NCT02461446Active, not recruiting
Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations
Source: ClinicalTrials.gov · Last updated 6 Aug 2026
Brief summary (registry, in English)
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.
- Status (registry)
- Active, not recruiting
- Study type
- Observational
- Enrollment
- 180 (actual)
- First submitted
- 11 May 2015
- Start date
- May 2015
- Primary completion date
- Dec 2025
- Lead sponsor
- Boston Children's Hospital
- Diseases
- Autism, Childhood cancers
- NCT number
- NCT02461446
What you commit to
- Study type: Observational
- Participants enrolled: 180
- From May 2015 to the primary completion date, Dec 2025
- 5 sites in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other illness
- 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.
Age
- 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.
Other
- Unwilling or unable to comply with study procedures and assessments
Who the study is looking for
- 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
Age in the registry: 18 months to - · Sex: All · Accepts healthy volunteers
Sites (5)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Boston Children's Hospital Coordinator of this site? Confirm its status | Boston | United States | Unknown status |
| Cincinnati Children's Hospital Medical Center Coordinator of this site? Confirm its status | Cincinnati | United States | Unknown status |
| Cleveland Clinic Coordinator of this site? Confirm its status | Cleveland | United States | Unknown status |
| University of California at Los Angeles Coordinator of this site? Confirm its status | Los Angeles | United States | Unknown status |
| Stanford University Medical Center Coordinator of this site? Confirm its status | Stanford | United States | Unknown status |
This page is information, not medical advice. Discuss any trial with your doctor.