Glut1 Deficiency SyndromePhase 2GLUT-HEPNCT02014883
Phase II Open Label Study Using Triheptanoin in Patients With Glucose Type 1 Transporter Deficiency GLUT1-DS
A Phase 2 study testing GLUT1 DS in people with Glut1 Deficiency Syndrome, run by Institut National de la Santé Et de la Recherche Médicale, France at 1 site in France.
Trial summary
The purpose of this project is to study the efficacy of triheptanoin oil in patients with GLUT1 deficiency syndrome. Read more about this study
- Who is it for?
- Ages 3 years and older
- Conditions the study is for
- Glut1 Deficiency Syndrome
- What is being tested?
- GLUT1 DS
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 20 participants
- Where
- 1 siteFrance
- Study dates
- 4 Dec 2013to 4 Jul 2019
- Phase
- Phase 2
- 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
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Mutation in SLC2A1 gene
- Age > 3 years
- Patient with history/frequency of seizures or movement disorders documented at least 3 months prior to the beginning of the study
- Covered by french social security
- Patients who freely agree to participate in this study and understand the nature, risks and benefits of this study and give their written informed consent. (In addition to the requirement for the consent of parents or the legal representative, adolescents can provide additional informed consent to participate in clinical trials)
Who cannot join
- Evidence of psychiatric disorder
- Attendant neurological disorder
- Comorbid medical condition that would render them unsuitable for the study, e.g. HIV, diabetes
- Pregnant or parturient or lactating women
- Unwillingness to be informed in case of abnormal MRI
- Failure to give written informed consent
Show all 12Show fewer
- Unable to understand the protocol
- Unable to participate to the whole study
- Absence of signed informed consent
- Persons deprived of their liberty by judicial or administrative decision
- Person subject to an exclusion period for another research
- Subjects with exclusion criteria required by french law
Trial locations and contacts
1 site in 1 country.
About this study
The purpose of this project is to study the efficacy of triheptanoin oil in patients with GLUT1 deficiency syndrome.
Read the detailed description
The primary objective of the study is:
- to evaluate the capacity of triheptanoïn to improve the condition of patients with GLUT1-DS
The secondary objectives of the study are:
- to confirm the short-term safety of triheptanoïn therapy in patients with GLUT1-DS
- to evaluate the short-term effects of triheptanoïn treatment on motor function, autonomy, quality of life and clinical signs of patients with GLUT1-DS
- to evaluate the effect of triheptanoïn on brain energy metabolism using non-invasive 31P-MRS spectroscopy after activation of the occipital cortex in order to measure the levels of high-energy phosphates (such as ATP and phosphocreatine)
- Conditions
- Glut1 Deficiency Syndrome
- Being tested
- GLUT1 DS
- Medical subject headings
- Glut1 Deficiency Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
GLUT1 DSDrug
| Study group | Role | What they receive |
|---|---|---|
| GLUT1 DS | Experimental | Not described Receives: Drug: GLUT1 DS |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of paroxystic events
The number of paroxystic events, in particular abnormal movements, will be collected during trihepatnoin treatment.
Measured: 6 months
Secondary outcomes (9)
Safety
Should the whole blood levels of propionylcarnitine increase above 8 μmol/l, the dose of triheptanoin will be reduced until the decrease of whole blood propionylcarnitine is below 8 μmol/l. Should an organic acid abnormality such as an excessive urinary excretion of propionate metabolites such as 3-hydroxypropionic, 2-methylcitric, propionylglycine, tiglylglycine and/or methylmalonic acid occur, the dose of triheptanoin will be reduced until normalization of the organic acid and acylcarnitine profile. If still abnormal, patient will be excluded from the study. For GI distress, the research dietitian will instruct the patient regarding taking the dose over a longer period of time (30 minutes). If GI distress persists, triheptanoin dose will be reduced by 50% and re-increased progressively as the problems resolve with the patients working closely with research dietitian until tolerance of the full dose is achieved.
Measured: 6 months
6 minutes walk test
Measured: 6 months
9 hole Peg board
Measured: 6 months
Clinical Global Impression Scales
Measured: 6 months
Schwab-England scale
Measured: 6 months
Vineland Scale
Measured: 6 months
Fatigue Severity Scale
Measured: 6 months
Fatigue Visual Scale
Measured: 6 months
Brain 31phosphorus magnetic resonance spectroscopy
Ratio of Inorganic Phosphate (Pi) over Phosphocreatine during visual stimulation
Measured: 6 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Dec 2013 (estimated)
- Study start4 Dec 2013
- Primary completion4 Jul 2019
- Study completion4 Jul 2019
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 Glut1 Deficiency SyndromeStudies of the same condition, open and under way.
- More trials run by Institut National de la Santé Et de la Recherche Médicale, FranceThe 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
- Masking
- None (open label)
- Enrolment
- 20 participants (actual)
Sponsor and investigators
- Sponsor type
- Other government
- Collaborators
- Ultragenyx Pharmaceutical Inc
- Responsible party
- Sponsor
- Investigators
- Fanny Mochel, MD, PhD, Principal investigator, Institut National de la Santé Et de la Recherche Médicale, France
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02014883
- Sponsor's protocol ID
- C13-37
- Other IDs
- 2013-A01300-45
- Acronym
- GLUT-HEP
- Status last verified
- Aug 2021
- First submitted
- 3 Dec 2013
- Last updated
- 3 Oct 2025
- Results posted
- No
- Data monitoring committee
- No
Publications
Hainque E, Meneret A, Gras D, Atencio M, Luton MP, Barbier M, De Saint Martin A, Billette de Villemeur T, Ottolenghi C, Roze E, Mochel F. Transition from ketogenic diet to triheptanoin in patients with GLUT1 deficiency syndrome. J Neurol Neurosurg Psychiatry. 2020 Apr;91(4):444-445. doi: 10.1136/jnnp-2019-321694. Epub 2019 Nov 6. No abstract available.
