Advanced drug delivery systems in the management of Gaucher disease

Abstract

Gaucher disease (GD) is a rare and second most common lysosomal storage disease affecting up to 1 in 60,000 live births. It is an autosomal recessive disorder that is caused due to mutation in the GBA1 gene. This mutation produces the defective enzymes β-glucocerebrosidase. The deficiency of this enzyme reduces the degradation of glucocerebroside, which results in the accumulation of glucocerebroside in the lysosomes of macrophages. The fat-laden cells (Gaucher cells) are found throughout the body, especially within the liver, spleen, and bone marrow. Common symptoms of GD include hepato-splenomegaly, thrombocytopenia, skeletal abnormalities, and anemia. Three different types of GD, namely type I (GD1), type II (GD2), and type III (GD3) have been observed that are defined by the absence of, or the presence and intensity of neurological problems. Current treatment of GD includes enzyme replacement therapies and substrate reduction therapies. Potential treatments under investigation include pharmacological chaperone therapies, histone deacetylase inhibitors, gene therapy, bone marrow transplant, etc. © 2022 Elsevier Inc. All rights reserved.