Conditions: Glucose Transporter Type 1 Deficiency Syndrome GLUT1 Deficiency Syndrome
Keywords: G1D Glut1 Disorder Glucose Transporter Type 1 Disorder Glucose Transporter Type I Disorder
Allocation: NA | Intervention model: SINGLE_GROUP
Enrollment: 14
Healthy volunteers: yes

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.

Arms:
arm 1: 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.

Interventions: intervention 1: Triheptanoin
Intervention descriptions: intervention 1: Triheptanoin is a 7-carbon medium chain triglyceride

Protocol document: