Treatment for Fabry Disease Gets Approved in Japan

According to a story from, the pharmaceutical company Amicus Therapeutics recently announced that its drug Galafold had received official approval for public use in Japan. Galafold is the first oral precision medication for Fabry disease in the country.
Fabry disease is a rare genetic lysosomal storage disease caused by a genetic mutation. A deficiency of a certain protein allow for the build up of glycolipids within the body. Fabry disease patients experience symptoms such as pain, kidney issues, high blood pressure, skin changes, and fatigue. There some treatments available that can slow down the progression of the disease and even provide relief from some symptoms, but there is no complete cure. Patient life expectancy stands at around 58 years old, significantly younger than the normal population. The cause of death of often cardiovascular complications, and many patients will also eventually have to get kidney transplants. To learn more about Fabry disease, click here.

Galafold is specifically meant for the treatment of Fabry disease in patients that are 16 years of age or older and have a compatible mutation. It is estimated that there are over 800 people in Japan that are living with Fabry disease. The treatment will provide a new source of hope for the Fabry disease community in Japan. Most of the developers are confident that many of the patients in the country will have an amenable mutation that will work effectively with the new drug.

It has been over ten years since a new treatment for Fabry disease was introduced in Japan. Galafold has managed to get approval in several countries around the world as well as the European Union. At this juncture, the treatment is still waiting for approval in Taiwan and the U.S.
Galafold is a therapy with a unique mechanism of action that works by stabilizing the body’s supply of the defective enzyme. Once this stability occurs, the body is able to reduce the concentration of built up glycolipids within the body, causing a reduction in symptoms and a slowing of progression. According to developers from Amicus, it is projected that approximately 50 percent of the Fabry disease patient population has mutations that will be responsive to Galafold.

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