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Can a gene mutation explain Autism's many faces?

NCT ID NCT02461446

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

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing This study
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

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.

Study facts

What this study's own registry entry says, in plain language.

Participants

180 people

The number who actually took part.

Start date

May 2015

Expected to finish

Dec 2026

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

170 patients will be enrolled for this study, over the age of 18 month old.

Ages

18 months and older

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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 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.

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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

More trials for these conditions

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