Recruitment

Recruitment Status
Completed

Inclusion Criterias

Diagnosed with glucose transporter type I deficiency.
Male or Female
Ages 1 month to <21 years of age
...
Diagnosed with glucose transporter type I deficiency.
Male or Female
Ages 1 month to <21 years of age
Age matched (within 1 year) controls not diagnosed with G1D.

Exclusion Criterias

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.
...
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.
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

Summary

Conditions
  • Glucose Transporter Type 1 Deficiency Syndrome
  • GLUT1 Deficiency Syndrome
Type
Interventional
Phase
Phase 1
Design
  • Allocation: N/A
  • Intervention Model: Single Group Assignment
  • Masking: None (Open Label)
  • Primary Purpose: Basic Science

Participation Requirements

Age
Younger than 120 years
Gender
Both males and females

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.

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.

Inclusion Criterias

Diagnosed with glucose transporter type I deficiency.
Male or Female
Ages 1 month to <21 years of age
...
Diagnosed with glucose transporter type I deficiency.
Male or Female
Ages 1 month to <21 years of age
Age matched (within 1 year) controls not diagnosed with G1D.

Exclusion Criterias

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.
...
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.
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

Locations

Dallas, Texas, 75390
Dallas, Texas, 75390

Tracking Information

NCT #
NCT02018315
Collaborators
Not Provided
Investigators
  • Principal Investigator: Juan M. Pascual, MD, PhD UT Southwestern Medical Center
  • Juan M. Pascual, MD, PhD UT Southwestern Medical Center