GLUT1DS1Phase 2NCT03181399
Diet Treatment Glucose Transporter Type 1 Deficiency (G1D)
A Phase 2 study testing Triheptanoin in people with GLUT1DS1 and Epilepsy, run by University of Texas Southwestern Medical Center at 1 site in United States.
Trial summary
Forty-five subjects receiving no dietary therapy with a proven G1D diagnosis will be enrolled. To evaluate the effect of C7 supplementation of a regular diet on a EEG activity in addition to IQ, language, working memory, processing speed, emotional and behavioral functioning, ataxia, and other neuropsychological and… Read more about this study
- Who is it for?
- Ages 24 months to 35 years
- Conditions the study is for
- GLUT1DS1, Epilepsy, Glut1 Deficiency Syndrome 1, Autosomal Recessive
- What is being tested?
- Triheptanoin
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 45 participants
- Where
- 1 siteUnited States
- Study dates
- 18 Apr 2018to 10 Sep 2023
- Phase
- Phase 2
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
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 24 months to 35 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- Diagnosis of glucose transporter type I deficiency (G1D), confirmed by clinical genotyping at a CLIA-certified laboratory or by PET scan.
- Stable diet on either a modified atkins diet or on no dietary therapy (i.e., no dietary therapy for 1 month).
- Males and females 24 months to 35 years old, inclusive.
Who cannot join
- Subjects with evidence of independent, unrelated metabolic and/or genetic disease.
- Subjects with a chronic gastrointestinal disorder, such as irritable bowel syndrome, Crohn's disease, or colitis that could increase the subject's risk of developing diarrhea or stomach pain.
- Subjects with a BMI (body mass index) greater than or equal to 30.
- Subjects currently on dietary therapy (i.e., ketogenic diet, medium chain triglyceride supplemented diets, Atkins diet, low glycemic index diet).
- Subjects with no evidence of abnormal EEG (spike wave discharges) in the last 12 months.
- Women who are pregnant or breast-feeding may not participate. Women who plan to become pregnant during the course of the study, or who are unwilling to use birth control to prevent pregnancy (including abstinence) may not participate. Females age 10 and over will be asked to provide a urine sample for a pregnancy test via dipstick. Subjects will be asked to agree to abstinence or another form of birth control for the duration of the study.
Show all 12Show fewer
- Allergy/sensitivity to C7.
- Previous use of triheptanoin in the past 1 month. Subjects who participate in Protocol 1 of this study are thus eligible.
- Subjects exhibiting signs of dementia, or diagnosed with any degenerative brain disorder (such as Alzheimer's disease) that would confound assessment of cognitive changes, in the opinion of the investigator.
- Active drug or alcohol use or dependence that, in the opinion of the investigator, would interfere with adherence to study requirements.
- Inability or unwillingness of subject or legal guardian/representative to give written informed consent, or assent for children age 10-17.
- Addition of a new antiseizure drug in the previous 3 months.
Trial locations and contacts
1 site in 1 country.
United States1 site
University of Texas Southwestern Medical Center
Dallas, Texas, 75390
About this study
Official title: Dietary Treatment of Glucose Transporter Type 1 Deficiency (G1D)
Forty-five subjects receiving no dietary therapy with a proven G1D diagnosis will be enrolled. To evaluate the effect of C7 supplementation of a regular diet on a EEG activity in addition to IQ, language, working memory, processing speed, emotional and behavioral functioning, ataxia, and other neuropsychological and neurological performance indices in children and adults genetically diagnosed with G1D receiving a regular diet at enrollment.
Read the detailed description
This is an open-label, single arm trial of orally-administered C7 in G1D. Subjects will replace a fixed percentage of their daily caloric intake (based on the results of Protocol 1) with C7 for 6 months, undergo full evaluation and discontinuation of treatment at a 6 month visit, and return for an off-treatment follow up visit 3 months after C7 oil discontinuation, for total duration of participation of 9 months. Subjects will undergo treatment initiation on a 24-hour inpatient basis. During that 24-hr inpatient treatment initiation, subjects will have continuous EEG both to monitor for real-time seizure activity (for safety) and to determine EEG changes (secondary outcome) before, during, and after treatment initiation. Subjects will undergo clinical evaluation, comprehensive blood work, ataxia scale rating, EEG, and neuropsychological testing at baseline, 6 months, and 9 months.
