Fabry Disease: Diagnosis and Treatment

What are the treatments for Fabry disease?

• Enzyme replacement therapy (ERT) helps replace that missing alpha-galactosidase enzyme with an infusion of new enzyme.
• Chaperone therapy aims to help what little alpha-galactosidase enzyme is in the body to work as hard as it can. This is an oral medication.
• Gene therapy is coming soon! Gene therapy is still in clinical trials, but the goal would be to correct the gene in the 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 (genetics doctor), cardiologist (heart doctor), nephrologist (kidney doctor), neurologist (brain and nervous system doctor) and a gastroenterologist (digestive tract, stomach and intestine doctor).

Genetics

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

Cardiologists

• Michael Fifer, MD (Mass General)
• Steven Lubitz, MD, MPH (Mass General)
• Albree Tower-Rader, MD (Mass General)

Nephrologist

• Andrew Lundquist, MD, PhD (Newton-Wellesley Hospital and Mass General)

Neurologist

• Natalia Rost, MD (Mass General)

Gastroenterologists

• Braden Kuo, MD, MSc (Mass General)
• Claire Zar-Kessler, MD (MGfC)

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.