Recruiting

Observational Study

Sponsor:

University of Minnesota

Code:

NCT02437396

Conditions

Gaucher Disease Type I

Oxidative Stress

Inflammation

Eligibility Criteria

Sex: All

Age: 18 - 70+

Healthy Volunteers: Not accepted

Study Details

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.

Conditions

Gaucher Disease Type I

Oxidative Stress

Inflammation

Study ID

NCT02437396

Start date

Oct, 2015

Status verified date

Jul, 2026

Completion date

Oct 30, 2026

Anticipated

Primary completion date

Oct 30, 2026

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 18 - 70+

Healthy Volunteers: Not accepted

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 Design

Enrollment

34 participants

Anticipated

Interventions and Outcome Measures

Arms

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.

Primary outcome measure

  • Change in Plasma C5a Concentration [ Time Frame: 6 months ]
  • Change in Plasma Hepcidin Concentration [ Time Frame: 6 months ]

Central Contacts and Locations

Central contacts

Locations

University of Minnesota

Recruiting

Minneapolis, Minnesota, United States, 55455

Contacts

Principal Investigator:

Reena Kartha, PhD

More Information

Sponsor

University of Minnesota

Last update posted

Jul 13, 2026

Last verified

Jul, 2026

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by University of Minnesota on 2026-07-13.