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

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ClinicalTrials.gov Identifier: NCT02018315
Recruitment Status : Completed
First Posted : December 23, 2013
Results First Posted : October 31, 2019
Last Update Posted : October 31, 2019
Information provided by (Responsible Party):
Juan Pascual, University of Texas Southwestern Medical Center

Brief 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.

Condition or disease Intervention/treatment Phase
Glucose Transporter Type 1 Deficiency Syndrome GLUT1 Deficiency Syndrome Drug: Triheptanoin Phase 1

Detailed 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.

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 14 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Basic Science
Official Title: Clinical Trial of Citric Acid Cycle Stimulation in Energy-deficiency States: Treatment Development for Glucose Transporter Type I Deficiency Syndrome (G1D) (NMTUT 2010B)
Study Start Date : January 2012
Actual Primary Completion Date : January 2013
Actual Study Completion Date : March 2014

Arm Intervention/treatment
Experimental: Triheptanoin
Triheptanoin (C7 oil, liquid) dosed at 1 g/kg body weight divided and administered 4 times per day via mouth or g-tube for 3 months.
Drug: Triheptanoin
Triheptanoin is a 7-carbon medium chain triglyceride
Other Names:
  • C7
  • Heptanoate

Primary Outcome Measures :
  1. Number of Participants With Reduction in Spike-wave Fraction of the EEG Recording Time [ Time Frame: 1 day ]
    Visual analysis of EEG recording to determine the fraction of spike-range within the area of recording.

Secondary Outcome Measures :
  1. Number of Participants With Change in Brain Metabolic Rate After 3 Months [ Time Frame: 3 months ]
    Magnetic Resonance Imaging (MRI) used to calculate brain metabolic rate. Brain metabolic rate compared before oil ingestion (Baseline), 90 minutes after oil ingestion, and after 3 months of daily oil ingestion in each participant. Triheptanoin metabolism may lead to increased oxygen consumption only while the brain undergoes a reduction of ictogenesis. We hypothesize that when ictogenesis is abolished by triheptanoin or absent at baseline, triheptanoin exerts little or no effect on CMR02.

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Ages Eligible for Study:   1 Month to 20 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02018315

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United States, Texas
UT Southwestern Medical Center
Dallas, Texas, United States, 75390
Sponsors and Collaborators
Juan Pascual
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Principal Investigator: Juan M. Pascual, MD, PhD UT Southwestern Medical Center
Additional Information:

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Responsible Party: Juan Pascual, Associate Professor, Director of the Rare Brain Disorders Program, University of Texas Southwestern Medical Center
ClinicalTrials.gov Identifier: NCT02018315    
Other Study ID Numbers: UTSW 122010-186
First Posted: December 23, 2013    Key Record Dates
Results First Posted: October 31, 2019
Last Update Posted: October 31, 2019
Last Verified: October 2019
Keywords provided by Juan Pascual, University of Texas Southwestern Medical Center:
Glut1 Disorder
Glucose Transporter Type 1 Disorder
Glucose Transporter Type I Disorder
Additional relevant MeSH terms:
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Pathologic Processes