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, three ERT preparations are approved for the market: Cerezyme© (imiglucerase, manufactured by Genzyme Therapeutics), VPRIV© (velaglucerase alfa, manufactured by Shire Human Genetics) and Elelyso© Taliglucersae alfa, manufactured by Protalix Biotherapeutics and Pfizer). Please note that Elelyso is not licensed for use by the European Medicines Agency (EMA) and therefore is not available in the European Union.
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 or capsule form.
Approved SRT treatments are Zavesca© (miglustat, manufactured by Actelion) as well as Cerdelga© (Eliglustat, manufactured by Genzyme Therapeutics)