An observational study in GLUT1 Deficiency Syndrome, Glucose Transporter Type 1 Deficiency Syndrome and Glucose Transporter Type1 (GLUT-1) Deficiency, sponsored by University of Texas Southwestern Medical Center. Completed at 1 site in United States. Per ClinicalTrials.gov, last updated 2025-03-07.
Sponsored by University of Texas Southwestern Medical Center · Observational
The purpose of this protocol is to create a registry for patients diagnosed with Glucose Transporter Type 1 Deficiency (G1D), or patients experiencing symptoms consistent with G1D but not yet diagnosed, to enter medical information for physicians and other health researchers to analyze to increase the understanding of G1D and any sub-diagnoses.
This is a registry for patients diagnosed with G1D, or experiencing symptoms G1D but not yet diagnosed. The registry will be available online for patients to provide consent, register, enter data, and modify data as necessary. The registry will be programmed by programmers at UT Southwestern Medical Center. The registry will provide the opportunity for patients to enter a comprehensive medical history, from symptoms to lab results to medications and other treatment regimens.
This registry is entirely patient-driven; no medical records will be requested by the investigator, nor are visits with the investigator or any other research personnel required.
The registry database will be periodically "cleaned"; that is, records will be reviewed for duplication of entries and consistency of data. Many data validation checks are incorporated into the registry. Additional data clarification may be requested from users if users have chosen to provide an email address for contact.
9,217 studies on the registry are indexed under Syndrome; 1,034 are open to participants now.
This study's enrollment of 471 is above the median of 102 across 2,211 observational studies indexed under Syndrome.
Browse Syndrome studies →University of Texas Southwestern Medical Center is the lead sponsor of 990 studies on the registry; 201 are open to participants now.
Of its 135 completed or terminated interventional studies of FDA-regulated products, 100 (74%) have results posted.
Counted across the registry records on this site, refreshed daily.
Patients will be recruited from the investigator's patients at the Rare Brain Disorders Clinic and from the national and international community of patients with Glucose Transporter Type I Deficiency
Exclusion Criteria:
No interventions
Other: No intervention
This is an observational registry. No interventions are required or provided.
Symptom Severity
It is hypothesized that symptom severity will correspond to the degree of biochemical dysfunction or mutation type (when available). A broad range of symptoms and severity ratings are collected both retrospectively and prospectively.
Time frame: 5 years
This study is completed, as verified in Feb 2025. You cannot join it, but the record below documents what was studied.
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Carbohydrate Metabolism, Inborn Errors
University of Texas Southwestern Medical Center