It is possible to treat type 1 Gaucher disease. Treatment options are governed by the severity and rate of disease progression, which is highly variable from one individual to another. There are no approved treatments for type 2 or type 3 Gaucher disease.
In patients with Gaucher disease, there is excessive accumulation of the substrate glucosylceramide, because the enzyme glucocerebrosidase is either reduced in quantity or not present at all. It is possible to restore the balance by either increasing the amount of enzyme or reducing the amount of substrate.
Enzyme replacement therapy
Enzyme replacement therapy (ERT) was the first therapy to be introduced for Gaucher disease in 1991. The deficient enzyme is given to the patient by intravenous perfusion (usually every 2 weeks), and breaks down the built up substrate, glucosylceramide.
Substrate reduction therapy
Substrate reduction therapy (SRT) involves the oral administration of a small molecule drug that inhibits the first step in the formation of the substrate glucosylceramide. As a result, cells have less glucosylceramide needing to be broken down, and even though the deficiency in the glucocerebrosidase enzyme remains, it is able to keep up with the small amounts of glucosylceramide produced in the cells, and also to break down glucosylceramide that is already stored.
Bone marrow transplantation
Bone marrow transplantation is another therapeutic option to replace damaged blood forming cells. Although this treatment can be helpful in Gaucher disease patients, it is not considered to be an ideal option due to the high morbidity and mortality risk and limited effectiveness.
Please consult your physician or pharmacist for further information.