Is there treatment for Gaucher disease?
Enzyme replacement therapy (ERT)
Because people with Gaucher disease are deficient in glucocerebrosidase enzymatic activity, the most direct and logical therapeutic approach to this inherited disease is to supplement or to replace the missing enzyme. Dr. Roscoe Brady pioneered the development of this therapy at the National Institute of Neurological Disorders and Stroke. Initial research on the natural glucocerebrosidase enzyme showed that it was not particularly effective when administered by infusion to people with Gaucher disease. The majority of the enzyme did not reach the "Gaucher cells" in the body. Dr. Brady developed a form of the glucocerebrosidase enzyme that was modified to increase targeting and uptake in the macrophages, the cells where the enzyme is needed. Modified glucocerebrosidase enzyme (Ceredase) was evaluated in clinical trials which showed that repeated infusions of the enzyme reduced the signs and symptoms of the disease, and reversed the disease progression. This development was a very exciting one and represented the first true therapeutic breakthrough. Ceredase received FDA approval in 1992.
The production of the modified glucocerebrosidase enzyme using a recombinant cell line has been achieved, clinical testing has shown it to be effective and Cerezyme received FDA approval in November 1996. Since then Ceredase has been phased out and replaced by the recombinant product Cerezyme.
The administration of macrophage-targeted glucocerebrosidase is required at regular intervals throughout an individual's lifetime. As such, the enzyme is an effective therapy, rather than a cure.
In August 2010 a second enzyme replacement therapy, Vpriv (velaglucerase alfa) was licensed for Type 1 Gaucher disease, manufactured by Shire Human Genetics.
In May 2012, the FDA licensed a third enzyme replacement therapy, Elelyso (Taliglucerase alfa) for Type 1 Gaucher disease. This ERT is only available to patients in the United States, an application for a licence in Europe has been submitted to the European Medicines Agency (EMA) and is still awaiting a decison.
Currently enzyme replacement therapy is being used to treat around 10,000 Gaucher sufferers worldwide.
Substrate Reduction Therapy (SRT)
This treatment reduces the amount of fatty substances in our cells and therefore helps to reduce their build up. SRT is an oral therapy, with two products licenced for use in Europe - Zavesca (miglastat Actelion Pharmaceuticals) and Cerdelga (eliglustat Genzyme). Thise products are not suitable for everybody and your specialist doctor will advise if they are right for you.
Click here to read our Frequently Asked Questions about Cerdelga - written independently by medical professionals on the request of The Gauchers Association
There are several clinical trials currently being undertaken in patients with Gaucher disease, see Research Section for further information.
The UK Gauchers Association are delighted to announce that the fund has now been expanded to provide support in other areas of education. Find out more here