Reena Kartha, PhD, Associate Director of Translational Pharmacology at UMN’s Center of Orphan Drug Research (CODR), discusses research being done at CODR.

As Dr. Kartha explains, her primary interest is in inherited metabolic disorders such as Gaucher disease. Gaucher disease is a rare lysosomal storage disorder in which glucocerebroside accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen. 

Currently, Dr. Kartha and her team are working with Gaucher disease experts with the hope to study biomarkers in treated and untreated Gaucher patients. Additionally, a clinical study is in progress assessing the role of oxidative stress and inflammation in Gaucher patients. Interim analysis data from this study suggests N-acetylcysteine, an antioxidant, has protective properties against oxidative stress and inflammation for Gaucher patients, though further research is needed to confirm these results. Dr. Kartha also discusses other research being done as an offshoot of this study looking at how directly N-acetylcysteine interacts with the mutated GBA enzyme. Current preliminary evidence from this research suggests that N-acetylcysteine does directly bind to the GBA protein. 

For more information about Gaucher disease and other lysosomal storage disorders, visit checkrare.com/diseases/lysosomal-storage-disorders/