Treatment Development for Glucose Transporter Type I Deficiency Syndrome (G1D)

Phase 1

Completed

• Conditions: Glucose Transporter Type 1 Deficiency Syndrome; GLUT1 Deficiency Syndrome
• Interventions: Drug: Triheptanoin

• Registration Number: NCT02018315
• Lead Sponsor: Juan Pascual

Brief Summary

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.

Detailed 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.

Study Timeline

• Study Start: 2012-01
• Primary Completion: 2013-01
• Study First Submitted: 2013-12-11
• Study First Submitted QC: 2013-12-16
• Study First Posted: 2013-12-23
• Study Completion: 2014-03
• Results First Submitted: 2019-02-12
• Status Verified: 2019-10
• Results First Submitted QC: 2019-10-08
• Last Update Submitted: 2019-10-08
• Results First Posted: 2019-10-31
• Last Update Posted: 2019-10-31

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 14

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.

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Triheptanoin	Triheptanoin	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.

Primary Outcome Measures

Name	Time	Method
Number of Participants With Reduction in Spike-wave Fraction of the EEG Recording Time	1 day	Visual analysis of EEG recording to determine the fraction of spike-range within the area of recording.

Secondary Outcome Measures

Name	Time	Method
Number of Participants With Change in Brain Metabolic Rate After 3 Months	3 months	Magnetic Resonance Imaging (MRI) used to calculate brain metabolic rate. Brain metabolic rate compared before oil ingestion (Baseline), 90 minutes after oil ingestion, and after 3 months of daily oil ingestion in each participant. Triheptanoin metabolism may lead to increased oxygen consumption only while the brain undergoes a reduction of ictogenesis. We hypothesize that when ictogenesis is abolished by triheptanoin or absent at baseline, triheptanoin exerts little or no effect on CMR02.

Trial Locations

Locations (1)

UT Southwestern Medical Center; 🇺🇸 Dallas, Texas, United States