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

Status: Now Enrolling


Study Summary

The purpose of this study is to learn more about the symptoms and characteristics of people with autism spectrum disorders (ASD) and/or PTEN mutations with the goal of gaining more information about risk management and identifying 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 neurobehavioral difficulties. 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 ASD associated with PTEN mutations (PTEN ASD) and identify biomarkers for intervention studies.


About this Study

Individuals ages 18 months and older whose primary language is English will be eligible for the study if they have a mutation in the PTEN gene (PTEN no-ASD), a history of ASD (Macro-ASD), or both (PTEN-ASD). Healthy controls in this age range will also be invited to participate. Both males and females will be asked to participate.

The study involves 2-3 visits over the course of 2-4 years. Study visits involve a physical exam, medical history questions, a blood draw, and assessments/questionnaires to examine development, behavior, and thinking skills. A subset of participants ages 2-12 will also be invited to complete an electroencelphalogram (EEG), to measure brain activity, as part of the study. If individuals have clinically indicated procedures (e.g., brain MRI, CT scan) performed, they will be asked to share their medical records and brain images (optional).

This study is taking place at 5 institutions throughout the country: Boston Children's Hospital, Cleveland Clinic, Cincinnati Children's Hospital Medical Center, 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. Individuals above 18 months of age at the time of consent
  2. Have a clinical diagnosis of ASD and/or and verified mutation of the PTEN gene
  3. Macrocephaly (large head) for inclusion in the macrocephalic ASD without PTEN mutation group (Macro-ASD
  4. Primary language is English

You are not eligible to participate if:

  1. Unable or unwilling to comply with study procedures and assessments
  2. Clinically significant medical disease that would prevent participation in the procedures
  3. Primary language is not English

How to participate:

If you are interested in participating in this research or would like to learn more about it, please contact Amy Mason at Amy.Mason@childrens.harvard.edu.