The objective of this study is to evaluate oxidative stress and/or inflammation in patients with Gaucher disease type I using a series of biomarkers and correlate with measurements of currently used diagnostic biomarkers.
We will determine oxidative stress and/or inflammation related biomarkers in whole blood and/or plasma in adult subjects with Gaucher disease. Fifteen milliliter blood sample will be collected during three independent visits over a period of approximately 3 months. These samples will be processed to separate plasma from red blood cells and frozen until assays are performed. Standardized immunoassay methods and LC/MS based methods will be adopted to assay a series of biomarkers in these samples. These data will be correlated with currently used diagnostic biomarkers.
Study Type
OBSERVATIONAL
Enrollment
34
University of Minnesota
Minneapolis, Minnesota, United States
RECRUITINGChange in Plasma C5a Concentration
Outcome will be reported as the change in plasma concentration of C5a (ng/ml) from baseline to 6 months in participants with Gaucher disease type 1
Time frame: 6 months
Change in Plasma Hepcidin Concentration
Outcome will be reported as the change in plasma concentration of hepcidin (ng/ml) from baseline to 6 months in participants with Gaucher disease type 1
Time frame: 6 months
Change in Blood Glutathione Concentration
Outcome will be reported as the change in blood concentration of glutathione (umol/g) from baseline to 6 months in participants with Gaucher disease type 1
Time frame: 6 months
Change in Plasma Tumor Necrosis Factor (TNF)-alpha Concentration
Outcome will be reported as the change in blood concentration of TNF-alpha (pg/ml) from baseline to 6 months in participants with Gaucher disease type 1
Time frame: 6 months
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