Event-based real-life outcomes of patients with non-neuronopathic Gaucher disease receiving ert.

ABSTRACT:

Background

Gaucher Disease (GD) is a lysosomal storage disorder. Mutations in the GBA1 gene cause glucocerebrosidase enzyme deficiency that leads to the accumulation of its substrates. Enzyme replacement therapy emerged as a natural history-changing treatment. Up to now, mainly measurable treatment targets have been investigated for patients. In this study, the number of real-life based and GD related events before and after ERT were evaluated for the first time to assess the impact of ERT on GD patients in real-life settings. The events investigated consist of hematopoietic, musculoskeletal, gastrointestinal, neurologic, respiratory system and growth and puberty-related events, as well as events related to routine daily activities, and malignancy.

Results

A total of 29 even

SUBMITTER: Akyuz A 

PROVIDER: S-EPMC12160344 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature