Therapies

For the treatment of Gaucher disease

Two different types of therapies for Gaucher patients are currently approved:

• enzyme replacement therapy (ERT)
• substrate reduction therapy (SRT)

Other treatment options, e.g. gene therapy and chaperone therapy, are in the development phase. There are also several clinical trials currently being undertaken in patients with Gaucher disease.

Enzyme replacement therapy

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.

Currently, two ERT preparations are approved for the market: Cerezyme© (imiglucerase, manufactured by Genzyme Therapeutics) and VPRIV© (velaglucerase alfa, manufactured by Shire Human Genetics).

Substrate reduction therapy

In the SRT, the formation of the enzyme substrate (glucocerebroside) is inhibited by a small molecule. As a result, cells have less substrate and its accumulation is stopped. Small molecule is administered orally, in a tablet form.

Approved SRT treatment is Zavesca© (miglustat, manufactured by Actelion).