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

NCT03718923 | Recruiting

• 1 other identifier: GCO 98-436 - A
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 1

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

Keywords

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

Outcome Measures

Primary Outcomes (1)

• Autism Diagnostic Observation Schedule (ADOS)

  The ADOS is a structured, play-based assessment of communication, social interaction and behavior in individuals (children and adults) suspected of having a diagnosis of Autism Spectrum Disorder. The examiner will select 1 of 4 different ADOS modules, which differ based on chronological age and verbal fluency, to use for the individual being assessed. An Overall Total score \>= 16, if the individual meets for the "few to no words" algorithm, or 12, if the individual meets for the "some words" algorithm, suggests autism in the individual. An Overall Total score of 11 to 15, if the individual meets for the "few to no words" algorithm, or 8 to 11, if the individual meets for the "some words" algorithm, suggests the individual is on the autism spectrum. An Overall Total score equal to or lower than 10, if the individual meets for "few to no words" algorithm, or 7, if the individual meets for the "some words" algorithm, classifies the individual as "non-spectrum" or not on the spectrum.

  Day 1

Secondary Outcomes (4)

• Autism Diagnostic Interview - Revised (ADI-R)

  Day 1

• Stanford-Binet Intelligence Scales

  Day 1

• Differential Ability Scales (DAS)

  Day 1

• Mullen Scales of Early Learning

  Day 1

Eligibility Criteria

• Age: 2 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals for this cohort study will be selected from any population, provided that they have a variant in the FOXP1 gene and meet eligibility requirements.

You may qualify if:

• 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.

You may not qualify if:

• none

Sponsors & Collaborators

• Icahn School of Medicine at Mount Sinai: lead
• The Seaver Foundation: collaborator
• Autism Science Foundation: collaborator
• Research Foundation for Mental Hygiene, Inc.: collaborator

Study Sites (1)

The Seaver Autism Center for Research and Treatment

New York, New York, 10029, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Whole blood and/or saliva samples from research participants who consent to giving biological specimens for research genetics may be retained with potential for extraction of DNA. Blood samples may be used to create Induced Pluripotent Stem Cells (iPSCs).

MeSH Terms

Conditions

Autism Spectrum Disorder; Intellectual Disability; Learning Disabilities; Developmental Disabilities

Condition Hierarchy (Ancestors)

Child Development Disorders, Pervasive; Neurodevelopmental Disorders; Mental Disorders; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Communication Disorders

Study Officials

• Elodie Drapeau, Ph.D.

  Icahn School of Medicine at Mount Sinai

  PRINCIPAL INVESTIGATOR

• Paige Siper, Ph.D.

  Icahn School of Medicine at Mount Sinai

  PRINCIPAL INVESTIGATOR

• Reymundo Lozano, M.D.

  Icahn School of Medicine at Mount Sinai

  PRINCIPAL INVESTIGATOR

• Alexander Kolevzon, MD

  Icahn School of Medicine at Mount Sinai

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Hailey Silver

CONTACT

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

Tess Levy

CONTACT

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

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Clinical Director of the Seaver Autism Center for Research and Treatment, Professor of Psychiatry and Pediatrics and Director of Child and Adolescent Psychiatry

Study Record Dates

• First Submitted: October 23, 2018
• First Posted: October 25, 2018
• Study Start: March 28, 2016
• Primary Completion: April 1, 2026
• Study Completion: April 1, 2026
• Last Updated: April 9, 2025

Record last verified: 2025-04

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)