Observing individuals with autism and PTEN mutations
Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations
This study looks at how autism affects people with certain genetic changes to see what differences there are in their behavior and thinking compared to others.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 170 (estimated) |
| Ages | 18 Months and up |
| Sex | All |
| Sponsor | Boston Children's Hospital Academic / other |
| Locations | 5 sites (Los Angeles, California and 4 other locations) |
| Trial ID | NCT02461446 on ClinicalTrials.gov |
What this trial studies
This observational study aims to explore the medical, behavioral, and cognitive differences in individuals with autism spectrum disorder (ASD) associated with germline heterozygous PTEN mutations. It will track phenotypic and molecular characteristics of PTEN ASD, comparing them with other groups such as macrocephalic ASD and healthy controls. Participants will undergo a series of assessments over two years, including physical exams, neuropsychological evaluations, and blood draws, while a subset will also participate in EEG studies. The study will also create a biorepository and a linked phenotypic database for future research.
Who should consider this trial
Good fit: Ideal candidates include individuals aged 18 months and older with a clinical diagnosis of autism spectrum disorder and/or verified PTEN mutations.
Not a fit: Patients without a diagnosis of autism spectrum disorder or those who do not have a PTEN mutation may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to better understanding and targeted interventions for individuals with PTEN ASD.
How similar studies have performed: Other studies have shown promise in understanding genetic contributions to autism, but this specific focus on PTEN mutations is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
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.
Where this trial is running
Los Angeles, California and 4 other locations
- University of California at Los Angeles — Los Angeles, California, United States (Recruiting)
- Stanford University Medical Center — Stanford, California, United States (Recruiting)
- Boston Children's Hospital — Boston, Massachusetts, United States (Recruiting)
- Cincinnati Children's Hospital Medical Center — Cincinnati, Ohio, United States (Recruiting)
- Cleveland Clinic — Cleveland, Ohio, United States (Recruiting)
Study contacts
- Study coordinator: Rajna Filip-Dhima, MS
- Email: Rajna.Filip-Dhima@childrens.harvard.edu
- Phone: 617-919-7068
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.