Ascending Investigator
Jean-Francois Perrier
Innovative Therapies for STXBP1 Related Neurodevelopmental Encephalopathy
STXBP1 encephalopathy, a rare childhood brain disorder, triggers relentless seizures and severe developmental delays. No cure exists. We will test L-serine鈥攁 safe, widely available amino acid that boosts key brain receptors鈥攖o see if it calms over active circuits. First in mice, then in a small 鈥渙ne child at a time鈥 trial, we鈥檒l measure seizure control and development. If effective, L-serine could become the first targeted therapy, offering families rapid, real hope.