Using magnetic resonance spectroscopy to identify biomarkers in Type 3 Gaucher disease
MAGNETIC RESONANCE SPECTROSCOPY BIOMARKERS IN TYPE 3 GAUCHER DISEASE (GD3)
This study is testing if a special brain scan can help find new markers in adults with Type 3 Gaucher disease that show how well treatments are working and how the disease affects them.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 5 (estimated) |
| Ages | 18 Years to 80 Years |
| Sex | All |
| Sponsor | University of Minnesota Academic / other |
| Locations | 1 site (Minneapolis, Minnesota) |
| Trial ID | NCT05586243 on ClinicalTrials.gov |
What this trial studies
This observational study aims to characterize neurometabolite profiles in adult patients with Type 3 Gaucher disease (GD3) using magnetic resonance spectroscopy (MRS). The research focuses on identifying novel biomarkers that can indicate treatment response and evaluating the relationships between these neurometabolites and various disease parameters, including genotype and enzyme levels. By understanding these profiles, the study seeks to enhance the understanding of neurological involvement in GD3 patients.
Who should consider this trial
Good fit: Ideal candidates for this study are adults aged 18 years or older who have been diagnosed with Type 3 Gaucher disease and are medically stable.
Not a fit: Patients who are medically unstable, pregnant, or unable to undergo MRI scanning may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved monitoring and treatment strategies for patients with Type 3 Gaucher disease.
How similar studies have performed: While studies have shown success in using MRS for Type 1 Gaucher disease, this approach in Type 3 Gaucher disease is relatively novel and less understood.
Eligibility criteria
Show full inclusion / exclusion criteria
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.
Where this trial is running
Minneapolis, Minnesota
- University of Minnesota — Minneapolis, Minnesota, United States (Recruiting)
Study contacts
- Study coordinator: Reena Kartha, PhD
- Email: rvkartha@umn.edu
- Phone: 612-626-2436
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.