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.
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).
Ages 16 to 80
Persons with dental fillings, dental crowns, and short (max.4 cm) dental retainer wires can be included.
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.
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.
Persons with ICD, pacemakers, neurostimulators and other such devices will be excluded.
Adolescents and adults with Glut1 Deficiency; Normal, healthy adolescents and adults.
Cohort
Prospective
Magnetic resonance imaging
DeviceMedical imaging technique used in radiology to form pictures of the anatomy.
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)
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)
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Weill Medical College of Cornell University
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
Collaborator
