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

RecruitingObservational study

The Seaver Autism Center for Research and Treatment - Assessment Core

Who can join

Ages 2 and older · All sexes

Full 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

About the study

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.

Sponsor: Icahn School of Medicine at Mount Sinai · Participants: 50 · Started: Mar 28, 2016

Contact the study team

Official record on ClinicalTrials.gov — NCT03718923

Locations in the U.S.

New YorkThe Seaver Autism Center for Research and Treatment, New York

Conditions

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.