ΒιΆΉΤΌΕΔ

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-serineβ€”a safe, widely available amino acid that boosts key brain receptorsβ€”to see if it calms over active circuits. First in mice, then in a small β€œone child at a time” trial, we’ll measure seizure control and development. If effective, L-serine could become the first targeted therapy, offering families rapid, real hope.

Jean Francois Perrier