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

Juan Pascual

Status and phase

Completed

Phase 1

Conditions

Glucose Transporter Type 1 Deficiency Syndrome

GLUT1 Deficiency Syndrome

Treatments

Drug: Triheptanoin

Study type

Interventional

Funder types

Other

Identifiers

NCT02018315

UTSW 122010-186

Details and patient eligibility

About

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.

Full 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.

Enrollment

14 patients

Sex

All

Ages

1 month to 20 years old

Volunteers

Accepts Healthy Volunteers

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.