Clinical Trial

Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations

Active, Not Recruiting
View on ClinicalTrials.gov →
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.
Protocol Amendment History 1 change
critical Enrollment closed, study ongoing 2026-08-07
Trial Details
NCT Number NCT02461446
Lead Sponsor Boston Children's Hospital
Collaborators: National Institutes of Health (NIH), National Institute of Neurological Disorders and Stroke (NINDS), Office of Rare Diseases (ORD), National Center for Advancing Translational Sciences (NCATS), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Conditions PTEN, ASD, Autism, Macrocephaly, PTEN Hamartoma Tumor Syndrome
Enrollment 180 participants
Start Date 2015-05
Primary Completion 2025-12 (estimated)
Study Completion 2026-12 (estimated)
Updated on ClinicalTrials.gov 2026-08-06