PubMed 31694879Hainque E, Gras D, Meneret A, Atencio M, Luton MP, Barbier M, Doulazmi M, Habarou F, Ottolenghi C, Roze E, Mochel F. Long-term follow-up in an open-label trial of triheptanoin in GLUT1 deficiency syndrome: a sustained dramatic effect. J Neurol Neurosurg Psychiatry. 2019 Nov;90(11):1291-1293. doi: 10.1136/jnnp-2018-320283. Epub 2019 Apr 4. No abstract available.
PubMed 30948626Mochel 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 3 Oct 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Phase II Open Label Study Using Triheptanoin in Patients With Glucose Type 1 Transporter Deficiency GLUT1-DS
- ClinicalTrials.gov ID
- NCT02014883
- Acronym / sponsor ID
- GLUT-HEP / C13-37
- Conditions
- Glut1 Deficiency Syndrome
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 20 participants (actual)
- Lead sponsor
- Institut National de la Santé Et de la Recherche Médicale, FranceOther government
- Collaborators
- Ultragenyx Pharmaceutical Inc
- Study start
- 4 Dec 2013 (actual)
- Primary completion
- 4 Jul 2019 (actual)
- Study completion
- 4 Jul 2019 (actual)
- First posted
- 18 Dec 2013 (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.
The purpose of this project is to study the efficacy of triheptanoin oil in patients with GLUT1 deficiency syndrome.
Detailed description
The primary objective of the study is:
- to evaluate the capacity of triheptanoïn to improve the condition of patients with GLUT1-DS
The secondary objectives of the study are:
- to confirm the short-term safety of triheptanoïn therapy in patients with GLUT1-DS
- to evaluate the short-term effects of triheptanoïn treatment on motor function, autonomy, quality of life and clinical signs of patients with GLUT1-DS
- to evaluate the effect of triheptanoïn on brain energy metabolism using non-invasive 31P-MRS spectroscopy after activation of the occipital cortex in order to measure the levels of high-energy phosphates (such as ATP and phosphocreatine)
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| GLUT1 DS | Experimental | Drug: GLUT1 DS |
Who may qualify
- Ages
- 3 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (5 listed)
- Mutation in SLC2A1 gene
- Age > 3 years
- Patient with history/frequency of seizures or movement disorders documented at least 3 months prior to the beginning of the study
- Covered by french social security
- Patients who freely agree to participate in this study and understand the nature, risks and benefits of this study and give their written informed consent. (In addition to the requirement for the consent of parents or the legal representative, adolescents can provide additional informed consent to participate in clinical trials)
Key exclusion criteria (12 listed)
- Evidence of psychiatric disorder
- Attendant neurological disorder
- Comorbid medical condition that would render them unsuitable for the study, e.g. HIV, diabetes
- Pregnant or parturient or lactating women
- Unwillingness to be informed in case of abnormal MRI
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 |
|---|---|---|
| GLUT1 DS | Drug | GLUT1 DS |
Primary outcome
Number of paroxystic events
Time frame: 6 months
The number of paroxystic events, in particular abnormal movements, will be collected during trihepatnoin treatment.
9 secondary outcomes
Safety
Time frame: 6 months
6 minutes walk test
Time frame: 6 months
9 hole Peg board
Time frame: 6 months
Clinical Global Impression Scales
Time frame: 6 months
Schwab-England scale
Time frame: 6 months
Vineland Scale
Time frame: 6 months
Fatigue Severity Scale
Time frame: 6 months
Fatigue Visual Scale
Time frame: 6 months
Brain 31phosphorus magnetic resonance spectroscopy
Time frame: 6 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Oct 2025.
- Results publication: PubMed 31694879Hainque E, Meneret A, Gras D, Atencio M, Luton MP, Barbier M, De Saint Martin A, Billette de Villemeur T, Ottolenghi C, Roze E, Mochel F. Transition from ketogenic diet to triheptanoin in patients with GLUT1 deficiency syndrome. J Neurol Neurosurg Psychiatry. 2020 Apr;91(4):444-445. doi: 10.1136/jnnp-2019-321694. Epub 2019 Nov 6. No abstract available.
- Results publication: PubMed 30948626Hainque E, Gras D, Meneret A, Atencio M, Luton MP, Barbier M, Doulazmi M, Habarou F, Ottolenghi C, Roze E, Mochel F. Long-term follow-up in an open-label trial of triheptanoin in GLUT1 deficiency syndrome: a sustained dramatic effect. J Neurol Neurosurg Psychiatry. 2019 Nov;90(11):1291-1293. doi: 10.1136/jnnp-2018-320283. Epub 2019 Apr 4. No abstract available.
- Results publication: 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.
Fanny Mochel, MD, PhD principal investigator
Institut National de la Santé Et de la Recherche Médicale, France
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 GLUT1 DS in people with Glut1 Deficiency Syndrome, run by Institut National de la Santé Et de la Recherche Médicale, France at 1 site in France.
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 5 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 3 Oct 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 France. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
Number of paroxystic events (time frame: 6 months). 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 NCT02014883, 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 3 Oct 2025.