This trial is active, not recruiting.

Conditions glucose transporter type 1 deficiency syndrome, glut1 deficiency syndrome
Treatment triheptanoin
Phase phase 1
Sponsor Juan Pascual
Start date January 2012
End date January 2013
Trial size 14 participants
Trial identifier NCT02018315, UTSW 122010-186


The purpose of this trial is to determine if an alternative energy source will impact brain metabolism in a disorder characterized by glucose metabolism failure in the brain.

The central hypothesis tested in this investigation is whether circumventing impaired glucose metabolism is feasible, safe and potentially promising by supplying anaplerotic precursors through metabolism of odd-carbon fatty acids that can enter the citric acid cycle (CAC) through alternative metabolic pathways.

United States No locations recruiting
Other countries No locations recruiting

Study Design

Endpoint classification pharmacodynamics study
Intervention model single group assignment
Masking open label
Primary purpose basic science
Triheptanoin (C7 oil, liquid) dosed at 1 g/kg body weight divided and administered 4 times per day via mouth or g-tube for 3 months.
triheptanoin C7
Triheptanoin is a 7-carbon medium chain triglyceride

Primary Outcomes

Change in Brain Metabolic Rate
time frame: Baseline, 90 minutes, 3 months

Secondary Outcomes

Change in Fasting Glucose
time frame: Baseline, 3 months

Eligibility Criteria

Male or female participants from 1 month up to 20 years old.

Inclusion Criteria: - Male or Female - Ages 1 month to <21 years of age - Diagnosed with glucose transporter type I deficiency. - Age matched (within 1 year) controls not diagnosed with G1D. Exclusion Criteria: - All subjects carrying body metal implants incompatible with the exposure to a magnetic field - Subjects unable to tolerate the MRI and MRS procedures due to anxiety - Subjects receiving oxygen supplementation or those confined to a bed or stretcher - Subjects currently receiving a ketogenic diet, due to a high risk of seizure recurrence while transitioning off ketosis. - Patients behaviorally unable to hold still for imaging procedures (rather than limited by seizure activity) will be excluded.

Additional Information

Official title Clinical Trial of Citric Acid Cycle Stimulation in Energy-deficiency States: Treatment Development for Glucose Transporter Type I Deficiency Syndrome (G1D) (NMTUT 2010B)
Principal investigator Juan M. Pascual, MD, PhD
Description Triheptanoin, a nutritional supplement long used in other metabolic disorders and also added to foods and cosmetics, will be used to complement any diet that G1D patients may be receiving at enrollment with the exception of the ketogenic diet.
Trial information was received from ClinicalTrials.gov and was last updated in December 2013.
Information provided to ClinicalTrials.gov by University of Texas Southwestern Medical Center.