MAGNETIC RESONANCE SPECTROSCOPY BIOMARKERS IN TYPE 3 GAUCHER DISEASE (GD3)

January 5, 2026 updated by: University of Minnesota
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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Estimated)

5

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • United States
    • Minnesota
      • Minneapolis, Minnesota, United States, 55455
        • Recruiting
        • University of Minnesota
        • Contact:
        • Sub-Investigator:
          • Gulin Oz, Ph.D
        • Sub-Investigator:
          • Kyle Rudser, Ph.D
        • Sub-Investigator:
          • Jaehyeok Roh, Pharm.D
        • Principal Investigator:
          • Reena Kartha, Ph.D

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years to 80 years (Adult, Older Adult)

Accepts Healthy Volunteers

N/A

Sampling Method

Non-Probability Sample

Study Population

Participants with GD3

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Cross-Sectional

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Neurometabolite profile
Time Frame: baseline
Characterize neurometabolite profiles of up to 18 metabolites including N-acetyl aspartate (a validated biomarker of neuronal integrity), glutamate and GABA (neurotransmitters), myo-inositol, glutamine, lactate and choline (inflammation biomarkers) and glutathione (anti-oxidant) in individuals with GD3.
baseline

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University of Minnesota

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 1, 2023

Primary Completion (Estimated)

July 31, 2026

Study Completion (Estimated)

July 31, 2026

Study Registration Dates

First Submitted

October 16, 2022

First Submitted That Met QC Criteria

October 16, 2022

First Posted (Actual)

October 19, 2022

Study Record Updates

Last Update Posted (Estimated)

January 8, 2026

Last Update Submitted That Met QC Criteria

January 5, 2026

Last Verified

January 1, 2026

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • MEDICAL PROTOCOL (HRP-590)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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