Glut1 Deficiency Syndrome 1NCT05085704
Brain Metabolism Observed at 3 Tesla or 7 Tesla in Health and Metabolic Disease
An observational study of Glut1 Deficiency Syndrome 1 and Glucose Metabolism Disorders, run by Weill Medical College of Cornell University at 2 sites in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 16 to 80 yearsHealthy volunteers can take part
- Conditions the study is for
- Glut1 Deficiency Syndrome 1, Glucose Metabolism Disorders, Epilepsy
- What is being tested?
- Magnetic resonance imaging
- Type of treatment
- Medical device
- How many people
- 20 participants
- Where
- 2 sitesUnited States
- Study dates
- 3 May 2022to 1 Aug 2029
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 16 to 80 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Adolescents and adults with Glut1 Deficiency; Normal, healthy adolescents and adults.
Who may be able to join
- 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.
Who cannot join
- 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
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
United States2 sites, 1 recruiting
- Terminated
UT Southwestern Medical Center
Dallas, Texas, 75390
- Recruiting
Weill Cornell Medicine
New York, New York, 10065
Rocio Moron Ares, B.S., 212 746 3278, rrm4007@med.cornell.edu
Juan M Pascual, M.D, 212 746 3278, jup9003@med.cornell.edu
About this study
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.
Read the 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.
- 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
- Being tested
- Magnetic resonance imaging
- Medical subject headings
- Glucose Metabolism Disorders, Epilepsy, Glut1 Deficiency Syndrome, Glycogen Storage Disease Id
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Magnetic resonance imagingDevice
Also called MRI
Medical imaging technique used in radiology to form pictures of the anatomy.
| Study group | Role | What they receive |
|---|---|---|
| Adolescents and adults with Glut1 deficiency | Not described Receives: Device: Magnetic resonance imaging | |
| Normal healthy adolescents and adults | Not described Receives: Device: Magnetic resonance imaging |
What is being measured
The primary outcome is the main question the study is designed to answer.
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)
Measured: 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)
Measured: Day 1, immediately after 13 C labeled isotope infusion
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Oct 2021
- Study start3 May 2022
- Primary completion1 Jun 2029 (estimated)
- Study completion1 Aug 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Glut1 Deficiency Syndrome 1Studies of the same condition, open and under way.
- More trials run by Weill Medical College of Cornell UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 20 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Weill Medical College of Cornell University
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05085704
- Sponsor's protocol ID
- 24-08027788
- Other IDs
- RM1NS133593
- Status last verified
- May 2026
- First submitted
- 31 Aug 2021
- Last updated
- 1 Jun 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 1 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Brain Metabolism Observed at 3 Tesla or 7 Tesla in Health and Metabolic Disease
- ClinicalTrials.gov ID
- NCT05085704
- Acronym / sponsor ID
- 24-08027788
- 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
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 20 participants (estimated)
- Lead sponsor
- Weill Medical College of Cornell UniversityUniversity, hospital or other
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS)
- Study start
- 3 May 2022 (actual)
- Primary completion
- 1 Jun 2029 (estimated)
- Study completion
- 1 Aug 2029 (estimated)
- First posted
- 20 Oct 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Adolescents and adults with Glut1 deficiency | – | Device: Magnetic resonance imaging |
| Normal healthy adolescents and adults | – | Device: Magnetic resonance imaging |
Who may qualify
- Ages
- 16 to 80 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Adolescents and adults with Glut1 Deficiency; Normal, healthy adolescents and adults.
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (8 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Magnetic resonance imagingAlso: MRIMedical imaging technique used in radiology to form pictures of the anatomy. | Device | Adolescents and adults with Glut1 deficiency, Normal healthy adolescents and adults |
Primary outcome
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)
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)
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Jun 2026.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Glut1 Deficiency Syndrome 1 and Glucose Metabolism Disorders, run by Weill Medical College of Cornell University at 2 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 8 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 1 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Juan M Pascual, M.D. (212 746 3278, jup9003@med.cornell.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Select metabolite abundance measured at 7Tfield strength (time frame: Day 1, immediately after 13 C labeled isotope infusion). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 1 Jun 2026.