NCT05085704

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.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
20

participants targeted

Target at below P25 for all trials

Timeline
36mo left

Started May 2022

Longer than P75 for all trials

Geographic Reach
1 country

2 active sites

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Progress59%
May 2022Aug 2029

First Submitted

Initial submission to the registry

August 31, 2021

Completed
2 months until next milestone

First Posted

Study publicly available on registry

October 20, 2021

Completed
7 months until next milestone

Study Start

First participant enrolled

May 3, 2022

Completed
7.1 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

June 1, 2029

Expected
2 months until next milestone

Study Completion

Last participant's last visit for all outcomes

August 1, 2029

Last Updated

June 1, 2026

Status Verified

May 1, 2026

Enrollment Period

7.1 years

First QC Date

August 31, 2021

Last Update Submit

May 27, 2026

Conditions

Glut1 Deficiency Syndrome 1Glucose Metabolism DisordersEpilepsyGlut1 Deficiency Syndrome 1, Autosomal RecessiveGlucose Transporter Type 1 Deficiency SyndromeGlucose Transporter Protein Type 1 Deficiency SyndromeGlucose 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

Device: Magnetic resonance imaging

Normal healthy adolescents and adults

Device: Magnetic resonance imaging

Interventions

Magnetic resonance imagingDEVICE

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

Also known as: MRI
Adolescents and adults with Glut1 deficiencyNormal healthy adolescents and adults

Eligibility Criteria

Age16 Years - 80 Years
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

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

You may qualify if:

  • 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.

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.
  • People following a ketogenic diet

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (2)

Weill Cornell Medicine

New York, New York, 10065, United States

RECRUITING

UT Southwestern Medical Center

Dallas, Texas, 75390, United States

TERMINATED

MeSH Terms

Conditions

Glucose Metabolism DisordersEpilepsyGlut1 Deficiency SyndromeGlycogen Storage Disease Id

Interventions

Magnetic Resonance Imaging

Condition Hierarchy (Ancestors)

Metabolic DiseasesNutritional and Metabolic DiseasesBrain DiseasesCentral Nervous System DiseasesNervous System Diseases

Intervention Hierarchy (Ancestors)

TomographyDiagnostic ImagingDiagnostic Techniques and ProceduresDiagnosis

Central Study Contacts

Juan M Pascual, M.D.

CONTACT

212 746 3278jup9003@med.cornell.edu

Rocio Moron Ares, B.S.

CONTACT

212 746 3278rrm4007@med.cornell.edu

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

August 31, 2021

First Posted

October 20, 2021

Study Start

May 3, 2022

Primary Completion (Estimated)

June 1, 2029

Study Completion (Estimated)

August 1, 2029

Last Updated

June 1, 2026

Record last verified: 2026-05

Locations

US(2)