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

Weill Cornell Medicine (WCM)

Status: Enrolling

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

Treatments: Device: Magnetic resonance imaging

Study type: Observational

Funder types: Other; NIH

Identifiers

NCT05085704

24-08027788

RM1NS133593 (U.S. NIH Grant/Contract)

Details and patient eligibility

About

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 or 3 Tesla.

Full 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 or 3T MR exam to correlate spectroscopy with brain structure.

Enrollment: 20 estimated patients

Sex: All

Ages: 16 to 80 years old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

1. Subjects will be adolescents or adults, age 16-80 years in good general health (evidenced by normal vital signs and no acute signs or symptoms of illness) or with previously (not for this study) documented G1D (genetically confirmed).
2. Ages 16 to 80
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.
8. People following a ketogenic diet

Trial design

20 participants in 2 patient groups

Adolescents and adults with Glut1 deficiency

Treatment:

Device: Magnetic resonance imaging

Normal healthy adolescents and adults

Treatment:

Device: Magnetic resonance imaging