Treatment With UX007 for a Single Patient With GLUT1 Deficiency Syndrome
Primary Purpose
Glucose Transporter 1 Deficiency Syndrome
Status
No longer available
Phase
Locations
United States
Study Type
Expanded Access
Intervention
Triheptanoin
Sponsored by
About this trial
This is an expanded access trial for Glucose Transporter 1 Deficiency Syndrome
Eligibility Criteria
Inclusion Criteria:
- This treatment plan is intended for the use of UX007 (triheptanoin) in the treatment of a single patient with Glucose Transporter 1 (GLUT1) Deficiency Syndrome.
Exclusion Criteria:
- Not applicable as study only includes one patient.
Sites / Locations
- Children's Hospital of Pittsburgh of UPMC
Outcomes
Primary Outcome Measures
Secondary Outcome Measures
Full Information
NCT ID
NCT02968953
First Posted
November 16, 2016
Last Updated
February 7, 2019
Sponsor
Jerry Vockley, MD, PhD
Collaborators
Ultragenyx Pharmaceutical Inc
1. Study Identification
Unique Protocol Identification Number
NCT02968953
Brief Title
Treatment With UX007 for a Single Patient With GLUT1 Deficiency Syndrome
Official Title
Treatment With UX007 (Triheptanoin) for a Single Patient (ERS) With Glucose Transporter 1 (GLUT1) Deficiency Syndrome
Study Type
Expanded Access
2. Study Status
Record Verification Date
February 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
Jerry Vockley, MD, PhD
Collaborators
Ultragenyx Pharmaceutical Inc
4. Oversight
5. Study Description
Brief Summary
This treatment plan is intended for the use of UX007 (triheptanoin) in the treatment of a single patient with Glucose Transporter 1 (GLUT1) Deficiency Syndrome.
Detailed Description
This treatment plan is intended for the use of UX007 (triheptanoin) in the treatment of a single patient with Glucose Transporter 1 (GLUT1) Deficiency Syndrome. Patient has already tried the other acceptable treatments for GLUT1 with either side effects that caused treatment to be discontinued (Ketogenic Diet) or a current treatment that is not showing any efficacy and is difficult to sustain for a long duration given this patient's age (modified Atkins diet). Due to the patient's ongoing neuroregression and lack of other viable treatments, the use of UX007 (triheptanoin) is warranted. There is no comparable or satisfactory alternative therapy to treat this patient's severely debilitating condition and the potential benefits to the patient justify the potential risks of the treatment. The potential risks from UX007 (triheptanoin) are not unreasonable given the context of this patient's condition.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Glucose Transporter 1 Deficiency Syndrome
7. Study Design
8. Arms, Groups, and Interventions
Intervention Type
Drug
Intervention Name(s)
Triheptanoin
Other Intervention Name(s)
UX007
Intervention Description
A single patient with Glucose Transporter 1 (GLUT1) Deficiency Syndrome will receive tripheptanoin (UX007).
10. Eligibility
Sex
Female
Minimum Age & Unit of Time
3 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
Inclusion Criteria:
This treatment plan is intended for the use of UX007 (triheptanoin) in the treatment of a single patient with Glucose Transporter 1 (GLUT1) Deficiency Syndrome.
Exclusion Criteria:
Not applicable as study only includes one patient.
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Gerard Vockley, MD, PhD
Organizational Affiliation
University of Pittsburgh
Official's Role
Principal Investigator
Facility Information:
Facility Name
Children's Hospital of Pittsburgh of UPMC
City
Pittsburgh
State/Province
Pennsylvania
ZIP/Postal Code
15224
Country
United States
12. IPD Sharing Statement
Citations:
PubMed Identifier
25110966
Citation
Pascual JM, Liu P, Mao D, Kelly DI, Hernandez A, Sheng M, Good LB, Ma Q, Marin-Valencia I, Zhang X, Park JY, Hynan LS, Stavinoha P, Roe CR, Lu H. Triheptanoin for glucose transporter type I deficiency (G1D): modulation of human ictogenesis, cerebral metabolic rate, and cognitive indices by a food supplement. JAMA Neurol. 2014 Oct;71(10):1255-65. doi: 10.1001/jamaneurol.2014.1584.
Results Reference
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PubMed Identifier
27511993
Citation
Blumenschine M, Montes J, Rao AK, Engelstad K, De Vivo DC. Analysis of Gait Disturbance in Glut 1 Deficiency Syndrome. J Child Neurol. 2016 Nov;31(13):1483-1488. doi: 10.1177/0883073816661662. Epub 2016 Aug 10.
Results Reference
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PubMed Identifier
26536893
Citation
Mochel F, Hainque E, Gras D, Adanyeguh IM, Caillet S, Heron B, Roubertie A, Kaphan E, Valabregue R, Rinaldi D, Vuillaumier S, Schiffmann R, Ottolenghi C, Hogrel JY, Servais L, Roze E. Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency. J Neurol Neurosurg Psychiatry. 2016 May;87(5):550-3. doi: 10.1136/jnnp-2015-311475. Epub 2015 Nov 3.
Results Reference
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Treatment With UX007 for a Single Patient With GLUT1 Deficiency Syndrome
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