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

Sponsor
Institut National de la Santé Et de la Recherche Médicale, France (Other)
Overall Status
Completed
CT.gov ID
NCT02014883
Collaborator
Ultragenyx Pharmaceutical Inc (Industry)
20
Enrollment
1
Location
1
Arm
67
Actual Duration (Months)
0.3
Patients Per Site Per Month

Study Details

Study Description

Brief Summary

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

Condition or Disease Intervention/Treatment Phase
  • Drug: GLUT1 DS
 Phase 2

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

Study Type:
Interventional
Actual Enrollment :
20 participants
Allocation:
N/A
Intervention Model:
Single Group Assignment
Masking:
None (Open Label)
Primary Purpose:
Treatment
Official Title:
Phase II Open Label Study Using Triheptanoin in Patients With Glucose Type 1 Transporter Deficiency GLUT1-DS
Actual Study Start Date :
Dec 4, 2013
Actual Primary Completion Date :
Jul 4, 2019
Actual Study Completion Date :
Jul 4, 2019

Arms and Interventions

Arm Intervention/Treatment
Experimental: GLUT1 DS

Drug: GLUT1 DS

Outcome Measures

Primary Outcome Measures

  1. Number of paroxystic events [6 months]

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

Secondary Outcome Measures

  1. Safety [6 months]

    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.

  2. 6 minutes walk test [6 months]

  3. 9 hole Peg board [6 months]

  4. Clinical Global Impression Scales [6 months]

  5. Schwab-England scale [6 months]

  6. Vineland Scale [6 months]

  7. Fatigue Severity Scale [6 months]

  8. Fatigue Visual Scale [6 months]

  9. Brain 31phosphorus magnetic resonance spectroscopy [6 months]

    Ratio of Inorganic Phosphate (Pi) over Phosphocreatine during visual stimulation

Eligibility Criteria

Criteria

Ages Eligible for Study:
3 Years and Older
Sexes Eligible for Study:
All
Accepts Healthy Volunteers:
No
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

Contacts and Locations

Locations

Site City State Country Postal Code
1 Brain and Spine Institute Paris France 75013

Sponsors and Collaborators

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

Investigators

  • Principal Investigator: Fanny Mochel, MD, PhD, Institut National de la Santé Et de la Recherche Médicale, France

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.
Responsible Party:
Institut National de la Santé Et de la Recherche Médicale, France
ClinicalTrials.gov Identifier:
NCT02014883
Other Study ID Numbers:
  • C13-37
  • 2013-A01300-45
First Posted:
Dec 18, 2013
Last Update Posted:
Aug 25, 2021
Last Verified:
Aug 1, 2021

Study Results

No Results Posted as of Aug 25, 2021