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

This study is looking at individuals with Autism Spectrum Disorder (ASD) and/or a specific genetic change called a PTEN mutation. The goal is to understand the medical, behavioral, and thinking differences between people with PTEN-related ASD and other groups. Researchers also want to find specific markers in the body (biomarkers) that are unique to PTEN-related ASD. This study is not testing a new treatment, but rather observing how these conditions develop over time. To join, you must be at least 18 months old and have a diagnosis of ASD or a confirmed PTEN mutation. The study aims to enroll 170 participants and is looking for changes in verbal and communication abilities after 12 months.

Study design
This is an observational study, meaning it tracks participants over time without providing any specific intervention. It plans to include 170 participants.
What's involved
You would have 3 in-person visits over two years, each lasting about 4 to 6 hours. These visits include a physical exam, medical history questions, thinking and memory tests, and a blood draw.
Compensation
Not stated in the trial record.
Follow-up
The study measures changes in abilities at 12 months, indicating follow-up for at least that duration.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT02461446

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

Active, Not Recruiting
Not specifiedAges 18+Observational
Boston Children's Hospital
~180 participants
Updated 2026-08-06 on ClinicalTrials.gov

At a glance

Recruiting sites
0 of 5 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Change in verbal abilities at 12 months
Measured over 12 months
+11 more outcomes measured

Conditions

PTEN
ASD
Autism
Macrocephaly
PTEN Hamartoma Tumor Syndrome

Explore related trials

Autism Spectrum DisorderMacrocephalyPTEN Hamartoma Tumor SyndromePTEN Gene

Where it's being run

5 sites across 3 states
California2
Ohio2
Massachusetts1

Study leadership

  • Antonio Hardan, MD · STUDY_CHAIR · Stanford University

Who to contact

This trial hasn't published a contact. View it on ClinicalTrials.gov

Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

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.
Primary communicative language must be English

Exclusion

Unwilling or unable to comply with study procedures and assessments
Clinically significant medical disease that would prohibit participation in the study procedures.
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.

What this trial measures

  • Change in verbal abilities at 12 months12 months

    Verbal and non-verbal ability will be evaluated using Stanford Binet -5 or Mullen Scales of Early Learning (MSEL) at 12 months

  • Change in communication ability at 12 months12 months

    Communication ability will be evaluated using composite score of the Peabody Picture Vocabulary Test (PPVT-4).

  • Change in communication ability at 12 months12 months

    Communication ability will be evaluated using composite score of the Expressive Vocabulary Test (EVT-2) at 12 months.

  • Change in verbal abilities at 24 months24 months

    Verbal and non-verbal ability will be evaluated using Stanford Binet 5 or Mullen Scales of Early Learning (MSEL) at 24 months

  • Change in visual perception at 12 months12 months

    Visual perception will be measured using the Beery Developmental Test of Visuomotor Integration (VMI) at 12 months

  • Change in working memory at 12 months12 months

    Working memory will be evaluated using the Stanford Binet 5 at 12 months

  • Change in processing speed at 12 months12 months

    Processing Speed will be measured using the Processing Speed Index from the Weschler Intelligence Scales at 12 months

  • Change in working memory at 24 months24 months

    Working memory will be evaluated using the Stanford Binet 5 at 24 months

  • Change in processing speed at 24 months24 months

    Processing Speed will be measured using the Processing Speed Index from the Weschler Intelligence Scales at 24 months

  • Change in visual perception at 24 months24 months

    Visual perception will be measured using the Beery Developmental Test of Visuomotor Integration (VMI) at 24 months

  • Change in communication ability at 24 months24 months

    Communication ability will be evaluated using composite score of the Peabody Picture Vocabulary Test (PPVT-4) at 24 months

  • Change in communication ability at 24 months24 months

    Communication ability will be evaluated using composite score of the Expressive Vocabulary Test (EVT-2) at 24 months.