Tuberous Sclerosis Research Paper

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Developing medicines for autism: Insights from tuberous sclerosis

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder with both core symptoms and associated symptoms (eg, irritability, aggression, and comorbidities) that affect both the individual and the family/systems around them. There have been recent advances in the understanding of the underlying pathophysiology of ASD pertaining to genetics, epigenetics, neurological, hormonal, and environmental factors that contribute to the difficulties found in individuals with ASD. With this improved understanding, there has been a shift in the application of psychopharmacology in ASD and its related disorders.
Tuberous sclerosis complex (TSC) is a rare genetic disorder that involves the early growth of non-cancerous tumors in the brain and …show more content…
Sahin and his research team recently concluded a phase II clinical trial testing the ability of the anti-tumor drug everolimus to improve cognition and reduce symptoms of autism, epilepsy and disturbed sleep in children with TSC. A research grant from Autism Speaks helped fund the study, alongside support from the Tuberous Sclerosis Alliance and the healthcare company Novartis.
In news reports over the last three years, several families reported dramatic improvements in some of the 47 children with TSC and autism who participated in the study. Dr. Sahin cautions, however, that his team has only recently unmasked which children received the actual medicine and which received a look-alike dummy pill. Only now can they begin analyzing whether the medicine is associated with significant improvements in cognition and symptoms.
Dr. Sahin also credited studies in animal models of autism for contributing to “crucial insights into how to develop better therapies.” By way of example, he noted that Autism Speaks Preclinical Autism Consortium for Therapeutics (PACT) is supporting the improvement of animal models and other tools for early testing of promising
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