7903: Natural History Study of Individuals with Autism and Germline Heterozygous PTEN Mutations

Status: Recruiting


Study Summary

The purpose of this study is to learn more about the symptoms and characteristics of people with autism spectrum disorders and PTEN mutations with the goal of gaining more information about risk management and identify biomarkers (symptoms or characteristics of a disease at a certain stage) for intervention studies.

For Diseases: PTEN hamartoma tumor syndrome, Cowden syndrome, Autism spectrum disorder, PTEN-related disorders



PTEN is a gene which, when mutated, can cause tumors or growths in the body. Individuals with a PTEN mutation can also have developmental delays, autism spectrum disorder or other impairments. Studies in the past suggest that there is a link between autism and PTEN gene mutations. The purpose of this research study is to carefully track the phenotypic (physical) and molecular characteristics of PTEN ASD and identify biomarkers for intervention studies.


About this Study

Individuals with PTEN ASD (ages 3 to 21) who have macrocephalic ASD but do not have a PTEN mutation (macro-ASD), healthy controls, and individuals with PTEN mutations who do not have ASD (PTEN no-ASD) will be asked to participate in this study. Both males and females will be asked to participate. Additionally, to be eligible for study participation, individuals’ primary language must be English.

The study involves 5 visits, 3 of which occur on site, over the course of two years. Study visits will vary in length, ranging from about 4 hours to 6 hours. Study visits involve a physical exam, medical history questions and assessments that look at behavior and development. The study will also include a blood draw to be done at one time point during the study. If individuals have a clinically indicated MRI, the scan will take 15 minutes longer as a part of the study

This study is taking place at 4 institutions throughout the country: Boston Children's Hospital, Cleveland Clinic, Stanford University Medical Center and University of California at Los Angeles.


Targeted Enrollment

To be eligible to participate, you must meet the following criteria:

  1. Between the ages of 3 to 21 years old
  2. Have a clinical diagnosis of ASD and/or and verified mutation of the PTEN gene
  3. Primary language is English

You are not eligible to participate if:

  1. Younger than 3 years old or older than 21 years old
  2. Primary language is not English
  3. History of significant brain lesions or pathology including history of large vessel strokes, brain tumors or previous neurosurgery.

How to participate:

If you are interested in participating in this research or would like to learn more about it, please contact Sarah Mischianti at Sarah.Mischianti@childrens.harvard.edu or 617-919-3499. Additional participating sites located here.