Oxidative Stress and Inflammatory Biomarkers in Gaucher Disease


Gaucher disease is the most common lysosomal storage disorder due to a mutation in the lysosomal enzyme, glucocerebrosidase. There is increasing evidence that oxidative stress and/or inflammation contribute to the pathophysiology. In order to evaluate oxidative stress and/or inflammation in patients with Gaucher disease, we will analyze a series of blood biomarkers and correlate them with currently used diagnostic biomarkers of this condition. 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.

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18 Years to 75 Years old
This study is NOT accepting healthy volunteers
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 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). 5. 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. 6. All participants must not have taken antioxidants coenzyme Q-10, vitamin C, or vitamin E for 3 weeks prior to the study.
Exclusion Criteria:
1. Medically unstable conditions in any group as determined by the investigators 2. 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. 3. Females who are pregnant or lactating or of child-bearing age who are not using acceptable forms of contraception 4. History of asthma that is presently being treated 5. Subjects who cannot or are unwilling to have blood drawn 6. Unable to adhere to study protocol for whatever reason

Gaucher Disease Type I, Oxidative Stress, Inflammation

Reena Kartha, PhD -
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