Actively Recruiting
Led by Boston Children's Hospital · Updated on 2024-10-26
170
Participants Needed
5
Research Sites
52 weeks
Total Duration
B
Boston Children's Hospital
Lead Sponsor
N
National Institutes of Health (NIH)
Collaborating Sponsor
Researchers are studying individuals with autism spectrum disorders (ASD) who have germline heterozygous PTEN mutations, a genetic subgroup that may represent a significant portion of ASD cases. This study aims to compare medical, behavioral, and cognitive differences between PTEN ASD and other groups, and to identify specific cognitive, neural, and molecular biomarkers for PTEN ASD. The research will also create and maintain a biorepository and linked phenotypic database focused on this condition. Participants will include individuals with PTEN ASD, those with macrocephalic ASD without PTEN mutations (macro-ASD), healthy controls, and individuals with PTEN mutations but no ASD (PTEN no-ASD). The study involves three on-site visits over two years, each lasting about 4 to 6 hours. Visits include physical exams, medical history reviews, neuropsychological assessments, and blood draws for lab studies. Children aged 2 to 11 may also participate in an EEG portion. Participants with clinically indicated MRIs can optionally provide scans for analysis. During participation, individuals will undergo various assessments such as changes in verbal abilities, communication, visual perception, working memory, and processing speed at 12 and 24 months. The study also includes physical exams and collection of medical and behavioral data. Participants will be monitored over the two-year period with three visits to track longitudinal changes and biomarkers associated with PTEN ASD. The research is observational and includes healthy volunteers as well.
CONDITIONS
Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations
You may qualify if you...
You will not qualify if you...
Complete this quick 3-step screening to check your eligibility
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - 2 years
Participants attend three on-site visits over two years involving physical exams, medical history questions, neuropsychological assessments, and blood draws. A subset aged 2 to 11 years may undergo EEG assessments, and participants with clinically indicated MRIs may provide routine clinical scans for analysis.
3 visits (in-person) over 2 years
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
R
Rajna Filip-Dhima, MS
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
3
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Thomas W Frazier, Ritika Jaini, Robyn M Busch...
https://pubmed.ncbi.nlm.nih.gov/33509259