Brain Metabolism Observed at 7 Tesla

Epilepsy Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05085704
• Other study ID #: STU-2021-0560
• Status: Recruiting
• Start date: May 3, 2022
• Est. completion date: September 20, 2026

Study information

• Verified date: October 2023
• Source: University of Texas Southwestern Medical Center
• Contact: Juan M Pascual, M.D.
• Phone: 214-648-4591
• Email: rare.diseases[@]utsouthwestern.edu
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

The goal is to develop methodology to monitor flux in the citric acid cycle in brain via 13C nuclear magnetic resonance (NMR) spectroscopy at 7 Tesla.

Description:

The goal is to establish a protocol to 13C-label (from 13C-glucose) several physiological molecules: glucose, lactate, pyruvate and derived compounds. All of these molecules can undergo oxidation in the citric acid cycle. The intent is to study the 13C labeling pattern of these molecules in control and G1D subjects to determine if downstream products (such as 13C bicarbonate or 13C glutamate) due to oxidation in the mitochondria can be detected in brain or in blood by NMR analysis. While inside the instrument, the subjects may also undergo a 7T MR exam to correlate spectroscopy with brain structure.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 20
• Est. completion date: September 20, 2026
• Est. primary completion date: September 20, 2026
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 16 Years to 65 Years

Eligibility

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.

Related Conditions & MeSH terms

• Carbohydrate Metabolism, Inborn Errors
• Epilepsy
• Glucose Metabolism Disorders
• Glucose Transport Defect
• Glucose Transporter Protein Type 1 Deficiency Syndrome
• Glucose Transporter Type 1 Deficiency Syndrome
• Glut1 Deficiency Syndrome 1, Autosomal Recessive
• Metabolic Diseases
• Syndrome

Intervention

Device:
• Magnetic resonance imaging
Medical imaging technique used in radiology to form pictures of the anatomy.

Locations

Country	Name	City	State
United States	UT Southwestern Medical Center	Dallas	Texas

Sponsors (1)

Lead Sponsor	Collaborator
University of Texas Southwestern Medical Center

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Select metabolite abundance measured at 7Tfield strength	Relative spectral amplitude at equilibrium time point (equilibrium will be defined from the spectra) of the lactate, glucose and bicarbonate spectral peaks arising from infused 13C glucose as measured by magnetic resonance spectroscopy (non contrast brain MRS 7T)	Day 1, immediately after 13 C labeled isotope infusion
Primary	Select metabolite abundance measured at 3T field strength	Relative spectral amplitude at equilibrium time point (equilibrium will be defined from the spectra) of the lactate, glucose and bicarbonate spectral peaks arising from infused 13C glucose as measured by magnetic resonance spectroscopy (non contrast brain MRS 3T)	Day 1, immediately after 13 C labeled isotope infusion