Brief Summary
This is a single-site, open-label, phase II trial of C7, a food supplement or medical food, for the development of treatment outcome measures for glucose transporter type I deficiency (G1D). The primary outcome measures are: 1. Safety and tolerability of C7 as measured by changes in comprehensive blood work, including lipid and free fatty acid panels, self-reported side effects and clinical exam; 2. Changes in brain metabolic rate by MRI and EEG measurements during C7 treatment; and 3. Maintenance of ketosis in G1D patients on ketogenic diet, as measured by serial ketone levels during treatment initiation.
Brief Title
Triheptanoin (C7 Oil), a Food Supplement, for Glucose Transporter Type I Deficiency (G1D)
Categories
Completion Date
Completion Date Type
Estimated
Conditions
Glucose Transporter Type 1 Deficiency Syndrome
Glut1 Deficiency Syndrome
Eligibility Criteria
Inclusion Criteria:
* Diagnosis or suspected diagnosis of glucose transporter type I deficiency (G1D).
* On stable ketogenic diet at a ratio between 1:2.5 and 1:4 OR Stable on no dietary therapy
* Males and females 30 months to 55 years old, inclusive.
Exclusion Criteria:
* Subjects with a history of life-threatening seizure episodes, including but not limited to status epilepticus and cardiac arrest.
* Subjects with a BMI (body mass index) greater than or equal to 30 will be excluded.
* Subjects currently on dietary therapy other than ketogenic diet (i.e., medium chain triglyceride-supplemented diets, Atkins diet, low glycemic index diet, etc.).
* Women who are pregnant or breast-feeding may not participate. Women who plan to become pregnant during the course of the study, or who are unwilling to use birth control to prevent pregnancy (including abstinence) may not participate.
* Allergy/sensitivity to triheptanoin.
* Previous treatment with triheptanoin.
* Treatment with medium chain triglycerides in the last 30 days.
* Subjects exhibiting signs of dementia, or diagnosed with any degenerative brain disorder (such as Alzheimer's disease) that would confound assessment of cognitive changes, in the opinion of the investigator.
* Active drug or alcohol use or dependence that, in the opinion of the investigator, would interfere with adherence to study requirements.
* Patients with metal implants, experience claustrophobia, or who are behaviorally unable to be still for MRS (magnetic resonance spectroscopy) imaging (not due to seizures) will be excluded from the imaging portion of the research.
* Inability or unwillingness of subject or legal guardian/representative to give written informed consent, or assent for children age 10-17.
* Diagnosis or suspected diagnosis of glucose transporter type I deficiency (G1D).
* On stable ketogenic diet at a ratio between 1:2.5 and 1:4 OR Stable on no dietary therapy
* Males and females 30 months to 55 years old, inclusive.
Exclusion Criteria:
* Subjects with a history of life-threatening seizure episodes, including but not limited to status epilepticus and cardiac arrest.
* Subjects with a BMI (body mass index) greater than or equal to 30 will be excluded.
* Subjects currently on dietary therapy other than ketogenic diet (i.e., medium chain triglyceride-supplemented diets, Atkins diet, low glycemic index diet, etc.).
* Women who are pregnant or breast-feeding may not participate. Women who plan to become pregnant during the course of the study, or who are unwilling to use birth control to prevent pregnancy (including abstinence) may not participate.
* Allergy/sensitivity to triheptanoin.
* Previous treatment with triheptanoin.
* Treatment with medium chain triglycerides in the last 30 days.
* Subjects exhibiting signs of dementia, or diagnosed with any degenerative brain disorder (such as Alzheimer's disease) that would confound assessment of cognitive changes, in the opinion of the investigator.
* Active drug or alcohol use or dependence that, in the opinion of the investigator, would interfere with adherence to study requirements.
* Patients with metal implants, experience claustrophobia, or who are behaviorally unable to be still for MRS (magnetic resonance spectroscopy) imaging (not due to seizures) will be excluded from the imaging portion of the research.
* Inability or unwillingness of subject or legal guardian/representative to give written informed consent, or assent for children age 10-17.
Inclusion Criteria
Inclusion Criteria:
* Diagnosis or suspected diagnosis of glucose transporter type I deficiency (G1D).
* On stable ketogenic diet at a ratio between 1:2.5 and 1:4 OR Stable on no dietary therapy
* Males and females 30 months to 55 years old, inclusive.
* Diagnosis or suspected diagnosis of glucose transporter type I deficiency (G1D).
* On stable ketogenic diet at a ratio between 1:2.5 and 1:4 OR Stable on no dietary therapy
* Males and females 30 months to 55 years old, inclusive.
Gender
All
Gender Based
false
Keywords
G1D
Glut1 Deficiency
Glucose Transporter Type 1 Deficiency
Glucose Transporter Type I Deficiency
Healthy Volunteers
No
Last Update Post Date
Last Update Post Date Type
Actual
Last Update Submit Date
Maximum Age
55 Years
Minimum Age
30 Months
NCT Id
NCT02021526
Org Class
Other
Org Full Name
University of Texas Southwestern Medical Center
Org Study Id
PASCG1D2014
Overall Status
Withdrawn
Phases
Phase 1
Phase 2
Primary Completion Date
Primary Completion Date Type
Estimated
Official Title
Treatment Development of Triheptanoin for Glucose Transporter Type I Deficiency
Primary Outcomes
Outcome Description
Triglycerides, lipid levels, and cholesterol are measured to evaluate change in risk of metabolic syndrome
Outcome Measure
Change in risk for Metabolic Syndrome
Outcome Time Frame
Baseline, 6 months, 9 months
Outcome Description
EEG and brain metabolic rate will be measured at three time points. Changes in these biomarkers indicate the utilization of triheptanoin in brain metabolism
Outcome Measure
Change on Biomarkers
Outcome Time Frame
Baseline, 6 months, 9 months
Outcome Description
Safety blood work (described in the first outcome measure) is measured along with ketone levels and EEG to confirm that triheptanoin is safe and does not break ketosis in patients on the ketogenic diet
Outcome Measure
Change in Ketosis
Outcome Time Frame
baseline, 6 months, 9 months
Start Date
Status Verified Date
First Post Date
First Post Date Type
Estimated
First Submit Date
First Submit QC Date
Std Ages
Child
Adult
Maximum Age Number (converted to Years and rounded down)
55
Minimum Age Number (converted to Years and rounded down)
2
Investigators
Investigator Type
Principal Investigator
Investigator Name
Shlomo Shinnar
Investigator Email
sshinnar@montefiore.org
Investigator Phone
MeSH Terms
GLUT1 DEFICIENCY SYNDROME
TRIHEPTANOIN