FOXP1 Syndrome: The Seaver Autism Center for Research and Treatment is Characterizing FOXP1-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.
Recruiting
Observational Study
FOXP1
Mental Retardation With Language Impairment and With or Without Autistic Features
Autism Spectrum Disorder
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Age
- 2 and older
- Sex
- Any
- Study type
- Observational
- Participants needed
- 50 (estimated)
- Sponsor
- Icahn School of Medicine at Mount Sinai · Other
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About This Trial
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…
Trial Locations
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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
Contacts