Diet Treatment Glucose Transporter Type 1 Deficiency (G1D)

• Register: ClinicalTrials.gov
• Last refreshed on: 5 February 2024
• Main ID: NCT03181399
• Date of registration: 25/04/2017
• Prospective Registration: Yes
• Primary sponsor: University of Texas Southwestern Medical Center
• Public title: Diet Treatment Glucose Transporter Type 1 Deficiency (G1D)
• Scientific title: Dietary Treatment of Glucose Transporter Type 1 Deficiency (G1D)
• Date of first enrolment: April 18, 2018
• Target sample size: 45
• Recruitment status: Active, not recruiting
• URL: https://clinicaltrials.gov/ct2/show/NCT03181399
• Study type: Interventional
• Study design: Allocation: N/A. Intervention model: Single Group Assignment. Primary purpose: Treatment. Masking: None (Open Label).
• Phase: Phase 2

Countries of recruitment

United States

Contacts

• Name: Juan Pascual, MD
• Affiliation: Study Principal Investigator

Key inclusion & exclusion criteria

Inclusion Criteria:

- Diagnosis of glucose transporter type I deficiency (G1D), confirmed by clinical
genotyping at a CLIA-certified laboratory or by PET scan.

- Stable diet on either a modified atkins diet or on no dietary therapy (i.e., no
dietary therapy for 1 month).

- Males and females 24 months to 35 years old, inclusive.

Exclusion Criteria:

- Subjects with evidence of independent, unrelated metabolic and/or genetic disease.

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

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

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

- Subjects with no evidence of abnormal EEG (spike wave discharges) in the last 12
months.

- 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 use of triheptanoin in the past 1 month. Subjects who participate in Protocol
1 of this study are thus eligible.

- 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 subject or legal guardian/representative to give written
informed consent, or assent for children age 10-17.

- Addition of a new antiseizure drug in the previous 3 months.



Age minimum: 24 Months
Age maximum: 35 Years
Gender: All

Health Condition(s) or Problem(s) studied

Glucose Transporter Type 1 Deficiency Syndrome

Glucose Metabolism Disorders

Glucose Transport Defect

Glucose Transporter Protein Type 1 Deficiency Syndrome

Glut1 Deficiency Syndrome 1, Autosomal Recessive

GLUT1DS1

Epilepsy

Intervention(s)

Drug: Triheptanoin

Primary Outcome(s)

Neuropsychological attention scores [Time Frame: Medication taken daily for 6 months.]

Secondary Outcome(s)

Global impression scale [Time Frame: Medication taken daily for 6 months.]

EEG changes: spike-wave activity duration in EEG (electroencephalogram) tracings [Time Frame: Medication taken daily for 6 months.]

Ataxia scores [Time Frame: Medication taken daily for 6 months.]

Secondary ID(s)

122016-013

1R01NS094257-01A1

Source(s) of Monetary Support

Please refer to primary and secondary sponsors

Secondary Sponsor(s)

National Institute of Neurological Disorders and Stroke (NINDS)