- Conditions
- GLUT1DS1, Epilepsy, Glut1 Deficiency Syndrome 1, Autosomal Recessive, Glucose Metabolism Disorders, Glucose Transport Defect, Glucose Transporter Type 1 Deficiency Syndrome
- Being tested
- Triheptanoin
- Medical subject headings
- Epilepsy, Glucose Metabolism Disorders, Glycogen Storage Disease Id, Glut1 Deficiency Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
TriheptanoinDrug
Also called C7
. Triheptanoin will be taken 4 times per day (approximately every 6 hours: prior to breakfast, lunch and dinner and a mid-afternoon snack) by mouth. It is dosed 4 times per day, divided evenly.
| Study group | Role | What they receive |
|---|---|---|
| Triheptanoin | Experimental | This is a single arm study. Receives: Drug: Triheptanoin |
What is being measured
The primary outcome is the main question the study is designed to answer.
Neuropsychological Score of Sustained Attention
Sustained attention was evaluated using a subtest of Conners' Kiddie Continuous Performance Test Second Edition (K-CPT 2): CPT-Hit Reaction Time Block Change. CPT HRT BC indicates the change in mean response speed as the administration of the test progresses in blocks. A decrease in CPT HRT BC indicates a decrease in reaction time, which means the participant's information processing efficiency increases, and an improvement in sustained attention is noted. The number of participants that showed a decrease in the CPT HRT BC score after 6 months of treatment as compared to baseline is noted here.
Measured: Change post 6 months of treatment
Neuropsychological Score of Sustained Attention
Sustained attention was evaluated using a subtest of Conners' Kiddie Continuous Performance Test Second Edition (K-CPT 2): CPT-Hit Reaction Time Block Change. CPT HRT BC indicates the change in mean response speed as the administration of the test progresses in blocks. A decrease in CPT HRT BC indicates a decrease in reaction time, which means the participant's information processing efficiency increases, and an improvement in sustained attention is noted. The off-treatment period of 3 months was implemented to study whether the impact of treatment persists or goes back to baseline. The number of patients that displayed an increase in CPT HRT BC score (towards baseline) after 3 months off treatment as compared to 6 months on treatment is noted here.
Measured: Change after 3 months off treatment
Neuropsychological Score of Working Memory Index Scale (WMI)
Subjects were administered the Working Memory Index Scale (WMI) from either the Wechsler Primary and Preschool Scale of Intelligence, 4th Edition (WPPSI-IV), Wechsler Intelligence Scale for Children, 5th Edition (WISC-V), or the Wechsler Adult Intelligence Scale, 4th Edition (WAIS-IV) according to the age of subject. An increase WMI score would indicate an improvement in the cognitive ability of identifying, reorganizing and retaining information for a brief period of time. The number of participants that showed an increase in the WMI score after 6 months of treatment is noted here.
Measured: Change post 6 months of treatment
Neuropsychological Score of Working Memory Index Scale (WMI)
Subjects were administered the Working Memory Index Scale (WMI) from either the Wechsler Primary and Preschool Scale of Intelligence, 4th Edition (WPPSI-IV), Wechsler Intelligence Scale for Children, 5th Edition (WISC-V), or the Wechsler Adult Intelligence Scale, 4th Edition (WAIS-IV) according to the age of subject. An increase WMI score would indicate an improvement in the cognitive ability of identifying, reorganizing and retaining information for a brief period of time. The 3 months off-treatment period was designed to study whether the impact of treatment persists or goes back to baseline. The number of participants that showed a decrease in the WMI score after 3 months off treatment as compared to 6 months on treatment was calculated.
