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

Gaucher Disease, Type 3 Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05586243
• Other study ID #: MEDICAL PROTOCOL (HRP-590)
• Status: Recruiting
• Start date: January 1, 2023
• Est. completion date: January 1, 2025

Study information

• Verified date: April 2024
• Source: University of Minnesota
• Contact: Reena Kartha, PhD
• Phone: 612-626-2436
• Email: rvkartha[@]umn.edu
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 5
• Est. completion date: January 1, 2025
• Est. primary completion date: January 1, 2025
• Gender: All
• Age group: 18 Years to 80 Years

Eligibility

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.

Related Conditions & MeSH terms

• Gaucher Disease
• Gaucher Disease, Type 3

Intervention

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

Locations

Country	Name	City	State
United States	University of Minnesota	Minneapolis	Minnesota

Sponsors (1)

Lead Sponsor	Collaborator
University of Minnesota

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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.	baseline