Gaucher Disease: Diagnosis and Treatment

What are the treatments for Gaucher disease?

• Enzyme replacement therapy (ERT) helps replace that missing enzyme with an infusion (medication given through an IV) of the new enzyme.
• Substrate Reduction Therapy (SRT) is an oral medication that helps reduce the amount of glucocerbroside to a level at which the amount of enzyme works and you/your child’s body can break it down.
• Gene therapy is coming soon! Gene therapy is still in clinical trials, but the goal is to correct the gene in your/your child’s body. This way, the correct amount of functioning enzyme could be created.

Who is on my/my child's care team?

You/your child will see a geneticist (doctor who cares for people with genetic conditions) and a hematologist (a doctor who cares for people with blood disorders).

Genetics

• Amel Karaa, MD (MGfC)
• Lauren O’Grady, MS, CGC (MGfC)

Hematology

• David Kuter, MD, DPhil (Massachusetts General Hospital)

Rev. 3/2022. Reviewed by the MGfC Family Advisory Council. Mass General for Children and Massachusetts General Hospital do not endorse any of the brands listed on this handout. This handout is intended to provide health information so that you can be better informed. It is not a substitute for medical advice and should not be used to treatment of any medical conditions.