Measured: Change after 3 months off-treatment
Neuropsychological Score of Processing Speed Index (PSI)
Subjects were administered the Processing Speed Index Scale (PSI) from either the Wechsler Primary and Preschool Scale of Intelligence, 4th Edition (WPPSI-IV), Wechsler Intelligence Scale for Children, 5th Edition (WISC-V) or the Wechsler Adult Intelligence Scale, 4th Edition (WAIS-IV) according to the age of subject. An increase PSI score would indicate an improvement in the motor-based estimate of the subject's cognitive processing speed. The number of participants that showed an increase in the PSI score after 6 months of treatment as compared to baseline is noted here.
Measured: Change post 6 months of treatment
Neuropsychological Score of Processing Speed Index (PSI)
Subjects were administered the Processing Speed Index Scale (PSI) from either the Wechsler Primary and Preschool Scale of Intelligence, 4th Edition (WPPSI-IV), Wechsler Intelligence Scale for Children, 5th Edition (WISC-V) or the Wechsler Adult Intelligence Scale, 4th Edition (WAIS-IV) according to the age of subject. An increase PSI score would indicate an improvement in the motor-based estimate of the subject's cognitive processing speed. The 3 months off-treatment period was designed to study whether the impact of treatment persists or goes back to baseline. The number of participants that showed a decrease in the WMI score after 3 months off treatment as compared to 6 months on treatment was calculated.
Measured: Change after 3 months off-treatment
Secondary outcomes (6)
EEG Changes: Generalized Spike Wave Activity and Burst
The number of generalized spike wave (GSW) activity and bursts were extracted from the patient EEGs. GSW and bursts per hour was calculated. A decrease in the spike wave and burst indicated an improvement. The number of patients that displayed a decrease in GSW and burst per hour after 6 months of treatment in noted here.
Measured: Change post 6 months of treatment
EEG Changes: Generalized Spike Wave Activity and Burst
The number of generalized spike wave (GSW) activity and bursts were extracted from the patient EEGs. GSW and bursts per hour was calculated. A decrease in the spike wave and burst indicated an improvement. The off-treatment period of 3 months was implemented to study whether the impact of treatment persists or goes back to baseline. The number of patients that displayed an increase in GSW and burst per hour (towards baseline) after 3 months off treatment as compared to 6 months on treatment is noted here.
Measured: Change after 3 months off-treatment
Brief Ataxia Rating Scale
Ataxia is scored as per the Brief ataxia rating scale (BARS) - a modified form of the International Cooperative Ataxia Rating Scale (ICARS). The possible range for the scores is from 0 (normal, no ataxia) to 30 (severe ataxia). A decrease in the BARS score indicates an improvement in the ataxia symptoms. The number of participants that showed a decrease in BARS score after 6 months of intervention is reported here.
Measured: Change post 6 months of treatment
Brief Ataxia Rating Scale
Ataxia is scored as per the Brief ataxia rating scale (BARS) - a modified form of the International Cooperative Ataxia Rating Scale (ICARS). The possible range for the scores is from 0 (normal, no ataxia) to 30 (severe ataxia). A decrease in the BARS score indicates an improvement in the ataxia symptoms. The off-treatment period of 3 months was implemented to study whether the impact of treatment persists or goes back to baseline. The number of participants that showed a subsequent increase in BARS score (towards baseline) after the of 3 months of no treatment as compared to 6 months on treatment are recorded here.
Measured: Change after 3 months off treatment
Clinical Global Impression Severity Scale
The Clinical global impression - Severity (CGI-S) scale is used to evaluate the illness severity where the scores range from 1 (very much improved) through to 7 (very much worse). A decrease in the CGI-S score indicates a decrease in illness severity. The number of participants that showed a decrease in CGI-S score after 6 months of intervention as compared to baseline is reported here.
