Trial Search Results

Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations

The purpose of this study is to determine cross-sectional and longitudinal medical, behavioral, and cognitive differences between PTEN ASD and other groups, as well as to identify cognitive, neural systems, and molecular biomarkers specific to PTEN ASD. In addition, this study will be creating and maintaining a biorepository and linked phenotypic database for PTEN ASD.

Stanford is currently not accepting patients for this trial.

Lead Sponsor:

Boston Children's Hospital

Collaborator: National Institutes of Health (NIH)

Stanford Investigator(s):


Inclusion Criteria

   - Individuals above the age of 18 months old at the time of consent who have
   documentation of a clinical diagnosis of autism spectrum disorder and/or a verified
   PTEN mutation from a medical or mental health professional for inclusion in the PTEN
   ASD, PTEN no-ASD or ASD macrocephaly groups.

   - Macrocephaly (head circumference greater than or equal to 98th percentile) for
   inclusion in the ASD macrocephaly group.

   - For youths, consent from parents or legal guardian. For adults, consent from self or
   legal guardian.

   - Youths who are able (some young or severely impaired participants may not be able to
   provide assent) will be asked to provide assent as per IRB guidelines.

   - Families with multiple children who meet the above inclusion criteria will be
   permitted to have as many children participate as they wish. A separate consent form
   will be filled out for each child enrolled in the study.

   - Primary communicative language must be English

Exclusion Criteria

   - Unwilling or unable to comply with study procedures and assessments

   - Clinically significant medical disease that would prohibit participation in the study

   - For subjects ELIGIBLE FOR OPTIONAL imaging biomarker assessment: contraindications to
   3T MRI scanning, such as metal implants/non-compatible medical devices or medical
   conditions, including vagus nerve stimulator.

   - For subjects ELIGIBLE FOR EEG/ERP biomarker assessment: contraindications to EEG/ERP,
   such as uncooperative or destructive behaviors preventing lead placement or capture by
   ERP/VEP equipment. Under age 2 or over 11 at the time of enrollment.

Ages Eligible for Study

18 Months - N/A

Genders Eligible for Study


Not currently accepting new patients for this trial

Contact Information

Stanford University
School of Medicine
300 Pasteur Drive
Stanford, CA 94305
Robin Libove
Not Recruiting