Recruiting

Observational Study

Sponsor:

University of Minnesota

Code:

NCT05586243

Conditions

Gaucher Disease, Type 3

Eligibility Criteria

Sex: All

Age: 18 - 70+

Healthy Volunteers: Not accepted

Interventions

No intervention

Study Details

Brief summary:

Recent studies have has shown that magnetic resonance spectroscopy (MRS) can provide validated neuronal markers in patients with Type 1 GD (GD1) who are on stable therapy. However, alterations in neurometabolites in adult patients with GD3, who have established neurological involvement, are not well understood. The goal of this study is to characterize neurometabolite profiles in adult patients with GD3 using MRS to identify novel biomarkers that can demonstrate treatment response. Additionally, a secondary aim is to evaluate relationships between neurometabolites and disease parameters, such as genotype, enzyme levels and Gaucher disease (GD) biomarkers.

Conditions

Gaucher Disease, Type 3

Study ID

NCT05586243

Start date

Jan 1, 2023

Status verified date

Jul, 2026

Completion date

Dec 31, 2026

Anticipated

Primary completion date

Dec 31, 2026

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 18 - 70+

Healthy Volunteers: Not accepted

Inclusion Criteria:

  • 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 GD3 who are medically stable for participation in study in the opinion of the investigator.

Exclusion Criteria:

  • Medically unstable conditions 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.
  • Women who are pregnant or lactating or of child-bearing age that are not using acceptable forms of contraception.
  • Patients enrolled in another interventional study.
  • Patients who cannot or are unwilling to have blood drawn.
  • Inability to undergo Magnetic Resonance Imaging (MRI) scanning, including but not limited to unable to remain still in an MRI scanner for more than 30 minutes, claustrophobia, presence of paramagnetic substances or pacemakers in body, weight over 300 lbs.
  • Unable to adhere to study protocol for whatever reason.

Study Design

Enrollment

5 participants

Anticipated

Interventions and Outcome Measures

Interventions

No intervention

This is an observational study looking at brain chemicals related to oxidative stress and inflammation using magnetic resonance spectroscopy (MRS).

Primary outcome measure

  • Neurometabolite profile [ Time Frame: baseline ]

Central Contacts and Locations

Central contacts

Reena Kartha, PhD

612-626-2436rvkartha@umn.edu

Raghu Sharma, PhD

rsharma@umn.edu

Locations

University of Minnesota

Recruiting

Minneapolis, Minnesota, United States, 55455

Contacts

Reena V. Kartha, Ph.D

612-626-2436rvkartha@umn.edu

Principal Investigator:

Reena Kartha, Ph.D

More Information

Sponsor

University of Minnesota

Last update posted

Aug 4, 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 2026-08-04.