Monitoring brain metabolism using advanced imaging techniques

Brain Metabolism Observed at 7 Tesla in Health and Metabolic Disease.

This study is testing a new way to monitor how the brain uses energy in people with Glut1 Deficiency Syndrome by using advanced imaging techniques to see how certain labeled nutrients are processed.

Quick facts

• Study type: Observational
• Enrollment: 20 (estimated)
• Ages: 16 Years to 65 Years
• Sex: All
• Sponsor: University of Texas Southwestern Medical Center (Academic / other)
• Locations: 1 site (Dallas, Texas)
• Trial ID: NCT05085704 on ClinicalTrials.gov

What this trial studies

This observational study aims to develop a methodology for monitoring the flux in the citric acid cycle in the brain using 13C nuclear magnetic resonance (NMR) spectroscopy at 7 Tesla. The protocol involves 13C-labeling of physiological molecules such as glucose, lactate, and pyruvate to study their oxidation patterns in both control subjects and those with Glut1 Deficiency Syndrome. Participants will undergo a 7T MRI exam to correlate the spectroscopy results with brain structure, enhancing our understanding of glucose metabolism disorders. The study focuses on adolescents and adults aged 16 to 65 with a confirmed diagnosis of Glut1 Deficiency.

Who should consider this trial

Good fit: Ideal candidates include adolescents and adults aged 16 to 65 with a genetically confirmed diagnosis of Glut1 Deficiency.

Not a fit: Patients with uncontrolled seizure disorders or those who are pregnant will not benefit from this study.

Why it matters

Potential benefit: If successful, this study could provide insights into brain metabolism that may lead to improved management of Glut1 Deficiency and related glucose metabolism disorders.

How similar studies have performed: While this approach is innovative, similar studies using advanced imaging techniques have shown promise in understanding metabolic disorders.

Eligibility criteria

Inclusion Criteria:

1. Adolescents and adults with previously documented diagnosis of Glut1 Deficiency with diagnosis genetically confirmed or confirmed by PET scan of the brain.
2. Ages 16 to 65
3. Persons with dental fillings, dental crowns, and short (max.4 cm) dental retainer wires can be included.

Exclusion Criteria:

1. People or patients with uncontrolled seizure disorder, defined as grand mal (not absence) seizure in the preceding 3 months.
2. Pregnant females will be excluded. A serum or urine pregnancy test will be administered to all females of child bearing potential within 24 hours of administration of the tracer and MRI scan. The pregnancy test will be communicated in person by the study PI. Positive results in subjects 17 years old or younger will be disclosed to parent/guardian only.
3. Subjects with typical implanted orthopedic metal in bone may be considered for inclusion in a 7T scan providing the implant is not within the volume of the radio frequency coil. The PI and the AIRC Medical Director will discuss each case and determine eligibility.
4. Persons with ICD, pacemakers, neurostimulators and other such devices will be excluded.
5. Persons with claustrophobia are excluded.
6. Persons with questionable ferrous implants, bullets, BB's, and shrapnel will be excluded.
7. Subjects who are not fluent in English will be excluded because immediate cooperation and the ability to respond to instructions from the investigators are necessary.

Where this trial is running

Dallas, Texas

• UT Southwestern Medical Center — Dallas, Texas, United States (Recruiting)

Study contacts

• Study coordinator: Juan M Pascual, M.D.

Conditions Glut1 Deficiency Syndrome 1; Glucose Metabolism Disorders; Epilepsy; Glut1 Deficiency Syndrome 1, Autosomal Recessive; Glucose Transporter Type 1 Deficiency Syndrome; Glucose Transporter Protein Type 1 Deficiency Syndrome; Glucose Transport Defect