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

Last updated: February 2, 2025
Sponsor: University of Minnesota
Overall Status: Active - Recruiting

Phase

N/A

Condition

Gaucher Disease

Treatment

No intervention

Clinical Study ID

NCT05586243
MEDICAL PROTOCOL (HRP-590)
  • Ages 18-80
  • All Genders

Study 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.

Eligibility Criteria

Inclusion

Inclusion Criteria:

  • All participants must be 18 years or older.

  • All enrollees must understand and cooperate with requirements of the study in theopinion of the investigators and must be able to provide written informed consent.

  • Individuals with GD3 who are medically stable for participation in study in theopinion of the investigator.

Exclusion

Exclusion Criteria:

  • Medically unstable conditions as determined by the investigators.

  • Concurrent disease; medical condition; or an extenuating circumstance that, in theopinion 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 usingacceptable 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 notlimited to unable to remain still in an MRI scanner for more than 30 minutes,claustrophobia, presence of paramagnetic substances or pacemakers in body, weightover 300 lbs.

  • Unable to adhere to study protocol for whatever reason.

Study Design

Total Participants: 5
Treatment Group(s): 1
Primary Treatment: No intervention
Phase:
Study Start date:
January 01, 2023
Estimated Completion Date:
June 30, 2025

Connect with a study center

  • University of Minnesota

    Minneapolis, Minnesota 55455
    United States

    Active - Recruiting

Not the study for you?

Let us help you find the best match. Sign up as a volunteer and receive email notifications when clinical trials are posted in the medical category of interest to you.