CompletedPhase 1

Treatment Development for Glucose Transporter Type I Deficiency Syndrome (G1D)

United States14 participantsStarted 2012-01

Plain-language summary

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.

Who can participate

Age range

1 Month – 20 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: * 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. Exclusion Criteria: * 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.

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Number of Participants With Reduction in Spike-wave Fraction of the EEG Recording Time

Timeframe: 1 day

Trial details

NCT IDNCT02018315

SponsorJuan Pascual

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2013-01

Results submitted2019-02-12

View on ClinicalTrials.gov More Glucose Transporter Type 1 Deficiency Syndrome trials