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

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

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

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.

Detailed Summary:

Autism spectrum disorders (ASD) are a set of neurodevelopmental disorders characterized by social communication/interaction impairments and restricted/repetitive behaviors. ASD associated with germline heterozygous PTEN mutations (PTEN ASD) is a genetically defined sub-group that, may be one of the more prevalent genetic disorders contributing to ASD (0.5-2%). The purpose of this research study is to carefully track the phenotypic and molecular characteristics of PTEN ASD and identify biomarkers for intervention studies.

Individuals with PTEN ASD (ages 3 to 21), with macrocephalic ASD without a PTEN mutation (macro-ASD), healthy controls, and individuals with PTEN mutations without ASD (PTEN no-ASD) will be asked to participate in this study. Both males and females will be asked to participate. Additionally, to be eligible for study participation, individuals' primary communicative language must be English.

The study involves 5 visits (3 on site visits) over the course of two years. Study visits will vary in length from about 4 hours to 6 hours. Study visits involve a physical exam, medical history questions and neuropsychological assessments and a blood draw done for laboratory studies. Individuals who have a clinically indicated MRI will have their scan extended for 15 minutes as part of this study.


Sponsor: Boston Children’s Hospital

Current Primary Outcome:

  • Change in verbal abilities at 12 months [ Time Frame: 12 months ]
    Verbal and non-verbal ability will be evaluated using Stanford Binet -5 or Mullen Scales of Early Learning (MSEL) at 12 months
  • Change in communication ability at 12 months [ Time Frame: 12 months ]
    Communication ability will be evaluated using composite score of the Peabody Picture Vocabulary Test (PPVT-4), Expressive Vocabulary Test (EVT-2), and the Children's Communication Checklist (CCC-2) at 12 months
  • Change in verbal abilities at 24 months [ Time Frame: 24 months ]
    Verbal and non-verbal ability will be evaluated using Stanford Binet 5 or Mullen Scales of Early Learning (MSEL) at 24 months
  • Change in working memory at 12 months [ Time Frame: 12 months ]
    Working memory will be evaluated using the Stanford Binet 5 at 12 months
  • Change in processing speed at 12 months [ Time Frame: 12 months ]
    Processing Speed will be measured using the Processing Speed Index from the Weschler Intelligence Scales at 12 months
  • Change in visual perception at 12 months [ Time Frame: 12 months ]
    Visual perception will be measured using the Beery Developmental Test of Visuomotor Integration (VMI) at 12 months
  • Change in motor functioning at 12 months [ Time Frame: 12 months ]
    Same as current

    Current Secondary Outcome:

    Original Secondary Outcome:

    Information By: Boston Children’s Hospital

    Dates:
    Date Received: May 11, 2015
    Date Started: May 2015
    Date Completion: December 2019
    Last Updated: February 27, 2017
    Last Verified: February 2017