The Glucose Transporter Type I Deficiency (G1D) Registry

NCT02013583 | Completed

• 1 other identifier: UTSW 062012-080
• Study Type: observational
• Target: 471
• Locations: 1 country
• Sites: 1

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.

Conditions

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

Keywords

Glucose Transporter Type I Deficiency; Glucose Transporter Type 1 Deficiency; G1D; Glut1 Deficiency

Outcome Measures

Primary Outcomes (1)

• 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.

  5 years

Study Arms (1)

Glucose Transporter Type I Deficiency

No interventions

Other: No intervention

Interventions

No intervention OTHER

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

Glucose Transporter Type I Deficiency

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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

You may qualify if:

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

You may not qualify if:

• Patients who are not experiencing any symptoms of G1D

Sponsors & Collaborators

• University of Texas Southwestern Medical Center: lead

Study Sites (1)

UT Southwestern Medical Center

Dallas, Texas, 75390, United States

Location

Related Publications (18)

• 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.

  PMID: 23072752 BACKGROUND

• 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.

  PMID: 22683290 BACKGROUND

• 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.

  PMID: 20598931 BACKGROUND

• Wang D, Sands T, Tang M, Monani U, De Vivo D. Glucose Transporter Type 1 Deficiency Syndrome. 2002 Jul 30 [updated 2025 Mar 6]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1430/

  PMID: 20301603 BACKGROUND

• Perez-Duenas B, Prior C, Ma Q, Fernandez-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.

  PMID: 19901175 BACKGROUND

• 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.

  PMID: 19225367 BACKGROUND

• 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. doi: 10.1001/archneur.64.4.noc60165. Epub 2007 Feb 12.

  PMID: 17296829 BACKGROUND

• 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. doi: 10.1530/eje.0.1500627.

  PMID: 15132717 BACKGROUND

• 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.

  PMID: 18387950 BACKGROUND

• Pascual JM. [Glucose transport hereditary diseases]. Med Clin (Barc). 2006 Nov 11;127(18):709-14. doi: 10.1157/13095099. Spanish.

  PMID: 17169300 BACKGROUND

• 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. doi: 10.1093/hmg/ddl032. Epub 2006 Feb 23.

  PMID: 16497725 BACKGROUND

• 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. doi: 10.1002/ana.20331.

  PMID: 15622525 BACKGROUND

• 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. Spanish.

  PMID: 15152356 BACKGROUND

• 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. doi: 10.1074/jbc.M308765200. Epub 2003 Sep 16.

  PMID: 13129919 BACKGROUND

• 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. doi: 10.1002/ana.10311.

  PMID: 12325075 BACKGROUND

• 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. doi: 10.1074/jbc.M202763200. Epub 2002 May 24.

  PMID: 12032147 BACKGROUND

• De Vivo DC, Wang D, Pascual JM, Ho YY. Glucose transporter protein syndromes. Int Rev Neurobiol. 2002;51:259-88. doi: 10.1016/s0074-7742(02)51008-4. No abstract available.

  PMID: 12420362 BACKGROUND

• 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. doi: 10.1002/ana.1222.

  PMID: 11603379 BACKGROUND

MeSH Terms

Conditions

Glut1 Deficiency Syndrome

Study Officials

• Juan M. Pascual, MD, PhD

  University of Texas Southwestern Medical Center

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: OTHER
• Target Duration: 5 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Professor, Director of the Rare Brain Disorders Program

Study Record Dates

• First Submitted: December 11, 2013
• First Posted: December 17, 2013
• Study Start: December 1, 2013
• Primary Completion: August 1, 2024
• Study Completion: August 1, 2024
• Last Updated: March 7, 2025

Record last verified: 2025-02

Locations

US (1)