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

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ClinicalTrials.gov Identifier: NCT02014883
Recruitment Status : Unknown
Verified January 2014 by Institut National de la Santé Et de la Recherche Médicale, France.
Recruitment status was:  Recruiting
First Posted : December 18, 2013
Last Update Posted : May 1, 2015
Sponsor:
Collaborator:
Ultragenyx Pharmaceutical Inc
Information provided by (Responsible Party):
Institut National de la Santé Et de la Recherche Médicale, France

Tracking Information
First Submitted Date  ICMJE December 3, 2013
First Posted Date  ICMJE December 18, 2013
Last Update Posted Date May 1, 2015
Study Start Date  ICMJE December 2013
Estimated Primary Completion Date May 2015   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures  ICMJE
 (submitted: December 12, 2013)
Number of paroxystic events [ Time Frame: 6 months ]
The number of paroxystic events, in particular abnormal movements, will be collected during trihepatnoin treatment.
Original Primary Outcome Measures  ICMJE Same as current
Change History
Current Secondary Outcome Measures  ICMJE
 (submitted: December 12, 2013)
  • Safety [ Time Frame: 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.
  • 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 ]
    Ratio of Inorganic Phosphate (Pi) over Phosphocreatine during visual stimulation
Original Secondary Outcome Measures  ICMJE Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title  ICMJE Phase II Open Label Study Using Triheptanoin in Patients With Glucose Type 1 Transporter Deficiency GLUT1-DS
Official Title  ICMJE Phase II Open Label Study Using Triheptanoin in Patients With Glucose Type 1 Transporter Deficiency GLUT1-DS
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)
Study Type  ICMJE Interventional
Study Phase  ICMJE Phase 2
Study Design  ICMJE Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Condition  ICMJE Glut1 Deficiency Syndrome
Intervention  ICMJE Drug: GLUT1 DS
Study Arms  ICMJE Experimental: GLUT1 DS
Intervention: Drug: GLUT1 DS
Publications * Mochel F, Hainque E, Gras D, Adanyeguh IM, Caillet S, Héron 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.

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status  ICMJE Unknown status
Estimated Enrollment  ICMJE
 (submitted: December 12, 2013)
20
Original Estimated Enrollment  ICMJE Same as current
Estimated Study Completion Date  ICMJE April 2018
Estimated Primary Completion Date May 2015   (Final data collection date for primary outcome measure)
Eligibility Criteria  ICMJE

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
Sex/Gender  ICMJE
Sexes Eligible for Study: All
Ages  ICMJE 3 Years and older   (Child, Adult, Older Adult)
Accepts Healthy Volunteers  ICMJE No
Contacts  ICMJE Contact information is only displayed when the study is recruiting subjects
Listed Location Countries  ICMJE France
Removed Location Countries  
 
Administrative Information
NCT Number  ICMJE NCT02014883
Other Study ID Numbers  ICMJE C13-37
2013-A01300-45 ( Registry Identifier: IDRCB )
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement  ICMJE Not Provided
Responsible Party Institut National de la Santé Et de la Recherche Médicale, France
Study Sponsor  ICMJE Institut National de la Santé Et de la Recherche Médicale, France
Collaborators  ICMJE Ultragenyx Pharmaceutical Inc
Investigators  ICMJE
Principal Investigator: Fanny Mochel, MD, PhD Institut National de la Santé Et de la Recherche Médicale, France
PRS Account Institut National de la Santé Et de la Recherche Médicale, France
Verification Date January 2014

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP