Treatment Development for Glucose Transporter Type I Deficiency Syndrome (G1D)
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT02018315|
Recruitment Status : Completed
First Posted : December 23, 2013
Results First Posted : October 31, 2019
Last Update Posted : October 31, 2019
- Study Details
- Tabular View
- Study Results
- How to Read a Study Record
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|
|Study Type :||Interventional (Clinical Trial)|
|Actual Enrollment :||14 participants|
|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|
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.
Triheptanoin is a 7-carbon medium chain triglyceride
- 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.
- 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.
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
|Ages Eligible for Study:||1 Month to 20 Years (Child, Adult)|
|Sexes Eligible for Study:||All|
|Accepts Healthy Volunteers:||Yes|
- 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.
- 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.
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
|United States, Texas|
|UT Southwestern Medical Center|
|Dallas, Texas, United States, 75390|
|Principal Investigator:||Juan M. Pascual, MD, PhD||UT Southwestern Medical Center|
|Responsible Party:||Juan Pascual, Associate Professor, Director of the Rare Brain Disorders Program, University of Texas Southwestern Medical Center|
|Other Study ID Numbers:||
|First Posted:||December 23, 2013 Key Record Dates|
|Results First Posted:||October 31, 2019|
|Last Update Posted:||October 31, 2019|
|Last Verified:||October 2019|
Glucose Transporter Type 1 Disorder
Glucose Transporter Type I Disorder