Targeted treatment trials for tuberous sclerosis and autism: no longer a dream

Genetic disorders that present with a high incidence of autism spectrum disorders (ASD) offer tremendous potential both for elucidating the underlying neurobiology of ASD and identifying therapeutic drugs and/or drug targets. As a result, clinical trials for genetic disorders associated with ASD are no longer a hope for the future but rather an exciting reality whose time has come. Tuberous sclerosis complex (TSC) is one such genetic disorder that presents with ASD, epilepsy, and intellectual disability. Cell culture and mouse model experiments have identified the mTOR pathway as a therapeutic target in this disease. This review summarizes the advantages of using TSC as model of ASD and the recent advances in the translational and clinical treatment trials in TSC.

► Mouse models suggest the possibility of rescue of neurological symptoms in TSC. ► mTOR inhibitors have proven clinically effective in TSC-associated tumors. ► mTOR inhibitors are currently being tested for efficacy in neurocognitive outcomes in children with TSC. ► Investigating TSC and other genetic disorders associated with ASD may lead to the development of therapies for neurodevelopmental disorders.