Metabolic epilepsy

This Phase 3 trial tests a single inhaled dose of alprazolam (a fast-acting sedative) to stop prolonged seizures in people aged 12 and older. The goal is to see if it can end a seizure within 90 seconds and prevent it from coming back for at least 2 hours. About 350 participants …

This study tests whether a sugar called L-fucose can improve movement and coordination in adults with GLUT1 deficiency syndrome, a rare genetic disorder that affects the brain's energy supply. Sixteen participants will receive either fucose or a placebo for a period, then switch,…

This study tests an oral form of pyridoxal 5'-phosphate (P5P), a vitamin B6 derivative, for people with a rare genetic condition called PNPO deficiency. The condition causes hard-to-control seizures. The study will enroll 15 patients aged 2 years and older who already take P5P to…

This study investigates how rehearsal (repeating information) and sleep help solidify memories in people with epilepsy. Participants learn object-location pairs, with some pairs rehearsed and others not, and their memory is tested after a short delay and again after 12 hours—eith…

This study aims to develop a better way to measure how the brain uses sugar (glucose) for energy. Researchers will use advanced MRI-like scans at 3 or 7 Tesla strength in 20 healthy volunteers and people with Glut1 deficiency, a rare condition that affects brain fuel. Participant…

This study uses powerful MRI scanners to look at the brains and spinal cords of 700 people, including healthy volunteers and those with conditions like multiple sclerosis, Alzheimer's, and Parkinson's. The goal is to understand why some brains stay healthy while others decline. R…