Treatment Development of Triheptanoin (G1D)

• Status: Active, not recruiting
• Trial end date: 2025-03-29
• Target enrollment: 0
• Participant gender: All

Summary

To determine the maximum tolerated dose (MTD), as a percentage of calories consumed, of triheptanoin (C7 oil; C7) in a pediatric and adult patient population genetically diagnosed with glucose transporter type 1 deficiency disorder (G1D).

• Phase: Phase 1
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Juan Pascual; University of Texas Southwestern Medical Center
• Collaborator: National Institute of Neurological Disorders and Stroke (NINDS)

Criteria

Inclusion Criteria:

• Diagnosis of glucose transporter type I deficiency (G1D) confirmed by genotyping or PET scan of the brain.

• Stable on no dietary therapy other than Modified Atkins diet (i.e., on no dietary therapy for 1 month, including, but not limited to, medium chain triglyceride therapy).

• Males and females 2 years 6 months to 35 years 11 months 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 evidence of independent, unrelated metabolic and/or genetic disease.

• Subjects with a body mass index (BMI) greater than or equal to 30.

• Subjects with a chronic gastrointestinal disorder, such as irritable bowel syndrome, Crohn's disease, or colitis, which could increase the subject's risk of developing diarrhea or stomach pain.

• Subjects currently on dietary therapy (i.e., ketogenic diet, medium chain triglyceride-supplemented diets, Atkins diet, low glycemic index diet, and related diets).

• 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.

• Females age 10 and over will be asked to provide a urine sample for a pregnancy test via dipstick.

• Subjects will be asked to agree to abstinence or another form of birth control for the duration of the study.

• Allergy/sensitivity to C7.

• Previous treatment with C7 one month prior to enrollment.

• 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.

• Inability or unwillingness of 1 parent or legal guardian/representative to give written informed consent.