search
Back to results

Post Study Continuation of C7 for G1D

Primary Purpose

Glut1 Deficiency Syndrome, Glucose Transporter Type 1 Deficiency Syndrome

Status
No longer available
Phase
Locations
United States
Study Type
Expanded Access
Intervention
Triheptanoin
Sponsored by
Juan Pascual
About
Eligibility
Locations
Outcomes
Full info

About this trial

This is an expanded access trial for Glut1 Deficiency Syndrome focused on measuring G1D, Glut1 Deficiency, Glucose Transporter Type 1 Deficiency, Glucose Transporter Type I Deficiency

Eligibility Criteria

1 Month - 28 Years (Child, Adult)All SexesDoes not accept healthy volunteers

Inclusion Criteria:

  • Patients enrolled in the pilot trial (UTSW 122010-186)

Exclusion Criteria:

  • Subjects who did not complete the pilot trial (UTSW 122010-186)

Sites / Locations

  • UT Southwestern Medical Center

Outcomes

Primary Outcome Measures

Secondary Outcome Measures

Full Information

First Posted
December 11, 2013
Last Updated
April 16, 2019
Sponsor
Juan Pascual
search

1. Study Identification

Unique Protocol Identification Number
NCT02018302
Brief Title
Post Study Continuation of C7 for G1D
Official Title
Post Study Continuation of C7 for G1D
Study Type
Expanded Access

2. Study Status

Record Verification Date
April 2019
Overall Recruitment Status
No longer available
Study Start Date
undefined (undefined)
Primary Completion Date
undefined (undefined)
Study Completion Date
undefined (undefined)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor-Investigator
Name of the Sponsor
Juan Pascual

4. Oversight

5. Study Description

Brief Summary
This protocol provides ongoing access to triheptanoin for patients who did complete an initial pilot protocol, and provides the opportunity to collect long-term safety data from patients treated with triheptanoin.
Detailed Description
Only patients who completed the initial pilot study were eligible. The study is ongoing with these patients only.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Glut1 Deficiency Syndrome, Glucose Transporter Type 1 Deficiency Syndrome
Keywords
G1D, Glut1 Deficiency, Glucose Transporter Type 1 Deficiency, Glucose Transporter Type I Deficiency

7. Study Design

8. Arms, Groups, and Interventions

Intervention Type
Drug
Intervention Name(s)
Triheptanoin
Other Intervention Name(s)
C7 oil, Heptanoate, heptanoic acid

10. Eligibility

Sex
All
Minimum Age & Unit of Time
1 Month
Maximum Age & Unit of Time
28 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
Inclusion Criteria: Patients enrolled in the pilot trial (UTSW 122010-186) Exclusion Criteria: Subjects who did not complete the pilot trial (UTSW 122010-186)
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Juan M Pascual, MD, PhD
Organizational Affiliation
UT Southwestern Medical Center
Official's Role
Principal Investigator
Facility Information:
Facility Name
UT Southwestern Medical Center
City
Dallas
State/Province
Texas
ZIP/Postal Code
75390
Country
United States

12. IPD Sharing Statement

Citations:
PubMed Identifier
23072752
Citation
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.
Results Reference
background
PubMed Identifier
22683290
Citation
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.
Results Reference
background
PubMed Identifier
20598931
Citation
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.
Results Reference
background
PubMed Identifier
20301603
Citation
Wang D, Pascual JM, De Vivo D. Glucose Transporter Type 1 Deficiency Syndrome. 2002 Jul 30 [updated 2018 Mar 1]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from http://www.ncbi.nlm.nih.gov/books/NBK1430/
Results Reference
background
PubMed Identifier
19901175
Citation
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.
Results Reference
background
PubMed Identifier
23652627
Citation
Jeffrey FM, Marin-Valencia I, Good LB, Shestov AA, Henry PG, Pascual JM, Malloy CR. Modeling of brain metabolism and pyruvate compartmentation using (13)C NMR in vivo: caution required. J Cereb Blood Flow Metab. 2013 Aug;33(8):1160-7. doi: 10.1038/jcbfm.2013.67. Epub 2013 May 8.
Results Reference
background
PubMed Identifier
22739621
Citation
Xu F, Liu P, Pascual JM, Xiao G, Lu H. Effect of hypoxia and hyperoxia on cerebral blood flow, blood oxygenation, and oxidative metabolism. J Cereb Blood Flow Metab. 2012 Oct;32(10):1909-18. doi: 10.1038/jcbfm.2012.93. Epub 2012 Jun 27.
Results Reference
background
PubMed Identifier
19225367
Citation
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.
Results Reference
background
PubMed Identifier
18614966
Citation
Wang D, Yang H, Shi L, Ma L, Fujii T, Engelstad K, Pascual JM, De Vivo DC. Functional studies of the T295M mutation causing Glut1 deficiency: glucose efflux preferentially affected by T295M. Pediatr Res. 2008 Nov;64(5):538-43. doi: 10.1203/PDR.0b013e318184d2b5.
Results Reference
background
PubMed Identifier
18775281
Citation
Gomez Lado C, Couce Pico ML, Sanchez-Salmon A, Pascual JM. [Glucose transporter type 1 deficiency: a treatable neuro-metabolic disorder]. An Pediatr (Barc). 2008 Sep;69(3):285-6. doi: 10.1157/13125831. No abstract available. Spanish.
Results Reference
background
PubMed Identifier
18387950
Citation
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.
Results Reference
background
PubMed Identifier
17296829
Citation
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.
Results Reference
background
PubMed Identifier
17169300
Citation
Pascual JM. [Glucose transport hereditary diseases]. Med Clin (Barc). 2006 Nov 11;127(18):709-14. doi: 10.1157/13095099. Spanish.
Results Reference
background
PubMed Identifier
16497725
Citation
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.
Results Reference
background
PubMed Identifier
15622525
Citation
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.
Results Reference
background
PubMed Identifier
15152356
Citation
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.
Results Reference
background
PubMed Identifier
15132717
Citation
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.
Results Reference
background
PubMed Identifier
13129919
Citation
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.
Results Reference
background
PubMed Identifier
12325075
Citation
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.
Results Reference
background
PubMed Identifier
12032147
Citation
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.
Results Reference
background
PubMed Identifier
12420362
Citation
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.
Results Reference
background
PubMed Identifier
11603379
Citation
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.
Results Reference
background
Links:
URL
http://www.g1dregistry.org
Description
The G1D Registry

Learn more about this trial

Post Study Continuation of C7 for G1D

We'll reach out to this number within 24 hrs