ClinicalTrials.gov record NCT05586243

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

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Jul 27, 2026

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

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
Age18 years old and older
SexAll
LocationUnited States
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This observational study enrolls adults with type 3 Gaucher disease (GD3) to have a brain magnetic resonance spectroscopy (MRS) scan. The study aims to describe neurometabolite profiles in GD3 and to explore their relationships with disease measures such as genotype and enzyme or biomarker levels.

What it is studying. Whether adult patients with GD3 have characteristic brain neurometabolite patterns measured by magnetic resonance spectroscopy, and how those patterns relate to disease parameters (for example genotype and enzyme/biomarker levels).

What the researchers hope to learn. To characterize neurometabolite profiles (up to 18 metabolites, including N‑acetyl aspartate, glutamate, GABA, myo-inositol, lactate, choline, and glutathione) in people with GD3 and to evaluate relationships between those neurometabolites and disease parameters such as genotype, enzyme levels, and other Gaucher disease biomarkers.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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 being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Other
  • No intervention

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

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 description and what participation involves

The registry record has no detailed description beyond the summary above.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

After giving written informed consent, participants will have a brain magnetic resonance spectroscopy (MRS) scan to measure neurometabolites and will have blood drawn. MRI safety screening is required. Participants must be able to lie still for the scan (the MRI may require more than 30 minutes) and must not have disqualifying implants, pacemakers, or exceed the weight limit stated in the protocol. No investigational treatment is given; this is an observational, cross-sectional study.

How the study is structured. An observational, cross-sectional cohort study. Adult participants with GD3 have a brain MRS scan at a single timepoint to profile neurometabolites; the study also collects disease-related measurements for comparison.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in United States. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on Gaucher disease

Clinical trials64 trials listed for Gaucher diseaseEvery trial the registry lists for Gaucher disease, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in Gaucher disease researchLatest monthly update: September 2026. Includes: Platelet release. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Jan 1, 2023
Primary completion
Dec 31, 2026 (estimated)
Study completion
Dec 31, 2026 (estimated)
Target enrollment
5 participants (estimated)
Last updated on registry
Aug 4, 2026
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
University of Minnesota

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (1)

  • University of MinnesotaRecruiting

    Minneapolis, Minnesota, 55455 · United States

Terms used on this page · explanations by MedicalUpdates.ai

biomarkers
Something measurable in the body, such as a blood test result or an imaging finding, that indicates how a condition or treatment is behaving.
written informed consent
The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
interventional study
A study in which researchers assign participants to one or more interventions, such as a drug, procedure, device, behavioural programme or other approach, to measure their effects.
Magnetic Resonance Imaging
A scan that uses magnets and radio waves, not X-rays, to make detailed pictures of the inside of the body. Some implants and metal objects mean a person cannot have one.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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