Recruiting

Observational StudyFOXP1 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

Code:

NCT03718923

Conditions

FOXP1

Mental Retardation With Language Impairment and With or Without Autistic Features

Autism Spectrum Disorder

Eligibility Criteria

Sex: All

Age: 2+

Healthy Volunteers: Not accepted

Study Details

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.

Conditions

FOXP1

Mental Retardation With Language Impairment and With or Without Autistic Features

Autism Spectrum Disorder

Study ID

NCT03718923

Start date

Mar 28, 2016

Status verified date

May, 2026

Completion date

May, 2028

Anticipated

Primary completion date

May, 2028

Anticipated

Eligibility Criteria

Sex: All

Age: 2+

Healthy Volunteers: Not accepted

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

Study Design

Enrollment

50 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

Autism Diagnostic Observation Schedule (ADOS) [ Time Frame: Day 1 ]

Central Contacts and Locations

Central contacts

Hailey Silver

(212) 241- 6231 hailey.silver@mssm.edu

Tess Levy

212-241-5290 tess.levy@mssm.edu

Locations

The Seaver Autism Center for Research and Treatment

Recruiting

New York, New York, United States, 10029

Contacts

Bonnie Lerman, B.S.

(212) 241- 2995 bonnie.lerman@mssm.edu

Samantha Bright, B.A.

212-241-0961 samantha.bright@mssm.edu

More Information

Sponsor

Icahn School of Medicine at Mount Sinai

Last update posted

May 28, 2026

Last verified

May, 2026

Keywords

FOXP1
Intellectual Disability
Autism Spectrum Disorder
Global Developmental Delay
Neurodevelopmental Deficits
Developmental Disability

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by Icahn School of Medicine at Mount Sinai on 2026-05-28.