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

Completed · Phase 1

Conditions studied: Glucose Transporter Type 1 Deficiency Syndrome, GLUT1 Deficiency Syndrome

In brief

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.

Key facts

Study ID

NCT02018315

Run by

Juan Pascual

People needed

14

Starts

2012-01-01

Expected to finish

2014-03-01

Last updated by the study team

2019-10-31

Who can join

Age: 0 and older, up to 20. Sex: any. Healthy volunteers: accepted.

You may qualify if…

• 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.

You may not qualify if…

• 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.

Where it is running

• UT Southwestern Medical Center — Dallas, Texas, United States

Full record on ClinicalTrials.gov

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