Treatment With UX007 for a Single Patient With GLUT1 Deficiency Syndrome
February 7, 2019 updated by: Jerry Vockley, MD, PhD
Treatment With UX007 (Triheptanoin) for a Single Patient (ERS) With Glucose Transporter 1 (GLUT1) Deficiency Syndrome
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.
Study Overview
Status
No longer available
Conditions
Intervention / Treatment
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.
Study Type
Expanded Access
Expanded Access Type
- Individual Patients
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Locations
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Pennsylvania
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Pittsburgh, Pennsylvania, United States, 15224
- Children's Hospital of Pittsburgh of UPMC
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Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
Eligibility Criteria
Ages Eligible for Study
3 years and older (ADULT, OLDER_ADULT, CHILD)
Accepts Healthy Volunteers
No
Genders Eligible for Study
Female
Description
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.
Study Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Sponsor
Collaborators
Publications and helpful links
The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.
General Publications
- 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.
- 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.
- 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.
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Registration Dates
First Submitted
November 16, 2016
First Submitted That Met QC Criteria
November 16, 2016
First Posted (Estimate)
November 21, 2016
Study Record Updates
Last Update Posted (Actual)
February 8, 2019
Last Update Submitted That Met QC Criteria
February 7, 2019
Last Verified
February 1, 2019
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- PRO16060524
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on Glucose Transporter 1 Deficiency Syndrome
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University of Texas Southwestern Medical CenterNational Institute of Neurological Disorders and Stroke (NINDS)Active, not recruitingGlucose Metabolism Disorders | Epilepsy | Glucose Transporter Type 1 Deficiency Syndrome | Glut1 Deficiency Syndrome 1, Autosomal Recessive | Glucose Transporter Protein Type 1 Deficiency Syndrome | Glucose Transport Defect | GLUT1DS1United States
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Juan PascualNational Institute of Neurological Disorders and Stroke (NINDS)CompletedGlucose Metabolism Disorders | Epilepsy | Glucose Transporter Type 1 Deficiency Syndrome | Glut1 Deficiency Syndrome 1, Autosomal Recessive | Glucose Transporter Protein Type 1 Deficiency Syndrome | Glucose Transport Defect | GLUT1DS1United States
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University of Texas Southwestern Medical CenterRecruitingGlucose Transporter Type 1 Deficiency Syndrome | GLUT1 Deficiency Syndrome | Glucose Transporter type1 (GLUT-1) Deficiency | GLUT-1 Deficiency SyndromeUnited States
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Juan PascualCompletedGlucose Transporter Type 1 Deficiency Syndrome | GLUT1 Deficiency SyndromeUnited States
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Juan PascualWithdrawnGlucose Transporter Type 1 Deficiency Syndrome | Glut1 Deficiency SyndromeUnited States
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University of Texas Southwestern Medical CenterRecruitingGlucose Metabolism Disorders | Epilepsy | Glucose Transporter Type 1 Deficiency Syndrome | Glut1 Deficiency Syndrome 1 | Glut1 Deficiency Syndrome 1, Autosomal Recessive | Glucose Transporter Protein Type 1 Deficiency Syndrome | Glucose Transport DefectUnited States
-
Juan PascualNo longer availableGlucose Transporter Type 1 Deficiency Syndrome | Glut1 Deficiency SyndromeUnited States
-
University of British ColumbiaUltragenyx Pharmaceutical IncUnknownGlucose Transporter Type 1 Deficiency SyndromeCanada
-
Juan PascualActive, not recruitingGlucose Transporter Type 1 Deficiency Syndrome | GLUT1DS1United States
-
Ultragenyx Pharmaceutical IncCompletedGlucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)United States, Spain, Australia, France, Israel, Italy, United Kingdom
Clinical Trials on Triheptanoin
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The University of QueenslandNational Health and Medical Research Council, AustraliaCompletedAtaxia TelangiectasiaAustralia
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Adrian LacyUltragenyx Pharmaceutical IncCompletedGlucose Transporter Type-1 Deficiency Syndrome (Glut1 DS)United States
-
Richard Bedlack, M.D., Ph.D.Ultragenyx Pharmaceutical IncCompleted
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Ultragenyx Pharmaceutical IncTerminatedGlucose Transporter Type 1 Deficiency SyndromeUnited States, Spain, Denmark, United Kingdom, Australia
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University of Texas Southwestern Medical CenterWithdrawnCongestive Heart Failure | Non-ischemic CardiomyopathyUnited States
-
University of Texas Southwestern Medical CenterNational Institute of Neurological Disorders and Stroke (NINDS)Active, not recruitingGlucose Metabolism Disorders | Epilepsy | Glucose Transporter Type 1 Deficiency Syndrome | Glut1 Deficiency Syndrome 1, Autosomal Recessive | Glucose Transporter Protein Type 1 Deficiency Syndrome | Glucose Transport Defect | GLUT1DS1United States
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Areeg El-GharbawyUltragenyx Pharmaceutical IncCompletedGlycogen Storage Disease Type IUnited States
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University of LiegeUnknown
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Sheba Medical CenterUltragenyx Pharmaceutical IncUnknown
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University of British ColumbiaUltragenyx Pharmaceutical IncUnknownGlucose Transporter Type 1 Deficiency SyndromeCanada