RECRUITING

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

Description

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.

Study Overview

Study Details

Study overview

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.

The Seaver Autism Center for Research and Treatment - Assessment Core

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

Condition
FOXP1
Intervention / Treatment

-

Contacts and Locations

New York

The Seaver Autism Center for Research and Treatment, New York, New York, United States, 10029

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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.
  • * none

Ages Eligible for Study

2 Years to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Icahn School of Medicine at Mount Sinai,

Elodie Drapeau, Ph.D., PRINCIPAL_INVESTIGATOR, Icahn School of Medicine at Mount Sinai

Paige Siper, Ph.D., PRINCIPAL_INVESTIGATOR, Icahn School of Medicine at Mount Sinai

Reymundo Lozano, M.D., PRINCIPAL_INVESTIGATOR, Icahn School of Medicine at Mount Sinai

Alexander Kolevzon, MD, PRINCIPAL_INVESTIGATOR, Icahn School of Medicine at Mount Sinai

Study Record Dates

2026-04