Brain scan markers studied in adults with type 3 Gaucher disease
Studies brain chemical markers in adults with type 3 Gaucher disease.
Plain-language title generated from the registry record
Registry title: MAGNETIC RESONANCE SPECTROSCOPY BIOMARKERS IN TYPE 3 GAUCHER DISEASE (GD3)
Key facts
- Where
- Minneapolis, United StatesSee the site
Could this be for you?
Answer for yourself. This is not a decision: only the study team can say whether you can take part.
- Are you between 18 and 80 years old?
Source: NCT05586243, who can take part
Where in United States
- University of MinnesotaMinneapolis, United StatesTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- University of Minnesota
- Trial code
- NCT05586243
- Record updated
- 4 August 2026
- Original description
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.Read full original descriptionShow less
MAGNETIC RESONANCE SPECTROSCOPY BIOMARKERS IN TYPE 3 GAUCHER DISEASE (GD3)
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.
Inclusion: 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: 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; Medically unstable conditions as determined by the investigators; 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.