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Brain Metabolism Observed at 7 Tesla

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT05085704
Recruitment Status : Recruiting
First Posted : October 20, 2021
Last Update Posted : August 29, 2022
Sponsor:
Information provided by (Responsible Party):
Juan Pascual, University of Texas Southwestern Medical Center

Study Description
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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.

Condition or disease Intervention/treatment
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 Device: Magnetic resonance imaging

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.
Study Design
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Study Type : Observational
Estimated Enrollment : 20 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Brain Metabolism Observed at 7 Tesla in Health and Metabolic Disease.
Actual Study Start Date : May 3, 2022
Estimated Primary Completion Date : September 20, 2023
Estimated Study Completion Date : September 20, 2026

Resource links provided by the National Library of Medicine

MedlinePlus related topics: MRI Scans

Groups and Cohorts
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Group/Cohort Intervention/treatment
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
Medical imaging technique used in radiology to form pictures of the anatomy.
Other Name: MRI
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
Medical imaging technique used in radiology to form pictures of the anatomy.
Other Name: MRI


Outcome Measures
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Primary Outcome Measures :
  1. Select metabolite abundance measured at 7Tfield strength [ Time Frame: Day 1, immediately after 13 C labeled isotope infusion ]
    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)

  2. Select metabolite abundance measured at 3T field strength [ Time Frame: Day 1, immediately after 13 C labeled isotope infusion ]
    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)


Biospecimen Description:
Blood

Eligibility Criteria
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Information from the National Library of Medicine

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Ages Eligible for Study:   16 Years to 65 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Adolescents and adults with Glut1 Deficiency; Normal, healthy adolescents and adults.
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.
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05085704


Contacts
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Contact: Juan M Pascual, M.D. 214-648-4591 rare.diseases@utsouthwestern.edu
Contact: Adrian Avila, B.S. 214-648-4591 rare.diseases@utsouthwestern.edu

Locations
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United States, Texas
UT Southwestern Medical Center Recruiting
Dallas, Texas, United States, 75390
Contact: Adrian Avila         
Sponsors and Collaborators
University of Texas Southwestern Medical Center
More Information
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Responsible Party: Juan Pascual, Professor of Medicine, University of Texas Southwestern Medical Center
ClinicalTrials.gov Identifier: NCT05085704    
Other Study ID Numbers: STU-2021-0560
First Posted: October 20, 2021    Key Record Dates
Last Update Posted: August 29, 2022
Last Verified: August 2022

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: Yes
Additional relevant MeSH terms:
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Carbohydrate Metabolism, Inborn Errors
Metabolic Diseases
Glucose Metabolism Disorders
Syndrome
 Disease
Pathologic Processes
Metabolism, Inborn Errors
Genetic Diseases, Inborn