Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study.

ABSTRACT:

Objective

Gaucher disease (GD) is a lysosomal storage disease characterized by a deficiency of glucocerebrosidase. Although enzyme-replacement and substrate-reduction therapies are available, their efficacies in treating the neurological manifestations of GD are negligible. Pharmacological chaperone therapy is hypothesized to offer a new strategy for treating the neurological manifestations of this disease. Specifically, ambroxol, a commonly used expectorant, has been proposed as a candidate pharmacological chaperone. The purpose of this study was to evaluate the safety, tolerability, and neurological efficacy of ambroxol in patients with neuronopathic GD.

Methods

This open-label pilot study included five patients who received high-dose oral ambroxol in combination with enzy

SUBMITTER: Narita A 

PROVIDER: S-EPMC4774255 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature