Monitoring Brain Metabolism Using 13C NMR Spectroscopy at 3 Tesla or 7 Tesla in Healthy and Glut1 Deficiency Adults and Adolescents

What this Trial Is About

Researchers are studying brain metabolism by monitoring the citric acid cycle using 13C nuclear magnetic resonance NMR spectroscopy at magnetic field strengths of 7 Tesla and 3 Tesla. The study aims to develop a method to track how certain molecules like glucose, lactate, and pyruvate are labeled with 13C and oxidized in the brain, comparing individuals with Glut1 Deficiency Syndrome G1D and healthy controls. Participants will undergo an infusion of 13C-labeled glucose, after which NMR spectroscopy will be performed to observe metabolite levels immediately at both 7T and 3T field strengths. During the same visit, participants may also have a 7T or 3T MRI scan to examine brain structure and correlate it with the metabolic data collected. Those taking part will be assessed through imaging scans and blood analysis to measure the labeled metabolites and related compounds. The study measures include the abundance of select metabolites immediately following the isotope infusion. Participants are monitored for safety and cooperation during the scans, and the total involvement spans the time needed on the day of the infusion and imaging procedures.

Brain Metabolism Observed at 3 Tesla or 7 Tesla in Health and Metabolic Disease