Can a gene mutation explain Autism's many faces?

NCT ID NCT02461446

Ongoing Knowledge-focused Sponsor: Boston Children's Hospital Source: ClinicalTrials.gov ↗

First seen Aug 06, 2026 · Last updated Aug 07, 2026 · Updated 1 time

Summary

This study follows individuals with autism who carry a PTEN gene mutation, along with comparison groups, to track changes in thinking, language, and behavior over time. Researchers will also collect blood samples and medical data to build a large database for future studies. The goal is to identify unique features and biomarkers of PTEN-related autism that could improve diagnosis and personalized care.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

What this could lead to: This research could uncover biological markers that help identify PTEN-related autism earlier and guide future treatments.
What could go wrong: As an observational study, it does not test any treatment, so it cannot directly improve outcomes. Findings may take years to translate into clinical practice.

This is an AI summary of the original study and may miss details. Read our disclaimer.

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Conditions

The condition(s) this trial relates to.

atrial septal defect autism autism spectrum disorder Cowden disease megalencephaly PTEN hamartoma tumor syndrome

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

ASD AUTISM MACROCEPHALY PTEN PTEN HAMARTOMA TUMOR SYNDROME

Contacts and locations

Locations

Boston Children's Hospital

Boston, Massachusetts, 02115, United States
Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, 45229, United States
Cleveland Clinic

Cleveland, Ohio, 44195, United States
Stanford University Medical Center

Stanford, California, 94305, United States
University of California at Los Angeles

Los Angeles, California, 90095, United States

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