Plain-English translation of NCT02461446 on ClinicalTrials.gov ↗ · Source last updated · Translation generated · How we translate trials
This is a long-term observation study that carefully tracks people who have both autism spectrum disorder and a PTEN gene mutation — a genetic change that may be responsible for autism in about 0.5 to 2% of cases. Researchers want to understand how this condition affects people over time and identify biological markers that could help guide future treatments. There is no medication being tested; instead, you would visit the research center three times over two years for physical exams, health questions, brain testing, blood work, and possibly brain imaging or brain activity monitoring.
Autism caused by PTEN gene changes appears to be one of the more common genetic forms of autism, but scientists still don't fully understand how it develops or what signs show up over time. This study aims to fill that gap so that doctors can eventually develop better ways to help people with this specific type of autism.
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You would visit the research center at Boston Children's Hospital three times over the course of two years, with each visit lasting about 4 to 6 hours. During these visits, you would have a physical exam, answer questions about your medical history, complete brain and thinking assessments, and give a blood sample for lab work. If you are between 2 and 11 years old, you may also have sensors placed on your head to measure brain activity. If you've had an MRI scan ordered by your doctor for other reasons, you can choose to let researchers use that scan for the study.
AI-generated summary from trial data · Jun 8, 2026 · Not medical advice
United States
Sponsor
Boston Children's Hospital
Collaborators
National Institutes of Health (NIH), National Institute of Neurological Disorders and Stroke (NINDS)
Enrollment target
~170 participants
Started
May 2015
Primary completion
December 2025
This trial's estimated completion date has passed — the record may not be fully up to date.
Age range
18 Months and older
Last updated on clinicaltrials.gov in October 2024.
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Central contact
Rajna Filip-Dhima, MS
Stanford University
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