Oxidative Stress and Inflammatory Biomarkers in Gaucher Disease

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.

Inclusion criteria

• All participants must be 18 years or older.
• All enrollees must understand and cooperate with requirements of the study in the opinion of the investigators and must be able to provide written informed consent.
• Individuals with Gaucher disease who are medically stable for participation in study in the opinion of the investigator.
• GD subjects must be stable on a specific ERT and/or SRT therapy at a specific dose (for e.g. on a units/kg basis) for at least 2 years or be naïve to these therapies (no therapy for 2 years).
• GD1 patients, who have had a change in therapy i.e. a change in dose or switch from one drug to another, can be enrolled after at least 6 months have elapsed since the change and is considered stable in the opinion of the clinician providing care to the patient.
• All participants must not have taken antioxidants coenzyme Q-10, vitamin C, or vitamin E for 3 weeks prior to the study.

Exclusion criteria

• Medically unstable conditions in any group as determined by the investigators
• Concurrent disease; medical condition; or an extenuating circumstance that, in the opinion of the investigator, might compromise subject safety, study compliance, completion of the study, or the integrity of the data collected for the study.
• Females who are pregnant or lactating or of child-bearing age who are not using acceptable forms of contraception
• History of asthma that is presently being treated
• Subjects who cannot or are unwilling to have blood drawn
• Unable to adhere to study protocol for whatever reason