Recruitment

Recruitment Status
Completed

Inclusion Criteria

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

Exclusion Criteria

Subjects receiving oxygen supplementation or those confined to a bed or stretcher
Subjects unable to tolerate the MRI and MRS procedures due to anxiety
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 unable to tolerate the MRI and MRS procedures due to anxiety
Patients behaviorally unable to hold still for imaging procedures (rather than limited by seizure activity) will be excluded.
Subjects currently receiving a ketogenic diet, due to a high risk of seizure recurrence while transitioning off ketosis.
All subjects carrying body metal implants incompatible with the exposure to a magnetic field

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 Criteria

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

Exclusion Criteria

Subjects receiving oxygen supplementation or those confined to a bed or stretcher
Subjects unable to tolerate the MRI and MRS procedures due to anxiety
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 unable to tolerate the MRI and MRS procedures due to anxiety
Patients behaviorally unable to hold still for imaging procedures (rather than limited by seizure activity) will be excluded.
Subjects currently receiving a ketogenic diet, due to a high risk of seizure recurrence while transitioning off ketosis.
All subjects carrying body metal implants incompatible with the exposure to a magnetic field

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