Ignite Creation Date:
2024-05-06 @ 12:15 PM
Last Modification Date:
2024-10-26 @ 12:56 PM
Study NCT ID:
NCT03718923
Status:
RECRUITING
Last Update Posted:
2024-04-02
First Post:
2018-10-23
Brief Title:
FOXP1 Syndrome The Seaver Autism Center for Research and Treatment is Characterizing FOXP1-related Neurodevelopmental Disorders Using Genetic Medical and Neuropsychological Measures
Sponsor:
Icahn School of Medicine at Mount Sinai
Organization:
Icahn School of Medicine at Mount Sinai
Study Overview
Official Title:
The Seaver Autism Center for Research and Treatment - Assessment Core
Status:
RECRUITING
Status Verified Date:
2024-04
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
FOXP1 also known as Forkhead-box Protein P1 is a transcription factor protein belonging to the FOX gene family Disruptions in the FOXP1 gene cause a phenotype characterized by global developmental delay speech deficits mild dysmorphic features and traits of autism spectrum disorder This study seeks to characterize FOXP1-related neurodevelopmental disorders using a number of genetic medical and neuropsychological measures
Detailed Description:
Subjects with a variant in the FOXP1 gene will be asked to complete a battery of developmental behavioral and medical assessments to better characterize gene-related neurodevelopmental deficits This series of assessments takes place over the course of a three-day period It includes the Autism Diagnostic Observation Schedule ADOS parent interviews regarding developmental history and behavior a psychiatric evaluation a neurology assessment as well as a clinical genetic evaluation that includes a physical and vitals exam Affected individuals as well as biologically related siblings will also undergo a series of sensory assessments including a research EEG visual evoked potential and an eyetracking assessment Family members present for the visit will also be asked to provide a blood andor saliva sample for research genetics
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None