Recruiting NCT03718923

FOXP1 Syndrome: The Seaver Autism Center for Research and Treatment is Characterizing FOXP1-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.

Trial Parameters

Condition FOXP1

Sponsor Icahn School of Medicine at Mount Sinai

Study Type OBSERVATIONAL

Phase N/A

Enrollment 50

Sex ALL

Min Age 2 Years

Max Age N/A

Start Date 2016-03-28

Completion 2026-04

All Conditions

FOXP1 Mental Retardation With Language Impairment and With or Without Autistic Features Autism Spectrum Disorder

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.

Eligibility Criteria

Inclusion Criteria: * Eligible participants must have a documented variant affecting the FOXP1 gene that the research team determines to be likely or definitely pathogenic. * Eligible participants must be at least 2 years of age. Exclusion Criteria: * none

Related Trials

NCT03718923

FOXP1 Syndrome: The Seaver Autism Center for Research and Treatment is Characterizing FOXP1-related

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