Actively Recruiting
Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations
Led by Boston Children's Hospital · Updated on 2024-10-26
170
Participants Needed
5
Research Sites
604 weeks
Total Duration
On this page
Sponsors
B
Boston Children's Hospital
Lead Sponsor
N
National Institutes of Health (NIH)
Collaborating Sponsor
AI-Summary
What this Trial Is About
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
Official Title
Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Individuals aged 18 months and older at the time of consent with a clinical diagnosis of autism spectrum disorder and/or a verified PTEN mutation
- Macrocephaly defined as head circumference greater than or equal to the 98th percentile for inclusion in the ASD macrocephaly group
- Consent from parents or legal guardian for youths; consent from self or legal guardian for adults
- Assent from youths able to provide it according to IRB guidelines
- Families may enroll multiple children meeting the criteria, with separate consent for each
- Primary communicative language must be English
You will not qualify if you...
- Unwilling or unable to comply with study procedures and assessments
- Presence of clinically significant medical disease that would prevent participation
- Contraindications to 3T MRI scanning for those eligible for imaging biomarker assessment, including metal implants or incompatible medical devices such as vagus nerve stimulators
- Contraindications to EEG/ERP biomarker assessment including uncooperative or destructive behaviors preventing lead placement or data capture
- Age under 2 or over 11 years at enrollment for participants eligible for EEG/ERP assessments
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 5 locations
1
University of California at Los Angeles
Los Angeles, California, United States, 90095
Actively Recruiting
2
Stanford University Medical Center
Stanford, California, United States, 94305
Actively Recruiting
3
Boston Children's Hospital
Boston, Massachusetts, United States, 02115
Actively Recruiting
4
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, United States, 45229
Actively Recruiting
5
Cleveland Clinic
Cleveland, Ohio, United States, 44195
Actively Recruiting
Research Team
R
Rajna Filip-Dhima, MS
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
3
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