About Gaucher Disease

Treatment Options

Gaucher Disease – Therapies

There are 2 different types of therapies for Gaucher patients, with three forms of enzyme replacement therapy (ERT) available in Australia & New Zealand, and one form of substrate reduction therapy (SRT) available in Australia. There are also gene therapy and chaperon therapy that are in development phase with clinical trials being undertaken in Gaucher patients around the world.

Enzyme Replacement Therapy (ERT)

With ERT, the missing or deficient enzyme (glucocerebrosidase) is replaced with a functional enzyme. This enzyme takes over the function of patient’s deficient enzyme and breaks down the accumulated enzyme’s substrate (glucocerebroside). Enzyme is administered intravenously at regular intervals throughout an individual’s lifetime – generally every 2 weeks.

Currently, three ERT preparations are approved on the Life Saving Drugs Program in Australia:

Cerezyme© (imiglucerase, manufactured by Sanofi Genzyme)  

VPRIV© (velaglucerase alfa, manufactured by Takeda)

Elelyso©  (Taliglucersae alfa, manufactured by Protalix)

In New Zealand only Elelyso is available to patients

Substrate Reduction Therapy (SRT)

Most patients with Gaucher disease have some residual enzyme function. The aim of SRT is to reduce the formation of the enzyme substrate (glucocerebroside), as the enzyme involved in its synthesis is inhibited by a small molecule. As a result, cells form less substrate and their own residual enzyme activity reduces substrate accumulation. These SRT’s are small molecules that can be administered orally, in a tablet or capsule form. SRT is not suitable for all patients.

Cerdelga© (Eliglustat, manufactured by Sanofi Genzyme) has been approved on the Life Saving Drugs Program in Australia.

How is treatment covered

In Australia

The Federal Department of Health’s Life Saving Drug Program (LSDP) funds the treatment for Gaucher Disease, subject to the guideline conditions. More information can be found regarding the LSDP and these guidelines here.

In New Zealand

Pharmac is the New Zealand government agency that decides which pharmaceuticals to publicly fund medication in NZ. Pharmac funds treatment for Gaucher subject to the guideline conditions.