Brain Metabolism Observed at 7 Tesla

NCT05085704 | Recruiting FDA Device

• 1 other identifier: STU-2021-0560
• Study Type: observational
• Target: 20
• Locations: 1 country
• Sites: 1

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.

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

Outcome Measures

Primary Outcomes (2)

• 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

• 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

Study Arms (2)

Adolescents and adults with Glut1 deficiency

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.

Device: Magnetic resonance imaging

Normal healthy adolescents and adults

1. Adolescents or adults in good general health. 2. Ages 16 to 65. 3. Persons with dental fillings, dental crowns, and short (max. 4 cm) dental retainer wires can be included.

Device: Magnetic resonance imaging

Interventions

Magnetic resonance imaging DEVICE

Medical imaging technique used in radiology to form pictures of the anatomy.

Also known as: MRI

Adolescents and adults with Glut1 deficiency; Normal healthy adolescents and adults

Eligibility Criteria

• Age: 16 Years - 65 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Adolescents and adults with Glut1 Deficiency; Normal, healthy adolescents and adults.

You may qualify if:

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

You may not qualify if:

• People or patients with uncontrolled seizure disorder, defined as grand mal (not absence) seizure in the preceding 3 months.
• 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.
• Persons with ICD, pacemakers, neurostimulators and other such devices will be excluded.
• Persons with claustrophobia are excluded.
• Persons with questionable ferrous implants, bullets, BB's, and shrapnel will be excluded.
• 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.

Sponsors & Collaborators

• University of Texas Southwestern Medical Center: lead

Study Sites (1)

UT Southwestern Medical Center

Dallas, Texas, 75390, United States

RECRUITING

Biospecimen

Blood

MeSH Terms

Conditions

Glucose Metabolism Disorders; Epilepsy; Glut1 Deficiency Syndrome; Glycogen Storage Disease Id

Interventions

Magnetic Resonance Imaging

Condition Hierarchy (Ancestors)

Metabolic Diseases; Nutritional and Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases

Intervention Hierarchy (Ancestors)

Tomography; Diagnostic Imaging; Diagnostic Techniques and Procedures; Diagnosis

Central Study Contacts

Juan M Pascual, M.D.

CONTACT

214-648-4591; rare.diseases@utsouthwestern.edu

Adrian Avila, B.S.

CONTACT

214-648-4591; rare.diseases@utsouthwestern.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor of Medicine

Study Record Dates

• First Submitted: August 31, 2021
• First Posted: October 20, 2021
• Study Start: May 3, 2022
• Primary Completion (Estimated): September 20, 2026
• Study Completion (Estimated): September 20, 2026
• Last Updated: October 25, 2023

Record last verified: 2023-10

Locations

US (1)