The goal of an effective type 1 Gaucher disease treatment is the reduction of glucosylceramide accumulation in the macrophages, with subsequent improvement of the main disease symptoms: organomegaly, thrombocytopenia, anemia and bone manifestations.

This can be achieved in two ways: replacing the missing or defective glucosylcerebrosidase with a genetically engineered enzyme, or reducing the synthesis of the glucosylceramide. The first approach is called enzyme replacement therapy (ERT), the second substrate reduction therapy (SRT).

For many years ERT with intravenous imiglucerase has been the only available therapy. The introduction of SRT with oral miglustat (Zavesca®) has offered a new viable treatment option for patients living with type 1 Gaucher disease.