Brain Metabolism Observed at 3 Tesla or 7 Tesla in Health... | NCT05085704

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

NCT05085704

Sponsor

Weill Medical College of Cornell University

Status

Recruiting

Last Update Posted

Jun 1, 2026Actual

Enrollment

20Estimated

Phase

Not provided

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

Interventions

Magnetic resonance imaging

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

ID	Type	Description	Link
RM1NS133593	U.S. NIH Grant/Contract		View source

Status Module

Record Verification Date

May 2026

Overall Recruitment Status or Expanded Access Status

Recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

May 3, 2022Actual

Primary Completion Date

Jun 1, 2029Estimated

Completion Date

Aug 1, 2029Estimated

First Submitted Date

Aug 31, 2021

First Submission Date that Met QC Criteria

Oct 7, 2021

First Posted Date

Oct 20, 2021Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

May 27, 2026

Last Update Posted Date

Jun 1, 2026Actual

Name	Class
National Institute of Neurological Disorders and Stroke (NINDS)	NIH

Description Module

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

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

20Estimated

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Adolescents and adults with Glut1 deficiency			Device: Magnetic resonance imaging
Normal healthy adolescents and adults			Device: Magnetic resonance imaging

Interventions

Name	Type	Description	Arm Group Labels	Other Names
Magnetic resonance imaging	Device	Medical imaging technique used in radiology to form pictures of the anatomy.	Adolescents and adults with Glut1 deficiency Normal healthy adolescents and adults

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
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

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

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.

Exclusion Criteria:

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.
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.
People following a ketogenic diet

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

16 Years

Maximum Age

80 Years

Standard Ages

ChildAdultOlder Adult

Study Population

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

Sampling Method

Non-Probability Sample

Name	Role	Phone	Extension	Email
Juan M Pascual, M.D.	Contact	212 746 3278		jup9003@med.cornell.edu
Rocio Moron Ares, B.S.	Contact	212 746 3278		rrm4007@med.cornell.edu

ID	Term
D044882	Glucose Metabolism Disorders
D004827	Epilepsy
C536830	Glut1 Deficiency Syndrome
C562806	Glycogen Storage Disease Id

ID	Term
D008659	Metabolic Diseases
D009750	Nutritional and Metabolic Diseases
D001927	Brain Diseases
D002493	Central Nervous System Diseases
D009422	Nervous System Diseases

ID	Term
D014054	Tomography
D003952	Diagnostic Imaging
D019937	Diagnostic Techniques and Procedures
D003933	Diagnosis