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 Center for Advancing Translational Science (NCATS)

Stanford Investigator(s):


Inclusion Criteria:

   - Individuals ages 3 to 21 years old at the time of consent who have documentation of a
   clinical diagnosis of autism spectrum disorder diagnosis 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.

   - Youth ages 3-17 and adults age 18-21 who do not have an autism spectrum disorder or a
   PTEN mutation for inclusion in the control group.

   - Consent from parents or guardians or an adult with or suspected of having an autism
   spectrum disorder that does not require a legal guardian or an adult who is the
   healthy sibling of an individual with an autism spectrum disorder.

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

   - 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:

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

   - Individuals with contraindication to MRI will be excluded from the MRI portion of the
   study such as:

      1. Cardiac pacemaker.

      2. Intracranial aneurysm clips, metallic implants or external clips within 10 mm of
      the head.

      3. Implanted metallic devices such as pumps or neuro-stimulator devices.

      4. Metallic foreign material within the orbits.

      5. Pregnancy.

      6. Claustrophobia.

   - No history of significant brain lesions or pathology including:

      1. History of large vessel strokes, brain tumors or previous neurosurgery.

Ages Eligible for Study

3 Years - 21 Years

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