Actively Recruiting
The Seaver Autism Center for Research and Treatment - Assessment Core Characterizing FOXP1-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures
Led by Icahn School of Medicine at Mount Sinai · Updated on 2026-05-28
50
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
Sponsors
I
Icahn School of Medicine at Mount Sinai
Lead Sponsor
T
The Seaver Foundation
Collaborating Sponsor
AI-Summary
What this Trial Is About
FOXP1-related neurodevelopmental disorders involve genetic disruptions that can lead to global developmental delays, speech difficulties, mild facial differences, and autism spectrum traits. This research aims to better understand these disorders by assessing individuals with a FOXP1 gene variant through various genetic, medical, and psychological tests. The study is observational and focuses on characterizing the condition rather than testing treatments. Participants with a likely or confirmed pathogenic FOXP1 gene variant will undergo a range of evaluations over three days. These include developmental and behavioral assessments such as the Autism Diagnostic Observation Schedule (ADOS), parent interviews, psychiatric and neurological exams, and genetic evaluations including physical and vital checks. Both affected individuals and related siblings will also participate in sensory tests like EEG, visual evoked potential, and eye-tracking. Family members attending will be asked to provide blood or saliva samples for genetic research. During the study, participants will complete detailed assessments on the first day, including ADOS, Autism Diagnostic Interview - Revised, intelligence scales, and early learning measures. The research team will collect medical histories, conduct physical exams, and perform sensory and neurological tests. The primary focus is to gather comprehensive data on how FOXP1 variants affect development and behavior. The study does not involve treatment but aims to improve understanding through thorough evaluation and monitoring.
CONDITIONS
Brief Title
FOXP1 Syndrome: The Seaver Autism Center for Research and Treatment is Characterizing FOXP1-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Participants must have a documented FOXP1 gene variant that is likely or definitely pathogenic.
- Participants must be at least 2 years old.
You will not qualify if you...
- none
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Duration - 3 days
Participants complete a series of developmental, behavioral, and medical assessments including evaluations such as the Autism Diagnostic Observation Schedule (ADOS), parent interviews, psychiatric and neurology assessments, and a clinical genetic evaluation.
1 visit over 3 consecutive days (in-person)
Trial Site Locations
Total: 1 location
1
The Seaver Autism Center for Research and Treatment
New York, New York, United States, 10029
Actively Recruiting
Research Team
H
Hailey Silver
T
Tess Levy
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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