Measured: Change post 6 months of treatment
Clinical Global Impression Severity Scale
The Clinical global impression - Severity (CGI-S) scale is used to evaluate the illness severity where the scores range from 1 (very much improved) through to 7 (very much worse). A decrease in the CGI-S score indicates a decrease in illness severity. The off-treatment period of 3 months was designed to study whether the impact of treatment persists or goes back to baseline. The number of participants that showed an increase in CGI-S score (towards baseline) after 3 months off treatment as compared to 6 months on treatment is reported
Measured: Change after 3 months off-treatment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Jun 2017
- Study start18 Apr 2018
- Primary completion10 Sep 2023
- Study completion10 Sep 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for GLUT1DS1Studies of the same condition, open and under way.
- More trials run by University of Texas Southwestern Medical CenterThe sponsor's other registered studies.
- 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
- Interventional
- Phase
- Phase 2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- All subjects will receive supplementation at the maximum tolerated dose.
- Masking
- None (open label)
- Enrolment
- 45 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Texas Southwestern Medical Center
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Juan Pascual, University of Texas Southwestern Medical Center
- Investigators
- Juan Pascual, MD, Principal investigator, Study Principal Investigator
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03181399
- Sponsor's protocol ID
- 122016-013
- Other IDs
- 1R01NS094257-01A1
- Status last verified
- Jul 2025
- First submitted
- 25 Apr 2017
- Last updated
- 7 Aug 2025
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Pascual JM, Ronen GM. Glucose Transporter Type I Deficiency (G1D) at 25 (1990-2015): Presumptions, Facts, and the Lives of Persons With This Rare Disease. Pediatr Neurol. 2015 Nov;53(5):379-93. doi: 10.1016/j.pediatrneurol.2015.08.001. Epub 2015 Aug 10.
PubMed 26341673Hao J, Kelly DI, Su J, Pascual JM. Clinical Aspects of Glucose Transporter Type 1 Deficiency: Information From a Global Registry. JAMA Neurol. 2017 Jun 1;74(6):727-732. doi: 10.1001/jamaneurol.2017.0298.
PubMed 28437535Pascual 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 25110966
Study at a glance
From the registry record, last updated by the sponsor on 7 Aug 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Dietary Treatment of Glucose Transporter Type 1 Deficiency (G1D)
- ClinicalTrials.gov ID
- NCT03181399
- Acronym / sponsor ID
- 122016-013
- Conditions
- GLUT1DS1, Epilepsy, Glut1 Deficiency Syndrome 1, Autosomal Recessive, Glucose Metabolism Disorders, Glucose Transport Defect, Glucose Transporter Type 1 Deficiency Syndrome
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 45 participants (actual)
- Lead sponsor
- University of Texas Southwestern Medical CenterUniversity, hospital or other
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS)
- Study start
- 18 Apr 2018 (actual)
- Primary completion
- 10 Sep 2023 (actual)
- Study completion
- 10 Sep 2023 (actual)
- First posted
- 8 Jun 2017 (actual)
- Results
- Posted 13 Apr 2025
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Forty-five subjects receiving no dietary therapy with a proven G1D diagnosis will be enrolled. To evaluate the effect of C7 supplementation of a regular diet on a EEG activity in addition to IQ, language, working memory, processing speed, emotional and behavioral functioning, ataxia, and other neuropsychological and neurological performance indices in children and adults genetically diagnosed with G1D receiving a regular diet at enrollment.
Detailed description
This is an open-label, single arm trial of orally-administered C7 in G1D. Subjects will replace a fixed percentage of their daily caloric intake (based on the results of Protocol 1) with C7 for 6 months, undergo full evaluation and discontinuation of treatment at a 6 month visit, and return for an off-treatment follow up visit 3 months after C7 oil discontinuation, for total duration of participation of 9 months. Subjects will undergo treatment initiation on a 24-hour inpatient basis. During that 24-hr inpatient treatment initiation, subjects will have continuous EEG both to monitor for real-time seizure activity (for safety) and to determine EEG changes (secondary outcome) before, during, and after treatment initiation. Subjects will undergo clinical evaluation, comprehensive blood work, ataxia scale rating, EEG, and neuropsychological testing at baseline, 6 months, and 9 months.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- All subjects will receive supplementation at the maximum tolerated dose.
| Arm | Type | Receives |
|---|---|---|
| Triheptanoin | Experimental | Drug: TriheptanoinThis is a single arm study. |
Who may qualify
- Ages
- 24 months to 35 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (3 listed)
- Diagnosis of glucose transporter type I deficiency (G1D), confirmed by clinical genotyping at a CLIA-certified laboratory or by PET scan.
