Clinical trial NCT02014883: Phase II Open Label Study Using Triheptanoin in Patients With Glucose Type 1 Transporter Deficiency GLUT1-DS
Official title: Phase II Open Label Study Using Triheptanoin in Patients With Glucose Type 1 Transporter Deficiency GLUT1-DS
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: PHASE2
Conditions: Glut1 Deficiency Syndrome
Lead sponsor: Institut National de la Santé Et de la Recherche Médicale, France
Sponsor class: OTHER_GOV
Collaborators: name: Ultragenyx Pharmaceutical Inc
First posted: 2013-12-18
Enrollment: 20
Sex: ALL
Minimum age (years): 3
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: TREATMENT

Brief summary: 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)

Eligibility criteria: 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

Primary outcomes:
measure: Number of paroxystic events
timeFrame: 6 months
Secondary outcomes:
measure: Safety
timeFrame: 6 months
measure: 6 minutes walk test
timeFrame: 6 months
measure: 9 hole Peg board
timeFrame: 6 months
measure: Clinical Global Impression Scales
timeFrame: 6 months
measure: Schwab-England scale
timeFrame: 6 months
measure: Vineland Scale
timeFrame: 6 months
measure: Fatigue Severity Scale
timeFrame: 6 months
measure: Fatigue Visual Scale
timeFrame: 6 months
measure: Brain 31phosphorus magnetic resonance spectroscopy
timeFrame: 6 months
Other outcomes:
Locations:
city: Paris
country: France
facility: Brain and Spine Institute
Study officials:
affiliation: Institut National de la Santé Et de la Recherche Médicale, France
name: Fanny Mochel, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.