About Gaucher Disease
Gaucher Disease – Therapies
There are 2 different types of therapies for Gaucher patients however only enzyme replacement therapy (ERT) is available in Australia & New Zealand. There are also gene therapy and chaperon therapy that are in development phase and there are also 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 Genzyme Therapeutics)
VPRIV© (velaglucerase alfa, manufactured by Shire Human Genetics)
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.
At this stage Cerdelga© (Eliglustat, manufactured by Genzyme Therapeutics) has been approved by the TGA but not as yet available in Australia or NZ.
How is treatment covered
The Federal Department of Health’s Life Saving Drug Program (LSDP) funds the treatment for Gaucher Disease, subject to the guideline conditions.
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.