Oxidative Stress and Inflammatory Biomarkers in Gaucher Disease

NCT02437396 | Recruiting

• 1 other identifier: 1305M34501
• Study Type: observational
• Target: 34
• Locations: 1 country
• Sites: 1

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

Outcome Measures

Primary Outcomes (2)

• 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 Outcomes (2)

• Change in Blood Glutathione Concentration

  6 months

• Change in Plasma Tumor Necrosis Factor (TNF)-alpha Concentration

  6 months

Study Arms (3)

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.

Eligibility Criteria

• Age: 18 Years - 75 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• All participants must be 18 years or older.
• 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.
• Individuals with Gaucher disease who are medically stable for participation in study in the opinion of the investigator.
• 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).
• 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.
• All participants must not have taken antioxidants coenzyme Q-10, vitamin C, or vitamin E for 3 weeks prior to the study.

You may not qualify if:

• Medically unstable conditions in any group as determined by the investigators
• 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.
• Females who are pregnant or lactating or of child-bearing age who are not using acceptable forms of contraception
• History of asthma that is presently being treated
• Subjects who cannot or are unwilling to have blood drawn
• Unable to adhere to study protocol for whatever reason

Sponsors & Collaborators

• University of Minnesota: lead

Study Sites (1)

University of Minnesota

Minneapolis, Minnesota, 55455, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITHOUT DNA

Blood samples

MeSH Terms

Conditions

Gaucher Disease; Inflammation

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Reena Kartha, PhD

  University of Minnesota

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Reena Kartha, PhD

CONTACT

612-626-2436; rvkartha@umn.edu

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 4, 2015
• First Posted: May 7, 2015
• Study Start: October 1, 2015
• Primary Completion (Estimated): June 28, 2026
• Study Completion (Estimated): June 28, 2026
• Last Updated: March 19, 2026

Record last verified: 2026-03

Locations

US (1)