- Stable diet on either a modified atkins diet or on no dietary therapy (i.e., no dietary therapy for 1 month).
- Males and females 24 months to 35 years old, inclusive.
Key exclusion criteria (12 listed)
- Subjects with evidence of independent, unrelated metabolic and/or genetic disease.
- Subjects with a chronic gastrointestinal disorder, such as irritable bowel syndrome, Crohn's disease, or colitis that could increase the subject's risk of developing diarrhea or stomach pain.
- Subjects with a BMI (body mass index) greater than or equal to 30.
- Subjects currently on dietary therapy (i.e., ketogenic diet, medium chain triglyceride supplemented diets, Atkins diet, low glycemic index diet).
- Subjects with no evidence of abnormal EEG (spike wave discharges) in the last 12 months.
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: C7. Triheptanoin will be taken 4 times per day (approximately every 6 hours: prior to breakfast, lunch and dinner and a mid-afternoon snack) by mouth. It is dosed 4 times per day, divided evenly. | Drug | Triheptanoin |
Primary outcome
Neuropsychological Score of Sustained Attention
Time frame: Change post 6 months of treatment
Sustained attention was evaluated using a subtest of Conners' Kiddie Continuous Performance Test Second Edition (K-CPT 2): CPT-Hit Reaction Time Block Change. CPT HRT BC indicates the change in mean response speed as the administration of the test progresses in blocks. A decrease in CPT HRT BC indicates a decrease in reaction time, which means the participant's information processing efficiency increases, and an improvement in sustained attention is noted. The number of participants that showed a decrease in the CPT HRT BC score after 6 months of treatment as compared to baseline is noted here.
Neuropsychological Score of Sustained Attention
Time frame: Change after 3 months off treatment
Sustained attention was evaluated using a subtest of Conners' Kiddie Continuous Performance Test Second Edition (K-CPT 2): CPT-Hit Reaction Time Block Change. CPT HRT BC indicates the change in mean response speed as the administration of the test progresses in blocks. A decrease in CPT HRT BC indicates a decrease in reaction time, which means the participant's information processing efficiency increases, and an improvement in sustained attention is noted. The off-treatment period of 3 months was implemented to study whether the impact of treatment persists or goes back to baseline. The number of patients that displayed an increase in CPT HRT BC score (towards baseline) after 3 months off treatment as compared to 6 months on treatment is noted here.
Neuropsychological Score of Working Memory Index Scale (WMI)
Time frame: Change post 6 months of treatment
Subjects were administered the Working Memory Index Scale (WMI) from either the Wechsler Primary and Preschool Scale of Intelligence, 4th Edition (WPPSI-IV), Wechsler Intelligence Scale for Children, 5th Edition (WISC-V), or the Wechsler Adult Intelligence Scale, 4th Edition (WAIS-IV) according to the age of subject. An increase WMI score would indicate an improvement in the cognitive ability of identifying, reorganizing and retaining information for a brief period of time. The number of participants that showed an increase in the WMI score after 6 months of treatment is noted here.
Neuropsychological Score of Working Memory Index Scale (WMI)
Time frame: Change after 3 months off-treatment
Subjects were administered the Working Memory Index Scale (WMI) from either the Wechsler Primary and Preschool Scale of Intelligence, 4th Edition (WPPSI-IV), Wechsler Intelligence Scale for Children, 5th Edition (WISC-V), or the Wechsler Adult Intelligence Scale, 4th Edition (WAIS-IV) according to the age of subject. An increase WMI score would indicate an improvement in the cognitive ability of identifying, reorganizing and retaining information for a brief period of time. The 3 months off-treatment period was designed to study whether the impact of treatment persists or goes back to baseline. The number of participants that showed a decrease in the WMI score after 3 months off treatment as compared to 6 months on treatment was calculated.
