RecruitingNCT03718923

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

The Seaver Autism Center for Research and Treatment - Assessment Core


Sponsor

Icahn School of Medicine at Mount Sinai

Enrollment

50 participants

Start Date

Mar 28, 2016

Study Type

OBSERVATIONAL

Conditions

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

Min Age: 2 Years

Inclusion Criteria2

  • 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 Criteria1

  • none

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Locations(1)

The Seaver Autism Center for Research and Treatment

New York, New York, United States

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NCT03718923


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