Is there treatment for Gaucher disease?
Enzyme replacement therapy
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 (Zavesca)
The alternative treatment for Gaucher is known as substrate reduction therapy, currently in the form of miglustat (Zavesca®). Miglustat is an oral treatment taken in tablet form, usually three times a day. Miglustat works in a totally different way to ERT as it reduces the rate at which the glucosylceramide is made, thereby slowing down the swelling of the Gaucher cells. It aims to reduce the amount of undigested glucosylceramide to a level that can be cleared naturally by the body, despite its reduced ability to do so. Doctors can currently prescribe miglustat tablets for adults with mild or moderate Type 1 Gaucher if the patients are unsuitable for ERT treatment. This means people with Type 1 Gaucher who are unable or unwilling to have ERT. For example, an individual may not want to have infusions due to a fear of needles or because they do not have easily accessible veins, which leads them to have persistent difficulties with infusions. However, it can also be because they travel frequently with their job and find it difficult to fit regular infusions into their schedule. Miglustat can be taken by both newly diagnosed patients and patients who have previously been on ERT for a long time.
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