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

Sponsor

University of Minnesota (Other)

Overall Status

Not yet recruiting

CT.gov ID

NCT05586243

Collaborator

(none)

Enrollment

Location

Anticipated Duration (Months)

0.2

Patients Per Site Per Month

Study Details

Study Description

Brief 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.

Condition or Disease	Intervention/Treatment	Phase
Gaucher Disease, Type 3	Other: No intervention

Study Design

Study Type:

Observational

Anticipated Enrollment :

5 participants

Observational Model:

Cohort

Time Perspective:

Cross-Sectional

Official Title:

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

Anticipated Study Start Date :

Jan 1, 2023

Anticipated Primary Completion Date :

Jan 1, 2025

Anticipated Study Completion Date :

Jan 1, 2025

Outcome Measures

Primary Outcome Measures

Neurometabolite profile [baseline]
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.

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years to 80 Years

Sexes Eligible for Study:

All

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.

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	University of Minnesota	Minneapolis	Minnesota	United States	55455

Sponsors and Collaborators

University of Minnesota

Investigators

None specified.

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

Responsible Party:

University of Minnesota

ClinicalTrials.gov Identifier:

NCT05586243

Other Study ID Numbers:

MEDICAL PROTOCOL (HRP-590)

First Posted:

Oct 19, 2022

Last Update Posted:

Oct 19, 2022

Last Verified:

Oct 1, 2022

Individual Participant Data (IPD) Sharing Statement:

Plan to Share IPD:

Studies a U.S. FDA-regulated Drug Product:

Studies a U.S. FDA-regulated Device Product:

Additional relevant MeSH terms:

Gaucher Disease

Study Results

No Results Posted as of Oct 19, 2022