What is Enzyme Replacement Therapy (ERT)

The CATS Foundation

One of the main research areas into treating Tay-Sachs is by using enzyme replacement therapy (ERT). Although this form of treatment is still in its infancy it is hoped that clinical trials into its use will begin by 2013. Therefore it is important to understand what ERT is and how it works.


An explanation of ERT is shown below:

“Enzyme replacement therapy (ERT) is a medical treatment replacing an enzyme in patients in whom that particular enzyme is deficient or absent. Usually this is done by giving the patient an intravenous (IV) infusion containing the enzyme.”

Although the above seems relatively simple the procudre itself is very difficult in those diseases which result in low levels of enzyme production in the brain.

Enzyme replacement therapy and Tay-Sachs

Enzyme replacement therapy has been used effectively to treat other lysosomal storage diseases such as Gaucher disease, Fabry disease, and MP1. However, with those disease which involve enzymes needed in the brain there has not been as much success – this is due to factors such as the blood brain barrier, the foreign object response of the white blood cells and the quality of enzymes needed and which can be produced.

However, the current research into using enzyme replacement therapy (ERT) for the treatment of Tay-Sachs has been very encouraging and it is believed that it may soon be possible to use ERT to tackle the disease.

Research into using ERT to treat Tay-Sachs

To read the research paper titled “Effective gene therapy in an authentic model of Tay-Sachs related diseases” click here.

Daniel is the father of a little girl called Amelie who was diagnosed with Tay-Sachs in March 2011 when she was 15 months old. After slowly coming to terms with what the future held, Daniel, his wife Patricia and their friends started THE CATS FOUNDATION to raise awareness of the disease and to provide fund raising opportunities so that a potential treatment can be found.

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