Adolescents and adults diagnosed with fragile X syndrome (FXS) showed improvement in social gaze behavior — measured by their ability to maintain visual contact and the eye’s pupil reactivity — when treated with Novartis’ mavoglurant.
FXS is a neurodevelopment disorder characterized by disturbances in behavior and cognitive defects due to an error on the FMR1 gene, located in the X chromosome.
The absence of the FMRP protein results in brain underdevelopment and gives rise to problems such as intellectual disability, comorbid autism or autistic behaviors and high rates of anxiety and social withdrawal, accompanied by lack of attention and distraction.
FMRP regulates protein production at the synapse — the site where neurons communicate — via metabotropic glutamate receptors (mGluRs), among other targets. Glutamate is