MAGNETIC RESONANCE SPECTROSCOPY BIOMARKERS IN TYPE 3 GAUCHER DISEASE (GD3)
ConditionGaucher Disease, Type 3
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18-80
SponsorUniversity of Minnesota
About this trial
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
This trial does not accept healthy volunteersQualifiers
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.
Disqualifiers
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.
Trial population
Participants with GD3
Trial design
Design model
Cohort
Time perspective
Cross-sectional
Treatments tested in this trial
No intervention
Other interventionThis is an observational study looking at brain chemicals related to oxidative stress and inflammation using magnetic resonance spectroscopy (MRS).
Treatment groups
No treatment groups listed
Trial outcomes
Primary outcomes
1
Neurometabolite profile
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.
Time frame
baselineSponsors and contacts
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Source ClinicalTrials.gov