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

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

Status and phase

Completed

Phase 2

Conditions

Glut1 Deficiency Syndrome

Treatments

Drug: GLUT1 DS

Study type

Interventional

Funder types

Other

Industry

Identifiers

2013-A01300-45 (Registry Identifier)

C13-37

Details and patient eligibility

About

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

Full 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)

Enrollment

20 patients

Sex

All

Ages

3+ years old

Volunteers

No Healthy Volunteers

Inclusion criteria

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)

Exclusion criteria

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
Person subject to an exclusion period for another research
Subjects with exclusion criteria required by french law