Clinical trial NCT05085704: Brain Metabolism Observed at 7 Tesla
Official title: Brain Metabolism Observed at 7 Tesla in Health and Metabolic Disease.
Study type: OBSERVATIONAL
Overall status: RECRUITING
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
Lead sponsor: University of Texas Southwestern Medical Center
Sponsor class: OTHER
First posted: 2021-10-20
Enrollment: 20
Sex: ALL
Minimum age (years): 16
Maximum age (years): 65
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Adolescents and adults with Glut1 Deficiency; Normal, healthy adolescents and adults.

Brief 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.

Detailed 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.

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.

Primary outcomes:
measure: Select metabolite abundance measured at 7Tfield strength
timeFrame: Day 1, immediately after 13 C labeled isotope infusion
measure: Select metabolite abundance measured at 3T field strength
timeFrame: Day 1, immediately after 13 C labeled isotope infusion
Secondary outcomes:
Other outcomes:
Locations:
city: Dallas
country: United States
facility: UT Southwestern Medical Center
state: Texas
Study officials:
References: