Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations
NCT ID: NCT02461446
Last Updated: 2024-10-26
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
170 participants
OBSERVATIONAL
2015-05-31
2026-12-31
Brief Summary
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Detailed Description
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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.
Conditions
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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PTEN ASD
PTEN participants with Autism Spectrum Disorder group
No interventions assigned to this group
PTEN no ASD
PTEN participants without Autism Spectrum Disorder group
No interventions assigned to this group
Controls
Healthy control group
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
* 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.
* Primary communicative language must be English
Exclusion Criteria
* 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.
18 Months
ALL
Yes
Sponsors
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National Institutes of Health (NIH)
NIH
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Office of Rare Diseases (ORD)
NIH
National Center for Advancing Translational Sciences (NCATS)
NIH
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Boston Children's Hospital
OTHER
Responsible Party
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Mustafa Sahin
Professor of Neurology, Harvard Medical School
Principal Investigators
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Antonio Hardan, MD
Role: STUDY_CHAIR
Stanford University
Locations
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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
Countries
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Central Contacts
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Facility Contacts
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References
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Frazier TW, Jaini R, Busch RM, Wolf M, Sadler T, Klaas P, Hardan AY, Martinez-Agosto JA, Sahin M, Eng C; Developmental Synaptopathies Consortium. Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism. Mol Autism. 2021 Jan 28;12(1):5. doi: 10.1186/s13229-020-00406-6.
Other Identifiers
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P00013150
Identifier Type: -
Identifier Source: org_study_id
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