Pharmacotherapies for Gaucher disease: what's new on the horizon?

Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder that results in the accumulation of glucosylceramide (GluCer) within macrophages. Current treatments for GD include enzyme replacement therapy (ERT) or substrate reduction therapy (SRT) to reduce the total amount of GluCer and improve organ function.

We review the two main FDA approved therapies for GD, ERT and SRT, including advances in ERT/SRT delivery and new clinical trials using Pubmed and trial databases. New and emerging therapies for GD are discussed in depth, including pre-clinical and clinical studies of small molecule drugs, gene therapy, and nanotechnology. An overview of current clinical trials for GD is provided.

Current therapies have vastly improved the health and quality of life for patients. Future efforts in therapeutic development should focus primarily on brain penetrant therapies that will ameliorate neuronopathic GD as well as GBA1-related Parkinson disease. These therapies should be assessed using specific biomarkers that are well validated through advances in translational research.