Rapalogues for Autism Phenotype in TSC: A Feasibility Study

Summary

The purpose of this study is to assess the feasibility and safety of administering rapalogues, sirolimus or everolimus, in participants with Tuberous Sclerosis Complex (TSC) and self-injury and to measure cognitive and behavioral changes, including reduction in autistic symptoms, self-injurious and aggressive behaviors, as well as improvements in cognition across multiple domains of cognitive function.

Timeline

Start

2013-07

Primary completion

2016-07

Completion

2016-08

Publications

• Background Napolioni V, Curatolo P. Genetics and molecular biology of tuberous sclerosis complex. Curr Genomics. 2008 Nov;9(7):475-87. doi: 10.2174/138920208786241243.
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• Background Mirenda P, Smith IM, Vaillancourt T, Georgiades S, Duku E, Szatmari P, Bryson S, Fombonne E, Roberts W, Volden J, Waddell C, Zwaigenbaum L; Pathways in ASD Study Team. Validating the Repetitive Behavior Scale-revised in young children with autism spectrum disorder. J Autism Dev Disord. 2010 Dec;40(12):1521-30. doi: 10.1007/s10803-010-1012-0.
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Drugs

Indications