United States.

Participants

Fourteen pediatric GD1 patients with significant barriers to receiving ERT.

Intervention

Eliglustat SRT was dosed pharmacogen

SUBMITTER: Ain NU 

PROVIDER: S-EPMC11903696 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature