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

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Interventional

Official Title: 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 Summary:

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)

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

Current Primary Outcome: 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: Same as current

Current Secondary Outcome:

  • 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: Same as current

Information By: Institut National de la Santé Et de la Recherche Médicale, France

Dates:
Date Received: December 3, 2013
Date Started: December 2013
Date Completion: April 2018
Last Updated: April 30, 2015
Last Verified: January 2014