Recruiting

Observational Study

Sponsor:

Weill Medical College of Cornell University

Code:

NCT05085704

Conditions

Glut1 Deficiency Syndrome 1

Glucose Metabolism Disorders

Epilepsy

Glut1 Deficiency Syndrome 1, Autosomal Recessive

Glucose Transporter Type 1 Deficiency Syndrome

Eligibility Criteria

Sex: All

Age: 16 - 70+

Healthy Volunteers: Accepted

Interventions

Magnetic resonance imaging

Study Details

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.

Conditions

Glut1 Deficiency Syndrome 1

Glucose Metabolism Disorders

Epilepsy

Glut1 Deficiency Syndrome 1, Autosomal Recessive

Glucose Transporter Type 1 Deficiency Syndrome

Study ID

NCT05085704

Start date

May 3, 2022

Status verified date

May, 2026

Completion date

Aug 1, 2029

Anticipated

Primary completion date

Jun 1, 2029

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 16 - 70+

Healthy Volunteers: Accepted

Inclusion Criteria:

1. 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).
2. Ages 16 to 80
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.
8. People following a ketogenic diet

Study Design

Enrollment

20 participants

Anticipated

Interventions and Outcome Measures

Arms

Adolescents and adults with Glut1 deficiency

Normal healthy adolescents and adults

Interventions

Magnetic resonance imaging

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

Primary outcome measure

  • Select metabolite abundance measured at 7Tfield strength [ Time Frame: Day 1, immediately after 13 C labeled isotope infusion ]
  • Select metabolite abundance measured at 3T field strength [ Time Frame: Day 1, immediately after 13 C labeled isotope infusion ]

Central Contacts and Locations

Central contacts

Locations

Weill Cornell Medicine

Recruiting

New York, New York, United States, 10065

Contacts

More Information

Sponsor

Weill Medical College of Cornell University

Last update posted

Jun 1, 2026

Last verified

May, 2026

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Weill Medical College of Cornell University on 2026-06-01.