Clinical trial NCT03718923: FOXP1 Syndrome: The Seaver Autism Center for Research and Treatment is Characterizing FOXP1-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.
Official title: The Seaver Autism Center for Research and Treatment - Assessment Core
Study type: OBSERVATIONAL
Overall status: RECRUITING
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
Lead sponsor: Icahn School of Medicine at Mount Sinai
Sponsor class: OTHER
Collaborators: name: The Seaver Foundation
name: Autism Science Foundation
name: Research Foundation for Mental Hygiene, Inc.
First posted: 2018-10-25
Enrollment: 50
Sex: ALL
Minimum age (years): 2
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: CROSS_SECTIONAL
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.

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.

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.

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

Primary outcomes:
measure: Autism Diagnostic Observation Schedule (ADOS)
timeFrame: Day 1
Secondary outcomes:
measure: Autism Diagnostic Interview - Revised (ADI-R)
timeFrame: Day 1
measure: Stanford-Binet Intelligence Scales
timeFrame: Day 1
measure: Differential Ability Scales (DAS)
timeFrame: Day 1
measure: Mullen Scales of Early Learning
timeFrame: Day 1
Other outcomes:
Locations:
city: New York
country: United States
facility: The Seaver Autism Center for Research and Treatment
state: New York
Study officials:
affiliation: Icahn School of Medicine at Mount Sinai
name: Elodie Drapeau, Ph.D.
role: PRINCIPAL_INVESTIGATOR
affiliation: Icahn School of Medicine at Mount Sinai
name: Paige Siper, Ph.D.
role: PRINCIPAL_INVESTIGATOR
affiliation: Icahn School of Medicine at Mount Sinai
name: Reymundo Lozano, M.D.
role: PRINCIPAL_INVESTIGATOR
affiliation: Icahn School of Medicine at Mount Sinai
name: Alexander Kolevzon, MD
role: PRINCIPAL_INVESTIGATOR
References: