EP002: Pilot study of insulin-like growth factor 1 on differing metabolic responders with Phelan-McDermid syndrome: Preliminary results

Abstract

Phelan-McDermid Syndrome (PMS) is a rare genetic neurodevelopmental disorder with variable clinical manifestations. These features can include intellectual disability, autism, developmental delays, and seizures. PMS can be caused by deletions within the 22q13 region or pathogenic variants of the SH3 and multiple ankyrin repeat domains 3 (SHANK3) gene, which plays an important role in the development, function, and maintenance of excitatory synapses. While there are currently no approved treatments for PMS, one potential therapy is insulin-like growth factor-1 (IGF-1).