About FX Learn

Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and autism spectrum disorder. Enormous progress in basic and translational FXS research has allowed identification of neuronal pathway targets for treatment of the underlying disorder. The most well-studied of these has been pharmacological (using mGluR5 negative allosteric modulators (NAMs)) and genetic reduction of excessive mGluR5 translational pathway signaling to correct abnormal synaptic plasticity, dendritic morphology, cellular signaling, electrophysiological, cognitive, social, behavioral and even growth phenotypes in FXS models.

NN107 sought to determine whether the human mGluR5 NAM trials failed because the animal model is not adequate or because the trials were not conducted in a way that benefit could be seen in a neurodevelopmental disorder (NDD). Indeed it may be that the benefits of translational work from preclinical models of NDDs can never be realized via standard drug development pathways. This NeuroNEXT trial used an innovative exploratory design to change the paradigm for translation of targeted treatments in FXS and determine whether AFQ056 can improve language learning in 100 very young (age 3-6 years) children with FXS during participation in an intensive language learning intervention (LLI), as a surrogate for enhanced neural plasticity.