Mapping the Genotype, Phenotype and Natural History of Phelan-McDermid Syndrome
The goal of this study is to gain a better understanding of Phelan-McDermid Syndrome to identify early markers and ultimately effective interventions for autism spectrum disorder. This is a multi-center research study conducted as part of the Rare Disease Clinical Research Network (RDCRN) and sponsored by the National Institutes of Health (NIH). English speaking individuals diagnosed with Phelan-McDermid syndrome are eligible to participate in this study if they are between the ages of 3 and 21 years old. The study involves five visits over a two year period. Three of the visits occur on site at the study location and involve a blood draw, physical and neurological exam and developmental testing. Two visits occur as phone calls and involve answering questionnaires about behavior and development.
Piloting Treatment with Insulin-like Growth Factor in Phelan-McDermid Syndrome
The purpose of this study is to pilot the use of Insulin-Like Growth Factor-1 (IGF-1) treatment in SHANK3 deficiency in order to evaluate safety, tolerability, and efficacy for a core deficit of autism – social impairment. IGF-1 is an injection under the skin that contains human IGF-1. IGF-1 is approved by the FDA under the brand name Increlex for the treatment of children with short stature due to primary IGF-1 deficiency. It is being used off-label in the current study and is not FDA approved, nor has it yet been studied in humans for the treatment of SHANK3 deficiency.
For more information on the above study, please contact the Seaver Autism Center at 212-241-0961.