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

Recruiting

• Conditions: PTEN; Autism; Macrocephaly; PTEN Hamartoma Tumor Syndrome; ASD

• Registration Number: NCT02461446
• Lead Sponsor: Boston Children's Hospital

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 Description

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, 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 if they are 18 months and older. 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 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, neuropsychological assessments, and a blood draw done for laboratory studies. A subset of participants between the ages of 2 and 11 years old will take part in the EEG portion of the study. Individuals who have a clinically indicated MRI will have an option to provide routine clinical scans for analysis.

Basic Information
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Recruitment & Eligibility
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Study & Design
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Trial Locations

Study Timeline

• Study Start: 2015-05
• Study First Submitted: 2015-05-11
• Study First Submitted QC: 2015-06-01
• Study First Posted: 2015-06-03
• Status Verified: 2024-10
• Last Update Submitted: 2024-10-24
• Last Update Posted: 2024-10-26
• Primary Completion: 2025-12
• Study Completion: 2026-12

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 170

Inclusion Criteria

Not provided

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Exclusion Criteria

Not provided

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Change in working memory at 24 months	24 months	Working memory will be evaluated using the Stanford Binet 5 at 24 months
Change in communication ability at 12 months	12 months	Communication ability will be evaluated using composite score of the Expressive Vocabulary Test (EVT-2) at 12 months.
Change in visual perception at 24 months	24 months	Visual perception will be measured using the Beery Developmental Test of Visuomotor Integration (VMI) at 24 months
Change in verbal abilities at 24 months	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 visual perception at 12 months	12 months	Visual perception will be measured using the Beery Developmental Test of Visuomotor Integration (VMI) at 12 months
Change in processing speed at 12 months	12 months	Processing Speed will be measured using the Processing Speed Index from the Weschler Intelligence Scales at 12 months
Change in processing speed at 24 months	24 months	Processing Speed will be measured using the Processing Speed Index from the Weschler Intelligence Scales at 24 months
Change in communication ability at 24 months	24 months	Communication ability will be evaluated using composite score of the Expressive Vocabulary Test (EVT-2) at 24 months.
Change in verbal abilities at 12 months	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 working memory at 12 months	12 months	Working memory will be evaluated using the Stanford Binet 5 at 12 months

Trial Locations

Locations (5)

University of California at Los Angeles; 🇺🇸 Los Angeles, California, United States

Stanford University Medical Center; 🇺🇸 Stanford, California, United States

Boston Children's Hospital; 🇺🇸 Boston, Massachusetts, United States

Cincinnati Children's Hospital Medical Center; 🇺🇸 Cincinnati, Ohio, United States

Cleveland Clinic; 🇺🇸 Cleveland, Ohio, United States