LAUSR

WHAT IS FABRY DISEASE & WHAT IS THIS STUDY ABOUT? Fabry disease is a rare genetic condition that affects many different cells and organs in the body. People have Fabry disease when they inherit a GLA gene containing an error from one or both of their parents. This causes an enzyme in their body called alpha-galactosidase (also called α-Gal) to not work properly. In people without Fabry disease, a-Gal breaks down fats called glycolipids. In people with Fabry disease, as a-Gal does not work properly, glycolipids build up in the body, particularly in the cells of the kidney, heart, nerves, and the cells that line blood vessels. People who have Fabry disease can receive an enzyme replacement therapy (ERT for short) called agalsidase beta, which acts as a substitute for a-Gal. Although both males and females can have Fabry disease, it generally affects males more severely than females, and symptoms in females can vary significantly. Several researchers have studied the long-term effects of agalsidase beta ERT in males, but there have been fewer studies in females. This study looked at women with Fabry disease who started receiving agalsidase beta treatment when they were at least 18 years old, using information from the Fabry Registry (the largest worldwide database that collects and stores information about people with Fabry disease). The researchers evaluated heart muscle thickness (thickening can be a sign of poor heart health) and kidney function from 5 years before women with Fabry disease started agalsidase beta treatment to 5 years after they started treatment. WHAT WERE THE STUDY RESULTS? Before women with Fabry disease started treatment, their heart muscle tended to thicken over time. After starting treatment, their heart muscle thickening slowed. Kidney function was similar to that of unaffected people both before and after treatment. WHAT DO THE RESULTS OF THE STUDY MEAN? This study provides a unique insight into the effects of agalsidase beta in women with Fabry disease. The findings suggest that agalsidase beta may slow heart muscle thickening and maintain normal kidney function in women with Fabry disease. Clinical Trial Registration: NCT00196742 (ClinicalTrials.gov).