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

Phase 1CompletedNCT02018315

Juan Pascual14 enrolled

Overview

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.

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 Type

INTERVENTIONAL

Allocation

Purpose

BASIC_SCIENCE

Masking

NONE

Enrollment

Conditions

Glucose Transporter Type 1 Deficiency Syndrome GLUT1 Deficiency Syndrome

Interventions

TriheptanoinDRUG

Triheptanoin is a 7-carbon medium chain triglyceride

Eligibility

Sex: ALLMin age: 1 MonthMax age: 20 YearsHealthy volunteers:

Medical Language ↔ Plain English

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.

Locations (1)

UT Southwestern Medical Center

Dallas, Texas, United States

Outcomes

Primary Outcomes

Number of Participants With Reduction in Spike-wave Fraction of the EEG Recording Time

Visual analysis of EEG recording to determine the fraction of spike-range within the area of recording.

Time frame: 1 day

Secondary Outcomes

Number of Participants With Change in Brain Metabolic Rate After 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.

Time frame: 3 months

Data from ClinicalTrials.gov

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