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Completed

NCT Number: NCT02013583

The Glucose Transporter Type I Deficiency (G1D) Registry

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.

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Key information

Conditions

GLUT1 Deficiency Syndrome GLUT-1 Deficiency Syndrome Glucose Transporter Type 1 Deficiency Syndrome Glucose Transporter Type1 (GLUT-1) Deficiency

Sex eligibility

All sexes

Study type

Observational

Primary location

UT Southwestern Medical Center

Dallas, Texas, 75390, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Males and females
  • G1D diagnosis
  • Patients experiencing symptoms of G1D but who have not yet received a diagnosis

Exclusion criteria

  • Patients who are not experiencing any symptoms of G1D

Treatment and study plan

No intervention

Other

This is an observational registry. No interventions are required or provided.

Primary outcomes

  1. Symptom Severity

    Time frame: 5 years

    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.

Sponsors and collaborators

Lead sponsor

University of Texas Southwestern Medical Center

Other

Registry information

Important dates

Study start
2013
Primary completion
2024
Study completion
2024
First posted
Dec 17, 2013
Registry last updated
Mar 7, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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