Autism Clinical Trial
Official title:
Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations
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.
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. |
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 |
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) |
United States,
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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