Oxidative Stress-Related Biomarkers in Gaucher Disease: A Preliminary Study

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:

1. All participants must be 18 years or older.

2. 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.

3. Individuals with Gaucher disease who are medically stable for participation in study
in the opinion of the investigator.

4. GD subjects should be stable on a specific ERT and/or SRT therapy at a specific dose
(at least 2 years) or be naïve to these therapies (no therapy for 2 years).

5. Healthy control subjects

Exclusion Criteria:

1. Medically unstable conditions in any group as determined by the investigators

2. Pregnant or lactating or those women of child-bearing age that are not using
acceptable forms of contraception

3. History of asthma that is presently being treated or past history of
asthma/bronchospasm resulting in an emergency room visit, hospitalization or treatment

4. Patients who cannot or are unwilling to have blood drawn

5. Unable to adhere to study protocol for whatever reason