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Phase 1 N=14 Basic Science

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

Glucose Transporter Type 1 Deficiency Syndrome · GLUT1 Deficiency Syndrome

Enrolled (actual)
14
Serious AEs
0.0%
Results posted
Oct 2019
Primary outcome: Primary: Number of Participants With Reduction in Spike-wave Fraction of the EEG Recording Time — 13 Participants

Study Design & Population

Study type
Interventional
Phase
Phase 1
Interventions
Triheptanoin (Drug)
Age
Pediatric, Adult · 0+ yrs
Sex
All
Sponsor
Juan Pascual
Primary completion
Jan 2013

Outcome Measures

OutcomeResultp-value
PRIMARY
Number of Participants With Reduction in Spike-wave Fraction of the EEG Recording Time
13
SECONDARY
Number of Participants With Change in Brain Metabolic Rate After 3 Months
5

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.

Eligibility Criteria

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.
View full record on ClinicalTrials.gov →

Data sourced from ClinicalTrials.gov (NCT02018315). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.

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