Gaucher disease is a rare inherited lysosomal storage disorder that is characterized by a wide range of symptoms.

Gaucher disease patients have a mutation in the GBA gene that provides instructions to build the enzyme beta-glucocerebrosidase (GCase). GCase breaks down the fatty substance glucocerebroside. The mutation causes either a dysfunction or deficiency of the enzyme, which leads to an accumulation of glucocerebroside in different tissues and organs such as the spleen, liver, bone marrow, and lungs.

The standard treatments are enzyme replacement therapy and substrate reduction therapy, which both work by reducing the amount of glucocerebroside, but through different mechanisms.

Enzyme replacement therapy

Enzyme replacement therapy is intended to replace the defective GCase enzyme with a functional one. The functional enzyme is delivered into the bloodstream through a vein. This process takes between one and two hours and has to be repeated every two weeks.

Because the enzymes cannot cross the blood-brain barrier, enzyme replacement therapy is only effective for non-neuronopathic forms of Gaucher disease and cannot prevent the progression of brain damage that occurs in Gaucher disease types 2 and 3.

Cerezyme (imiglucerase) by Sanofi Genzyme, VPRIV by Shire, and Elelyso (taliglucerase alfa) by Pfizer are U.S. Food and Drug Administration (FDA)-approved enzyme replacement therapies for Gaucher disease.

Substrate reduction therapy

Substrate reduction therapy inhibits the synthesis of glucocerebroside, the fatty substance that is broken down by GCase. Consequently, there are fewer waste products to be removed by GCase. Substrate reduction therapy can be combined with enzyme replacement therapy. The treatment is less invasive than enzyme replacement therapy because it is taken orally.

Cerdelga (eliglustat) by Sanofi Genzyme is used as first-line treatment for patients with type 1 Gaucher disease. Zavesca (miglustat) by Actelion Pharmaceuticals is used for the treatment of patients with mild to moderate type 1 Gaucher disease who cannot be treated with enzyme replacement therapy.

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Gaucher Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
Sarah Neidler Editor
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Sarah Neidler Editor