Oxidative Stress and Inflammatory Biomarkers in Gaucher Disease

NCT ID: NCT02437396

Last Updated: 2025-10-01

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 34 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2015-10-31
• Study Completion Date: 2026-02-28

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.

Conditions

Gaucher Disease Type I; Oxidative Stress; Inflammation

Study Design

• Observational Model Type: CASE_CONTROL
• Study Time Perspective: PROSPECTIVE

Study Groups

Treatment naive GD1

Type 1 Gaucher disease subjects who are naive to any treatment

No interventions assigned to this group

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)

No interventions assigned to this group

Healthy Volunteers (No longer recruiting)

Age matched healthy controls. No new participants will be enrolled to this arm.

No interventions assigned to this group

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

• Minimum Eligible Age: 18 Years
• Maximum Eligible Age: 75 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

University of Minnesota

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Reena Kartha, PhD

Role: PRINCIPAL_INVESTIGATOR

University of Minnesota

Locations

University of Minnesota

Minneapolis, Minnesota, United States

Site Status: RECRUITING

Countries

United States

Central Contacts

Reena Kartha, PhD

Role: CONTACT

rvkartha@umn.edu

612-626-2436

Facility Contacts

Reena Kartha, PhD

Role: primary

rvkartha@umn.edu

(612) 626-2436

Other Identifiers

1305M34501

Identifier Type: -

Identifier Source: org_study_id