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

NCT02461446 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 170

Last updated 2024-10-26

No results posted yet for this study

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.

Conditions

  • PTEN
  • ASD
  • Autism
  • Macrocephaly
  • PTEN Hamartoma Tumor Syndrome

Sponsors & Collaborators

  • National Institutes of Health (NIH)

    collaborator NIH

  • National Institute of Neurological Disorders and Stroke (NINDS)

    collaborator NIH

  • Office of Rare Diseases (ORD)

    collaborator NIH

  • National Center for Advancing Translational Sciences (NCATS)

    collaborator NIH

  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

    collaborator NIH

  • Boston Children's Hospital

    lead OTHER

Principal Investigators

  • Antonio Hardan, MD · Stanford University

Eligibility

Min Age
18 Months
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2015-05-31
Primary Completion
2025-12-31
Completion
2026-12-31

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02461446 on ClinicalTrials.gov