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The Glucose Transporter Type I Deficiency (G1D) Registry

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT02013583
Recruitment Status : Recruiting
First Posted : December 17, 2013
Last Update Posted : January 18, 2020
Sponsor:
Information provided by (Responsible Party):
Juan Pascual, University of Texas Southwestern Medical Center

Brief Summary:
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.

Condition or disease Intervention/treatment
GLUT1 Deficiency Syndrome Glucose Transporter Type 1 Deficiency Syndrome Glucose Transporter type1 (GLUT-1) Deficiency GLUT-1 Deficiency Syndrome Other: No intervention

Detailed Description:

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.

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 750 participants
Observational Model: Case-Only
Time Perspective: Other
Target Follow-Up Duration: 5 Years
Official Title: The Glucose Transporter Type I Deficiency (G1D) Registry
Study Start Date : December 2013
Estimated Primary Completion Date : December 2022
Estimated Study Completion Date : December 2022


Group/Cohort Intervention/treatment
Glucose Transporter Type I Deficiency
No interventions
Other: No intervention
This is an observational registry. No interventions are required or provided.




Primary Outcome Measures :
  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.



Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
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
Criteria

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02013583


Contacts
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Contact: Adrian Avila, BS rare.diseases@utsouthwestern.edu

Locations
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United States, Texas
UT Southwestern Medical Center Recruiting
Dallas, Texas, United States, 75390
Sponsors and Collaborators
University of Texas Southwestern Medical Center
Investigators
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Principal Investigator: Juan M. Pascual, MD, PhD UT Southwestern Medical Center
Additional Information:
Publications:

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Responsible Party: Juan Pascual, Associate Professor, Director of the Rare Brain Disorders Program, University of Texas Southwestern Medical Center
ClinicalTrials.gov Identifier: NCT02013583    
Other Study ID Numbers: UTSW 062012-080
First Posted: December 17, 2013    Key Record Dates
Last Update Posted: January 18, 2020
Last Verified: January 2020
Keywords provided by Juan Pascual, University of Texas Southwestern Medical Center:
Glucose Transporter Type I Deficiency
Glucose Transporter Type 1 Deficiency
G1D
Glut1 Deficiency
Additional relevant MeSH terms:
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Carbohydrate Metabolism, Inborn Errors
Syndrome
Disease
Pathologic Processes
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases