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Recruiting NCT05586243

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

— Observational Gaucher Disease, Type 3

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: No intervention.
Who it may be relevant to
Registry conditions: Gaucher Disease, Type 3. Basic parameters: 18 years — 80 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
United States
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Overview

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.

Interventions

  • Other No intervention
    This is an observational study looking at brain chemicals related to oxidative stress and inflammation using magnetic resonance spectroscopy (MRS).

Primary outcome measures

  • Neurometabolite profile [Time frame: baseline]

Eligibility criteria

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.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Study design

Observational model
Cohort

Study locations

United States · 1 center
  • University of Minnesota — Minneapolis

Identifiers

NCT: NCT05586243 · MEDICAL PROTOCOL (HRP-590)

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