Phase II Open Label Study Using Triheptanoin in Patients With Glucose Type 1 Transporter Deficiency GLUT1-DS

NCT02014883 | Completed Phase 2

• 2 other identifiers: C13-372013-A01300-45
• Study Type: interventional
• Target: 20
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this project is to study the efficacy of triheptanoin oil in patients with GLUT1 deficiency syndrome.

Conditions

Glut1 Deficiency Syndrome

Outcome Measures

Primary Outcomes (1)

• Number of paroxystic events

  The number of paroxystic events, in particular abnormal movements, will be collected during trihepatnoin treatment.

  6 months

Secondary Outcomes (9)

• Safety

  6 months

• 6 minutes walk test

  6 months

• 9 hole Peg board

  6 months

• Clinical Global Impression Scales

  6 months

• Schwab-England scale

  6 months

Study Arms (1)

GLUT1 DS

EXPERIMENTAL

Drug: GLUT1 DS

Interventions

GLUT1 DS DRUG

GLUT1 DS

Eligibility Criteria

• Age: 3 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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)

You may not qualify if:

• 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
• 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

Sponsors & Collaborators

• Institut National de la Santé Et de la Recherche Médicale, France: lead
• Ultragenyx Pharmaceutical Inc: collaborator

Study Sites (1)

Brain and Spine Institute

Paris, 75013, France

Location

Related Publications (3)

• 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.

  PMID: 31694879 BACKGROUND

• Hainque 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.

  PMID: 30948626 BACKGROUND

• 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.

  PMID: 26536893 BACKGROUND

MeSH Terms

Conditions

Glut1 Deficiency Syndrome

Study Officials

• Fanny Mochel, MD, PhD

  Institut National de la Santé Et de la Recherche Médicale, France

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 3, 2013
• First Posted: December 18, 2013
• Study Start: December 4, 2013
• Primary Completion: July 4, 2019
• Study Completion: July 4, 2019
• Last Updated: October 3, 2025

Record last verified: 2021-08

Locations

FR (1)