Current and emerging pharmacotherapy for Gaucher disease in pediatric populations.

ABSTRACT:

Introduction

The past decades have witnessed a remarkable improvement in the health of patients with Gaucher disease, the inherited deficiency of the lysosomal enzyme glucocerebrosidase, resulting from the availability of enzyme replacement and substrate reduction therapies. Especially in pediatric populations, early diagnosis and initiation of treatment is essential to achieving optimal outcomes.

Areas covered

The authors review the literature pertaining to the effectiveness of currently available therapies and describe new pharmacotherapies under development, especially for young patients.

Expert opinion

For pediatric patients with non-neuronopathic Gaucher disease, there may be new therapeutic options on the horizon in the form of gene therapy or small molecule glu

SUBMITTER: Sam R 

PROVIDER: S-EPMC8373623 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature