Glut1 Deficiency Syndrome Clinical Trial
Official title:
Phase II Open Label Study Using Triheptanoin in Patients With Glucose Type 1 Transporter Deficiency GLUT1-DS
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) ;
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