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

See Contacts and Locations

Sponsor:

Information provided by (Responsible Party):

Juan Pascual, University of Texas Southwestern Medical Center

Study Description

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.

Study Design

Layout table for study information

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

Resource links provided by the National Library of Medicine

MedlinePlus Genetics related topics: GLUT1 deficiency syndrome

Drug Information available for: Dextrose

Genetic and Rare Diseases Information Center resources: Glucose Transporter Type 1 Deficiency Syndrome

U.S. FDA Resources

Groups and Cohorts

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.

Outcome Measures

Primary Outcome Measures :

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.

Eligibility Criteria

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.

Layout table for eligibility information

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

Contacts and Locations

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

Layout table for location contacts

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

Locations

Layout table for location information

United States, Texas
UT Southwestern Medical Center	Recruiting
Dallas, Texas, United States, 75390

Sponsors and Collaborators

University of Texas Southwestern Medical Center

Investigators

Layout table for investigator information

Principal Investigator:	Juan M. Pascual, MD, PhD	UT Southwestern Medical Center

More Information

Additional Information:

The G1D Registry This link exits the ClinicalTrials.gov site

The Rare Brain Disorders Program at UT Southwestern: Clinical Research Studies This link exits the ClinicalTrials.gov site

Publications:

Marin-Valencia I, Good LB, Ma Q, Malloy CR, Pascual JM. Heptanoate as a neural fuel: energetic and neurotransmitter precursors in normal and glucose transporter I-deficient (G1D) brain. J Cereb Blood Flow Metab. 2013 Feb;33(2):175-82. doi: 10.1038/jcbfm.2012.151. Epub 2012 Oct 17.

Marin-Valencia I, Good LB, Ma Q, Duarte J, Bottiglieri T, Sinton CM, Heilig CW, Pascual JM. Glut1 deficiency (G1D): epilepsy and metabolic dysfunction in a mouse model of the most common human phenotype. Neurobiol Dis. 2012 Oct;48(1):92-101. doi: 10.1016/j.nbd.2012.04.011. Epub 2012 Apr 23.

Marin-Valencia I, Roe CR, Pascual JM. Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis. Mol Genet Metab. 2010 Sep;101(1):9-17. doi: 10.1016/j.ymgme.2010.05.004. Epub 2010 Jun 9. Review.

Wang D, Pascual JM, De Vivo D. Glucose Transporter Type 1 Deficiency Syndrome. 2002 Jul 30 [updated 2018 Mar 1]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1430/

Pérez-Dueñas B, Prior C, Ma Q, Fernández-Alvarez E, Setoain X, Artuch R, Pascual JM. Childhood chorea with cerebral hypotrophy: a treatable GLUT1 energy failure syndrome. Arch Neurol. 2009 Nov;66(11):1410-4. doi: 10.1001/archneurol.2009.236.

Pascual JM, Campistol J, Gil-Nagel A. Epilepsy in inherited metabolic disorders. Neurologist. 2008 Nov;14(6 Suppl 1):S2-S14. doi: 10.1097/01.nrl.0000340787.30542.41. Review.

Pascual JM, Wang D, Hinton V, Engelstad K, Saxena CM, Van Heertum RL, De Vivo DC. Brain glucose supply and the syndrome of infantile neuroglycopenia. Arch Neurol. 2007 Apr;64(4):507-13. Epub 2007 Feb 12.

Pascual JM, Wang D, Lecumberri B, Yang H, Mao X, Yang R, De Vivo DC. GLUT1 deficiency and other glucose transporter diseases. Eur J Endocrinol. 2004 May;150(5):627-33. Review.

Pascual JM, Wang D, Yang R, Shi L, Yang H, De Vivo DC. Structural signatures and membrane helix 4 in GLUT1: inferences from human blood-brain glucose transport mutants. J Biol Chem. 2008 Jun 13;283(24):16732-42. doi: 10.1074/jbc.M801403200. Epub 2008 Apr 3.

Pascual JM. [Glucose transport hereditary diseases]. Med Clin (Barc). 2006 Nov 11;127(18):709-14. Spanish.

Wang D, Pascual JM, Yang H, Engelstad K, Mao X, Cheng J, Yoo J, Noebels JL, De Vivo DC. A mouse model for Glut-1 haploinsufficiency. Hum Mol Genet. 2006 Apr 1;15(7):1169-79. Epub 2006 Feb 23.

Wang D, Pascual JM, Yang H, Engelstad K, Jhung S, Sun RP, De Vivo DC. Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects. Ann Neurol. 2005 Jan;57(1):111-8.

Pascual JM, Lecumberri B, Wang D, Yang R, Engelstad K, De Vivo DC. [Type 1 glucose transporter (Glut1) deficiency: manifestations of a hereditary neurological syndrome]. Rev Neurol. 2004 May 1-15;38(9):860-4. Review. Spanish.

Wang D, Pascual JM, Iserovich P, Yang H, Ma L, Kuang K, Zuniga FA, Sun RP, Swaroop KM, Fischbarg J, De Vivo DC. Functional studies of threonine 310 mutations in Glut1: T310I is pathogenic, causing Glut1 deficiency. J Biol Chem. 2003 Dec 5;278(49):49015-21. Epub 2003 Sep 16.

Pascual JM, Van Heertum RL, Wang D, Engelstad K, De Vivo DC. Imaging the metabolic footprint of Glut1 deficiency on the brain. Ann Neurol. 2002 Oct;52(4):458-64.

Iserovich P, Wang D, Ma L, Yang H, Zuniga FA, Pascual JM, Kuang K, De Vivo DC, Fischbarg J. Changes in glucose transport and water permeability resulting from the T310I pathogenic mutation in Glut1 are consistent with two transport channels per monomer. J Biol Chem. 2002 Aug 23;277(34):30991-7. Epub 2002 May 24.

De Vivo DC, Wang D, Pascual JM, Ho YY. Glucose transporter protein syndromes. Int Rev Neurobiol. 2002;51:259-88. Review.

Brockmann K, Wang D, Korenke CG, von Moers A, Ho YY, Pascual JM, Kuang K, Yang H, Ma L, Kranz-Eble P, Fischbarg J, Hanefeld F, De Vivo DC. Autosomal dominant glut-1 deficiency syndrome and familial epilepsy. Ann Neurol. 2001 Oct;50(4):476-85.

Layout table for additonal information

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:

Layout table for MeSH terms

Carbohydrate Metabolism, Inborn Errors Syndrome Disease Pathologic Processes	Metabolism, Inborn Errors Genetic Diseases, Inborn Metabolic Diseases

To Top