The purpose of this project is to study the efficacy of triheptanoin oil in patients with GLUT1 deficiency syndrome.
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
INTERVENTIONAL
Allocation
NA
Purpose
TREATMENT
Masking
NONE
Enrollment
20
Brain and Spine Institute
Paris, France
Number of paroxystic events
The number of paroxystic events, in particular abnormal movements, will be collected during trihepatnoin treatment.
Time frame: 6 months
Safety
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.
Time frame: 6 months
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
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Fatigue Visual Scale
Time frame: 6 months
Brain 31phosphorus magnetic resonance spectroscopy
Ratio of Inorganic Phosphate (Pi) over Phosphocreatine during visual stimulation
Time frame: 6 months