8. Gaucher Disease Treatment Options Overview

Due to the genetic nature of Gaucher there is currently no cure available. With this in mind, the ultimate goal of any treatment is to reduce the accumulation of the toxic substrate glucocerebroside and other glycolipids to prevent progressive disease with serious complications. This can be achieved either by Enzyme Replacement Therapy (ERT) or Substrate reduction therapy (SRT).

  • Enzyme Replacement Therapy (ERT) for Gaucher disease is designed to replace a specific defective or missing lysosomal enzyme (β-glucocerebrosidase). The replacement enzyme helps break down the glycosphingolipid substrate thereby preventing accumulation of the storage material and subsequent tissue damage.

  • Substrate Reduction Therapy (SRT) is an approach used to treat LSDs by inhibiting the synthesis of substrate and subsequent influx into the lysosomes. In Gaucher disease, SRT reduces the rate of glycosphingolipid substrate production and thus lysosomal accumulation. 
  • Symptomatic Treatment. In addition to ERT and/or SRT, supportive care to alleviate symptoms of Gaucher disease is an important part of disease management, and should be provided by a multidisciplinary team with expertise in Gaucher. 







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