Diet Treatment Glucose Transporter Type 1 Deficiency (G1D)
Last updated on July 2021Recruitment
- Recruitment Status
- Active, not recruiting
- Estimated Enrollment
- Same as current
Summary
- Conditions
- Epilepsy
- Glucose Metabolism Disorders
- Glucose Transport Defect
- Glucose Transporter Protein Type 1 Deficiency Syndrome
- Glucose Transporter Type 1 Deficiency Syndrome
- Glut1 Deficiency Syndrome 1, Autosomal Recessive
- GLUT1DS1
- Type
- Interventional
- Phase
- Phase 2
- Design
- Allocation: N/AIntervention Model: Single Group AssignmentIntervention Model Description: All subjects will receive supplementation at the maximum tolerated dose.Masking: None (Open Label)Primary Purpose: Treatment
Participation Requirements
- Age
- Younger than 2435 years
- Gender
- Both males and females
Description
This is an open-label, single arm trial of orally-administered C7 in G1D. Subjects will replace a fixed percentage of their daily caloric intake (based on the results of Protocol 1) with C7 for 6 months, undergo full evaluation and discontinuation of treatment at a 6 month visit, and return for an o...
This is an open-label, single arm trial of orally-administered C7 in G1D. Subjects will replace a fixed percentage of their daily caloric intake (based on the results of Protocol 1) with C7 for 6 months, undergo full evaluation and discontinuation of treatment at a 6 month visit, and return for an off-treatment follow up visit 3 months after C7 oil discontinuation, for total duration of participation of 9 months. Subjects will undergo treatment initiation on a 24-hour inpatient basis. During that 24-hr inpatient treatment initiation, subjects will have continuous EEG both to monitor for real-time seizure activity (for safety) and to determine EEG changes (secondary outcome) before, during, and after treatment initiation. Subjects will undergo clinical evaluation, comprehensive blood work, ataxia scale rating, EEG, and neuropsychological testing at baseline, 6 months, and 9 months.
Tracking Information
- NCT #
- NCT03181399
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS)
- Investigators
- Principal Investigator: Juan Pascual, MD Study Principal Investigator
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