Oxidative Stress and Inflammatory Biomarkers in Gaucher Disease

Novel Inflammatory Biomarkers Complement 5A and Hepcidin in Patients With Gaucher Disease (GD)

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.

Study Overview

• Status: Recruiting
• Conditions: Inflammation; Oxidative Stress; Gaucher Disease Type I

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.

• Study Type: Observational
• Enrollment (Estimated): 35

Contacts and Locations

• Study Contact: Name: Reena Kartha, PhD; Phone Number: 612-626-2436; Email: rvkartha@umn.edu

Study Locations

• United States
  • Minnesota
    • Minneapolis, Minnesota, United States, 55455
      • Recruiting
      • University of Minnesota
      • Contact: Reena Kartha, PhD; Phone Number: 612-626-2436; Email: rvkartha@umn.edu
      • Principal Investigator: Reena Kartha, PhD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 75 years (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• 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.

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Control
• Time Perspectives: Prospective

Number of groups / cohorts

3

Cohorts and Interventions

Group / Cohort
Treatment naive GD1; Type 1 Gaucher disease subjects who are naive to any treatment
Treated GD1; Type 1 Gaucher disease who are stable on therapy (on the specific ERT and/or SRT and specific dose for at least 2 years)
Healthy Volunteers (No longer recruiting); Age matched healthy controls. No new participants will be enrolled to this arm.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change 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	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	6 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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	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	6 months

Collaborators and Investigators

• Sponsor: University of Minnesota
• Investigators: Principal Investigator: Reena Kartha, PhD, University of Minnesota

Study record dates

Study Major Dates

• Study Start (Actual): October 1, 2015
• Primary Completion (Estimated): December 1, 2024
• Study Completion (Estimated): December 1, 2024

Study Registration Dates

• First Submitted: May 4, 2015
• First Submitted That Met QC Criteria: May 4, 2015
• First Posted (Estimated): May 7, 2015

Study Record Updates

• Last Update Posted (Actual): January 30, 2024
• Last Update Submitted That Met QC Criteria: January 28, 2024
• Last Verified: January 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Lipid Metabolism Disorders; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Lipidoses; Lipid Metabolism, Inborn Errors; Inflammation; Gaucher Disease
• Other Study ID Numbers: 1305M34501