FOXP1NCT03718923
FOXP1 Syndrome: The Seaver Autism Center for Research and Treatment is Characterizing FOXP1-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.
An observational study of FOXP1 and Mental Retardation With Language Impairment and With or Without Autistic Features, run by Icahn School of Medicine at Mount Sinai at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 2 years and older
- Conditions the study is for
- FOXP1, Mental Retardation With Language Impairment and With or Without Autistic Features, Autism Spectrum Disorder
- How many people
- 50 participants
- Where
- 1 siteUnited States
- Study dates
- 28 Mar 2016to May 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 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.
Who cannot join
- none
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
The Seaver Autism Center for Research and Treatment
New York, New York, 10029
Seaver Autism Center, 212-241-0961, TheSeaverCenter@mssm.edu
About this study
Official title: The Seaver Autism Center for Research and Treatment - Assessment Core
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.
Read the detailed description
Subjects with a variant in the FOXP1 gene will be asked to complete a battery of developmental, behavioral and medical assessments to better characterize gene-related neurodevelopmental deficits. This series of assessments takes place over the course of a three-day period. It includes the Autism Diagnostic Observation Schedule (ADOS), parent interviews regarding developmental history and behavior, a psychiatric evaluation, a neurology assessment, as well as a clinical genetic evaluation that includes a physical and vitals exam. Affected individuals, as well as biologically related siblings, will also undergo a series of sensory assessments, including a research EEG, visual evoked potential, and an eyetracking assessment. Family members present for the visit will also be asked to provide a blood and/or saliva sample for research genetics.
- 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
- Medical subject headings
- Autism Spectrum Disorder, Intellectual Disability, Learning Disabilities, Developmental Disabilities
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Day 1
Secondary outcomes (4)
Autism Diagnostic Interview - Revised (ADI-R)
The ADI-R is a standardized, semi-structured clinical assessment used to diagnose Autism Spectrum Disorder (ASD) in children and adults. The ADI-R is a structured interview administered by an examiner to the primary caregiver of children and adults suspected of having ASD. The assessment contains 93 items, scored from 0 (behavior not present) to 279 (severe or frequent behavior), A higher assessment score indicates poorer outcomes.
Measured: Day 1
Stanford-Binet Intelligence Scales
The Stanford-Binet Intelligence Scales are a cognitive assessment measuring the five factors of fluid reasoning, knowledge, quantitative reasoning, visual-spatial processing and working memory. The number of correct responses for the subtests is converted to a Standard Age Score, based on the chronological age of the individual being assessed. The Area Scores and Test Composite on the Stanford-Binet test have an average score of 100 and a standard deviation of 16. The converted score of the individual being assessed indicates where he/she is relative to the norm. A score exceeding 145 is classified as "Genius or near genius," and scores below 70 are classified as "Borderline deficiency."
Measured: Day 1
Differential Ability Scales (DAS)
The DAS is a battery of cognitive and achievement testing for children 2.5-18 years old that is divided into Early Years and School-Age versions. The 20 subtests of the DAS are broken up into 17 cognitive and 3 achievement subtests. The scores of the test are categorized into i) General Conceptual Ability (GCA) which is based on the ability of the individual being assessed to perform complex mental processing involving transformation of information ii) cluster scores that indicate verbal, spatial and nonverbal reasoning abilities and iii) subtest scores that represent specific abilities or processes. The tests yield t-scores and percentiles by age.
Measured: Day 1
Mullen Scales of Early Learning
The Mullen Scales of Early Learning are a clinical assessment used to measure cognitive ability and motor development in children ages 0-68 months on the five scales of Gross Motor, Visual Reception, Fine Motor, Expressive Language, and Receptive Language. T-scores, percentile rankings, and age equivalents can be calculated for each of these five scales.
Measured: Day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Oct 2018
- Study start28 Mar 2016
- Primary completionMay 2028 (estimated)
- Study completionMay 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for FOXP1Studies of the same condition, open and under way.
- More trials run by Icahn School of Medicine at Mount SinaiThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 50 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Icahn School of Medicine at Mount Sinai
- Sponsor type
- University, hospital or other
- Collaborators
- The Seaver Foundation, Autism Science Foundation, Research Foundation for Mental Hygiene, Inc.
- Responsible party
- Principal investigator, Alexander Kolevzon, Icahn School of Medicine at Mount Sinai
- Investigators
- Elodie Drapeau, Ph.D., Principal investigator, Icahn School of Medicine at Mount SinaiPaige Siper, Ph.D., Principal investigator, Icahn School of Medicine at Mount SinaiReymundo Lozano, M.D., Principal investigator, Icahn School of Medicine at Mount SinaiAlexander Kolevzon, MD, Principal investigator, Icahn School of Medicine at Mount Sinai
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03718923
- Sponsor's protocol ID
- GCO 98-436 - A
- Status last verified
- May 2026
- First submitted
- 23 Oct 2018
- Last updated
- 6 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 6 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Seaver Autism Center for Research and Treatment - Assessment Core
- ClinicalTrials.gov ID
- NCT03718923
- Acronym / sponsor ID
- GCO 98-436 - A
- 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
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- Icahn School of Medicine at Mount SinaiUniversity, hospital or other
- Collaborators
- The Seaver Foundation, Autism Science Foundation, Research Foundation for Mental Hygiene, Inc.
- Study start
- 28 Mar 2016 (actual)
- Primary completion
- May 2028 (estimated)
- Study completion
- May 2028 (estimated)
- First posted
- 25 Oct 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Subjects with a variant in the FOXP1 gene will be asked to complete a battery of developmental, behavioral and medical assessments to better characterize gene-related neurodevelopmental deficits. This series of assessments takes place over the course of a three-day period. It includes the Autism Diagnostic Observation Schedule (ADOS), parent interviews regarding developmental history and behavior, a psychiatric evaluation, a neurology assessment, as well as a clinical genetic evaluation that includes a physical and vitals exam. Affected individuals, as well as biologically related siblings, will also undergo a series of sensory assessments, including a research EEG, visual evoked potential, and an eyetracking assessment. Family members present for the visit will also be asked to provide a blood and/or saliva sample for research genetics.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
Who may qualify
- Ages
- 2 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (2 listed)
- 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.
Key exclusion criteria (1 listed)
- none
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Autism Diagnostic Observation Schedule (ADOS)
Time frame: Day 1
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.
4 secondary outcomes
Autism Diagnostic Interview - Revised (ADI-R)
Time frame: Day 1
Stanford-Binet Intelligence Scales
Time frame: Day 1
Differential Ability Scales (DAS)
Time frame: Day 1
Mullen Scales of Early Learning
Time frame: Day 1
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Oct 2026.
- Individual participant dataSharing planned: No
Related trials for FOXP1
RecruitingObservational study
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
16P11.2 Deletion Syndrome, 16p11.2 Duplications
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
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
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of FOXP1 and Mental Retardation With Language Impairment and With or Without Autistic Features, run by Icahn School of Medicine at Mount Sinai at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 6 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Seaver Autism Center (212-241-0961, TheSeaverCenter@mssm.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Autism Diagnostic Observation Schedule (ADOS) (time frame: Day 1). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Oct 2026.