Jörg Köhl, MD, Professor and Director at the Institute for Systemic Inflammation Research and Chairman at the Center for Infectiology and Inflammation Research Lübeck (ZIEL), discusses upcoming research on the complement system as a diagnostic tool and/or severity measure for lysosomal storage disorders (LSDs) like gaucher.

As Dr. Köhl explains, ZIEL is currently investigating the role the complement system plays in LSDs. A clinical study is being conducted, looking at patients with LSDs, including gaucher, who are either receiving enzyme replacement therapy or not currently receiving therapy. According to Dr. Köhl, the data look promising and suggest complement activation in gaucher disease as previous research has shown. Additionally, the data suggest there is complement activation when the cascade of glycosphingolipids is altered or if there is build up of sphingolipids in the cell, which are both hallmarks of LSDs. 

To learn more about gaucher disease and other LSDs, visit https://checkrare.com/diseases/lysosomal-storage-disorders/