Gaucher Disease, Type 3
Conditions
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.
Interventions
OTHERNo intervention
This is an observational study looking at brain chemicals related to oxidative stress and inflammation using magnetic resonance spectroscopy (MRS).
Sponsors
University of Minnesota
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
18 Years to 80 Years
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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. |
Countries
United States
Contacts
CONTACTReena Kartha, PhD
CONTACTRaghu Sharma, PhD
Outcome results
None listed