Glucose Transporter 1 Deficiency SyndromeNCT02968953
Treatment With UX007 for a Single Patient With GLUT1 Deficiency Syndrome
A study testing Triheptanoin in people with Glucose Transporter 1 Deficiency Syndrome, run by Jerry Vockley, MD, PhD at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 3 years and older, women only
- Conditions the study is for
- Glucose Transporter 1 Deficiency Syndrome
- What is being tested?
- Triheptanoin
- How many people
- Not given
- Where
- 1 siteUnited States
- Study dates
- Start not givento not given
- Phase
- Expanded access
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 3 years and older
- Women only
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- 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.
Who cannot join
- Not applicable as study only includes one patient.
Trial locations and contacts
1 site in 1 country.
United States1 site
Children's Hospital of Pittsburgh of UPMC
Pittsburgh, Pennsylvania, 15224
About this study
Official title: 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.
Read the 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.
- Being tested
- Triheptanoin
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
TriheptanoinDrug
Also called UX007
A single patient with Glucose Transporter 1 (GLUT1) Deficiency Syndrome will receive tripheptanoin (UX007).
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Nov 2016 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Glucose Transporter 1 Deficiency SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Expanded access
Sponsor and investigators
- Lead sponsor
- Jerry Vockley, MD, PhD
- Sponsor type
- University, hospital or other
- Collaborators
- Ultragenyx Pharmaceutical Inc
- Responsible party
- Sponsor-investigator, Jerry Vockley, MD, PhD, University of Pittsburgh
- Investigators
- Gerard Vockley, MD, PhD, Principal investigator, University of Pittsburgh
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02968953
- Sponsor's protocol ID
- PRO16060524
- Status last verified
- Feb 2019
- First submitted
- 16 Nov 2016
- Last updated
- 8 Feb 2019
- Results posted
- No
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.
PubMed 25110966Blumenschine 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.
PubMed 27511993Mochel 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.
PubMed 26536893
Study at a glance
From the registry record, last updated by the sponsor on 8 Feb 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Treatment With UX007 (Triheptanoin) for a Single Patient (ERS) With Glucose Transporter 1 (GLUT1) Deficiency Syndrome
- ClinicalTrials.gov ID
- NCT02968953
- Acronym / sponsor ID
- PRO16060524
- Study type
- Expanded access
- Recruitment status
- No Longer Available
- Lead sponsor
- Jerry Vockley, MD, PhDUniversity, hospital or other
- Collaborators
- Ultragenyx Pharmaceutical Inc
- First posted
- 21 Nov 2016 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
Who may qualify
- Ages
- 3 years and older
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (1 listed)
- 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.
Key exclusion criteria (1 listed)
- Not applicable as study only includes one patient.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| TriheptanoinAlso: UX007A single patient with Glucose Transporter 1 (GLUT1) Deficiency Syndrome will receive tripheptanoin (UX007). | Drug | – |
Primary outcome
Not reported in the source record.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Feb 2019.
- Background: PubMed 25110966Pascual 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.
- Background: PubMed 27511993Blumenschine 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.
- Background: PubMed 26536893Mochel 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Gerard Vockley, MD, PhD principal investigator
University of Pittsburgh
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Triheptanoin in people with Glucose Transporter 1 Deficiency Syndrome, run by Jerry Vockley, MD, PhD at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 8 Feb 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02968953, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 Feb 2019.