NCT02461446 Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations
| NCT ID | NCT02461446 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Boston Children's Hospital |
| Condition | PTEN |
| Study Type | OBSERVATIONAL |
| Enrollment | 170 participants |
| Start Date | 2015-05 |
| Primary Completion | 2025-12 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 170 participants in total. It began in 2015-05 with a primary completion date of 2025-12.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
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.
Eligibility Criteria
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.
Contact & Investigator
Antonio Hardan, MD
STUDY CHAIR
Stanford University
Frequently Asked Questions
Who can join the NCT02461446 clinical trial?
This trial is open to participants of all sexes, aged 18 Months or older, studying PTEN. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT02461446 currently recruiting?
Yes, NCT02461446 is actively recruiting participants. Contact the research team at Rajna.Filip-Dhima@childrens.harvard.edu for enrollment information.
Where is the NCT02461446 trial being conducted?
This trial is being conducted at Los Angeles, United States, Stanford, United States, Boston, United States, Cincinnati, United States and 1 additional location.
Who is sponsoring the NCT02461446 clinical trial?
NCT02461446 is sponsored by Boston Children's Hospital. The principal investigator is Antonio Hardan, MD at Stanford University. The trial plans to enroll 170 participants.