Fragile X Spectrum and new Targeted Treatments for FXS and ASD

Fragile X Spectrum Disorders (FXSD) include Fragile X syndrome (FXS), the most common single gene cause of autism spectrum disorder (ASD) and the most common heritable cause of intellectual disability, and several premutation disorders characterized by the premutation of FMR1. Premutation disorders have become more widely recognized over the last decade and they include the most common genetic cause of early ovarian failure and infertility, FXPOI, the fragile X-associated neuropsychiatric disorders (FXAND) and a neurodegenerative disorder of older carriers called the fragile X-associated tremor ataxia syndrome (FXTAS). The Clinical Trials Program at the MIND Institute has led many trials of targeted treatments for FXS and other conditions and the commonalities across disorders will be emphasized because one medication can be beneficial for several disorders. The neurobiology of why cannabidiol (CBD) is helpful for FXS and for ASD in addition to the benefits of metformin and bumetanide will be reviewed. The need for treatments that improve mitochondrial function, such as Anavex 2-73 can make a difference for both neurodevelopmental disorders and neurodegenerative disorders including Rett syndrome, FXS, Parkinson Disease, Alzheimer Disease and FXTAS. Future new treatments for FXSD will be reviewed including genetic interventions.