Fabry disease is a rare genetic disorder which causes a deficiency of the alpha-galactosidase A enzyme. This enzyme helps to break down sphingolipids, and prevents these fat-like substances from collecting in blood vessels and tissue. Without this enzyme, lipids deposits build up and affect the heart, kidneys, brain, central nervous system and skin.

Classic Fabry disease symptoms appear in childhood, with a burning sensation in hands and feet being common. People living with atypical Fabry disease may not experience symptoms until their 30s or older. The first indication of this disease can be organ failure.

Empatica and Takeda collaborated to create a digital biomarker for Fabry Disease, a rare genetic disorder causing severe complications, the most common of which is absent or reduced sweating. Empatica’s EmbracePlus wearable was employed to explore the correlation between Electrodermal Activity (EDA) and sweat patterns. The data was used to develop an algorithm that could accurately distinguish low and high sweating subjects with a sensitivity of 77.27% and a specificity of 75.86%. The study was the first of its kind, and indicates the potential of EmbracePlus as a potentially pivotal tool in Fabry Disease diagnosis. Its ability to provide precise data through digital biomarkers marks a significant step forward in rare disease management, enhancing diagnostic accuracy and patient outcomes.

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