Clinical trial NCT02437396: Oxidative Stress and Inflammatory Biomarkers in Gaucher Disease
Official title: Novel Inflammatory Biomarkers Complement 5A and Hepcidin in Patients With Gaucher Disease (GD)
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Gaucher Disease Type I
Oxidative Stress
Inflammation
Lead sponsor: University of Minnesota
Sponsor class: OTHER
First posted: 2015-05-07
Enrollment: 35
Sex: ALL
Minimum age (years): 18
Maximum age (years): 75
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Type 1 Gaucher disease subjects who are either naive to treatment or are stable on therapy (specific Enzyme Replacement Therapy (ERT) / Substrate Reduction Therapy (SRT) formulation at a specific dose) for at least 2 years.

Brief summary: 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.

Detailed description: 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.

Eligibility criteria: 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

Primary outcomes:
measure: Change in Plasma C5a Concentration
timeFrame: 6 months
measure: Change in Plasma Hepcidin Concentration
timeFrame: 6 months
Secondary outcomes:
measure: Change in Blood Glutathione Concentration
timeFrame: 6 months
measure: Change in Plasma Tumor Necrosis Factor (TNF)-alpha Concentration
timeFrame: 6 months
Other outcomes:
Locations:
city: Minneapolis
country: United States
facility: University of Minnesota
state: Minnesota
Study officials:
affiliation: University of Minnesota
name: Reena Kartha, PhD
role: PRINCIPAL_INVESTIGATOR
References: