How is Gaucher disease treated?

Although there is currently no cure for Gaucher disease, treatment can help people manage some of the symptoms of the condition.¹⁰

Currently, Gaucher disease is commonly treated with one of two types of treatment: enzyme replacement therapy (ERT) or substrate reduction therapy (SRT).⁷

Enzyme replacement therapy (ERT)

ERT is currently used to treat most people with Type 1 Gaucher disease. It involves giving people the enzyme that their bodies are missing by infusion into the bloodstream, so the cells and organs can work properly. ERT works by breaking down glucocerebroside. This is the fatty substance that causes Gaucher cells to enlarge, and leads to the signs and symptoms of the condition.⁷

Substrate reduction therapy (SRT)

The goal of SRT is to minimise the production and accumulation of glucocerebroside within cells. SRT works by reducing the amount of glucocerebroside the cells make, so less fatty substance accumulates in the cells. SRT is taken orally (by mouth). It serves as an option for people who cannot use ERT.^7,11