Functional Assessment of Glucocerebrosidase Modulator Efficacy in Primary Patient-Derived Macrophages is Essential for Drug Development and Patient Stratification

Gaucher disease (GD) is a lysosomal storage disorder caused by mutations in the glucocerebrosidase 1 ( GBA1 ) gene encoding the lysosomal enzyme glucocerebrosidase. Patients with type 1 GD present with accumulation of glucosylceramide in macrophages leading to a range of systemic manifestations,