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Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT02461446
Other study ID # P00013150
Secondary ID 1U54NS092090-01
Status Recruiting
Phase
First received
Last updated
Start date May 2015
Est. completion date December 2026

Study information

Verified date November 2023
Source Boston Children's Hospital
Contact Rajna Filip-Dhima, MS
Phone 617-919-7068
Email Rajna.Filip-Dhima@childrens.harvard.edu
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial 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.


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.


Recruitment information / eligibility

Status Recruiting
Enrollment 170
Est. completion date December 2026
Est. primary completion date December 2025
Accepts healthy volunteers Accepts Healthy Volunteers
Gender All
Age group 18 Months and older
Eligibility 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.

Study Design


Locations

Country Name City State
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 University of California at Los Angeles Los Angeles California
United States Stanford University Medical Center Stanford California

Sponsors (6)

Lead Sponsor Collaborator
Boston Children's Hospital Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Center for Advancing Translational Sciences (NCATS), National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Office of Rare Diseases (ORD)

Country where clinical trial is conducted

United States, 

Outcome

Type Measure Description Time frame Safety issue
Primary Change in verbal abilities at 12 months Verbal and non-verbal ability will be evaluated using Stanford Binet -5 or Mullen Scales of Early Learning (MSEL) at 12 months 12 months
Primary Change in communication ability at 12 months Communication ability will be evaluated using composite score of the Peabody Picture Vocabulary Test (PPVT-4). 12 months
Primary Change in communication ability at 12 months Communication ability will be evaluated using composite score of the Expressive Vocabulary Test (EVT-2) at 12 months. 12 months
Primary Change in verbal abilities at 24 months Verbal and non-verbal ability will be evaluated using Stanford Binet 5 or Mullen Scales of Early Learning (MSEL) at 24 months 24 months
Primary Change in visual perception at 12 months Visual perception will be measured using the Beery Developmental Test of Visuomotor Integration (VMI) at 12 months 12 months
Primary Change in working memory at 12 months Working memory will be evaluated using the Stanford Binet 5 at 12 months 12 months
Primary Change in processing speed at 12 months Processing Speed will be measured using the Processing Speed Index from the Weschler Intelligence Scales at 12 months 12 months
Primary Change in working memory at 24 months Working memory will be evaluated using the Stanford Binet 5 at 24 months 24 months
Primary Change in processing speed at 24 months Processing Speed will be measured using the Processing Speed Index from the Weschler Intelligence Scales at 24 months 24 months
Primary Change in visual perception at 24 months Visual perception will be measured using the Beery Developmental Test of Visuomotor Integration (VMI) at 24 months 24 months
Primary Change in communication ability at 24 months Communication ability will be evaluated using composite score of the Peabody Picture Vocabulary Test (PPVT-4) at 24 months 24 months
Primary Change in communication ability at 24 months Communication ability will be evaluated using composite score of the Expressive Vocabulary Test (EVT-2) at 24 months. 24 months
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