Kathie Bishop, PhD, Chief Scientific Officer at Acadia Pharmaceuticals, provides an overview of Rett syndrome.
As Dr. Bishop explains, 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. Common symptoms include hand-wringing; fits of screaming and inconsolable crying; autistic features; panic-like attacks; bruxism; episodic apnea and/or hyperpnea; gait ataxia and apraxia; tremors; seizures; and slowed head growth. Rett syndrome is most commonly caused by a sporadic mutation in the MECP2 gene on the X chromosome. The majority of cases are not inherited from a parent.
Recently, positive top-line results were announced from the Lavender study, which evaluated the safety and efficacy of investigational therapy, trofinetide. In this study, trofinetide met both co-primary efficacy endpoints, demonstrating statistically significant improvement over placebo in the Rett Syndrome Behaviour Questionnaire (RSBQ) and the Clinical Global Impression of Improvement (CGI-I).
For more information about Rett syndrome and other rare neurological disorders, visit checkrare.com/diseases/neurology
