Clinical research study for individuals diagnosed with autism spectrum disorder and PTEN hamartoma tumor syndrome

We are currently conducting a clinical research study at Boston Children’s Hospital for individuals between the ages of 3 and 21 years old with PTEN hamartoma tumor syndrome for a new study. The goal of this study is to gain a better understanding of PTEN mutation syndromes to identify early markers and ultimately develop 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). Follow this link for more information about this Consortium. 

English speaking individuals diagnosed with PTEN hamartoma tumor syndrome and/or autism spectrum disorder 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.

If you are interested in participating in this research study please contact Sarah Mischianti at 617-919-3499 or

Boston Children's Hospital to lead NIH-funded Rare Diseases Consortium studying autism and intellectual disability.