Neuropsychological Score of Processing Speed Index (PSI)
Time frame: Change post 6 months of treatment
Subjects were administered the Processing Speed Index Scale (PSI) from either the Wechsler Primary and Preschool Scale of Intelligence, 4th Edition (WPPSI-IV), Wechsler Intelligence Scale for Children, 5th Edition (WISC-V) or the Wechsler Adult Intelligence Scale, 4th Edition (WAIS-IV) according to the age of subject. An increase PSI score would indicate an improvement in the motor-based estimate of the subject's cognitive processing speed. The number of participants that showed an increase in the PSI score after 6 months of treatment as compared to baseline is noted here.
Neuropsychological Score of Processing Speed Index (PSI)
Time frame: Change after 3 months off-treatment
Subjects were administered the Processing Speed Index Scale (PSI) from either the Wechsler Primary and Preschool Scale of Intelligence, 4th Edition (WPPSI-IV), Wechsler Intelligence Scale for Children, 5th Edition (WISC-V) or the Wechsler Adult Intelligence Scale, 4th Edition (WAIS-IV) according to the age of subject. An increase PSI score would indicate an improvement in the motor-based estimate of the subject's cognitive processing speed. The 3 months off-treatment period was designed to study whether the impact of treatment persists or goes back to baseline. The number of participants that showed a decrease in the WMI score after 3 months off treatment as compared to 6 months on treatment was calculated.
6 secondary outcomes
EEG Changes: Generalized Spike Wave Activity and Burst
Time frame: Change post 6 months of treatment
EEG Changes: Generalized Spike Wave Activity and Burst
Time frame: Change after 3 months off-treatment
Brief Ataxia Rating Scale
Time frame: Change post 6 months of treatment
Brief Ataxia Rating Scale
Time frame: Change after 3 months off treatment
Clinical Global Impression Severity Scale
Time frame: Change post 6 months of treatment
Clinical Global Impression Severity Scale
Time frame: Change after 3 months off-treatment
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 7 Aug 2025.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
- Background: PubMed 26341673Pascual JM, Ronen GM. Glucose Transporter Type I Deficiency (G1D) at 25 (1990-2015): Presumptions, Facts, and the Lives of Persons With This Rare Disease. Pediatr Neurol. 2015 Nov;53(5):379-93. doi: 10.1016/j.pediatrneurol.2015.08.001. Epub 2015 Aug 10.
- Background: PubMed 28437535Hao J, Kelly DI, Su J, Pascual JM. Clinical Aspects of Glucose Transporter Type 1 Deficiency: Information From a Global Registry. JAMA Neurol. 2017 Jun 1;74(6):727-732. doi: 10.1001/jamaneurol.2017.0298.
- 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.
- Individual participant dataSharing planned: No
Related trials for GLUT1DS1
RecruitingObservational study
Brain Metabolism Observed at 3 Tesla or 7 Tesla in Health and Metabolic Disease
Glut1 Deficiency Syndrome 1, Glucose Metabolism Disorders
RecruitingPhase 2
A Phase II Study With Exploratory Outcomes of Fucose Supplementation in GLUT1 Deficiency Syndrome
Glut1 Deficiency, GLUT1DS1
Active, not recruitingObservational study
Harmonic Ratio in Patients With GLUT1 Deficiency Syndrome
GLUT1DS1, Dystonia
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.
Juan Pascual, MD principal investigator
Study Principal Investigator
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing Triheptanoin in people with GLUT1DS1 and Epilepsy, run by University of Texas Southwestern Medical Center 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 3 inclusion and 12 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: finished, as of the sponsor's last update on 7 Aug 2025. 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.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
Yes. Results are posted in the registry (first posted 13 Apr 2025). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
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.
What does the primary outcome measure?
Neuropsychological Score of Sustained Attention (time frame: Change post 6 months of treatment). The study lists 6 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03181399, 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 7 Aug 2025.