Kathie Bishop, PhD, Chief Scientific Officer, Acadia Pharmaceuticals, discusses the proposed mechanism of action of trofinetide, an orphan drug in development to treat Rett syndrome.
Rett syndrome is a rare progressive neurodevelopmental condition that primarily affects girls. These girls appear to have normal psychomotor development during the first 6 to 18 months of life, followed by a developmental “plateau,” and then rapid regression in language and motor skills.
As Dr. Bishop explains, trofinetide is a synthetic analog of the amino‐terminal tripeptide of IGF-1. It is designed to treat the core symptoms of Rett syndrome by potentially reducing neuroinflammation and supporting synaptic function. Trofinetide is thought to stimulate synaptic maturation and overcome the synaptic and neuronal immaturities that are characteristic of Rett syndrome pathophysiology. In the central nervous system, IGF-1 is produced by both neurons and glia, and is critical for both normal development and for response to injury and disease. Recently, positive top-line results from the Lavender study, which evaluated the safety and efficacy of trofinetide, were announced. In this study, trofinetide met both co-primary efficacy endpoints, demonstrating statistically significant improvement over placebo in the Rett Syndrome Behaviour Questionnaire (RSBQ) (p=0.0175) and the Clinical Global Impression of Improvement (CGI-I) (p=0.0030).
For more information about Rett syndrome and other rare neurological disorders, visit checkrare.com/diseases/neurology