The two main ways of treating type 1 Gaucher disease are called enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). These work in very different ways to help stop the build-up of glucosylceramide in the cells. There are also a lot of other different treatments that are used to help manage symptoms and prevent any further damage to a patient’s health.
Enzyme replacement therapy
Enzyme replacement therapy (ERT) aims to provide patients with the correct amount of enzyme to help remove the fatty substance in their cells, which will then allow the cells to work properly and will help to manage the symptoms of Gaucher disease. This type of treatment can help with the main symptoms of Gaucher disease, but it is not able to treat the brain and nervous system problems that occur in Gaucher disease type 2 and 3. More research is taking place to improve treatment for these problems.
ERT is injected slowly into the bloodstream through a vein usually in the arm or hand. This is called an ‘intravenous infusion’ (or IV infusion for short).
Substrate reduction therapy
Substrate reduction therapy (SRT) is an available treatment, alternative to ERT. SRT works by decreasing the production of glucosylceramide (GL-1) by cells, so preventing its build up. Since many people with Gaucher disease usually have at least some acid-β glucosidase enzyme that is still active, their bodies may be able to remove the smaller amounts of GL-1. SRT can be taken as tablets or capsules which are taken orally, usually two or three times a day depending on the product used and doctor’s instructions.
People with Gaucher disease may need to take other medicines and receive other therapies to help with particular symptoms. These could include:
- painkillers to manage any pain
- vitamins and mineral supplements to look after bones and blood
- drugs called bisphosphonates to help build up bone strength
- antibiotics to treat infections.
Gene therapy and small molecule pharmacological chaperone therapy (sometimes called enzyme enhancement therapy) are also being studied to see if they can help make the treatment of Gaucher disease even better in the future.
More information about treatment
For more information about treatment for Gaucher disease, you should consult your doctor. In case you experience any adverse event during any treatment for Gaucher disease, please contact your treating physician immediately.