DDX3X Syndrome -The Seaver Autism Center for Research and Treatment is Characterizing DDX3X-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.
Completed
Conditions studied: DDX3X, Mental Retardation, X-linked 102, Autism Spectrum Disorder
In brief
DDX3X syndrome is a genetic cause of intellectual disability and other neurologic features including, in some cases, autism. Variants in the DDX3X gene are thought to account for 1-3% of unexplained intellectual disability in females, making it one of the more common causes of intellectual disability.This study seeks to characterize DDX3X-related neurodevelopmental disorders using a number of genetic, medical and neuropsychological measures.
Key facts
- Study ID
- NCT03718910
- Run by
- Icahn School of Medicine at Mount Sinai
- People needed
- 15
- Starts
- 2018-05-23
- Expected to finish
- 2020-06-01
- Last updated by the study team
- 2026-04-09
Who can join
Age: 2 and older. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- Eligible participants must have a documented variant affecting the DDX3X 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
Where it is running
- The Seaver Autism Center for Research and Treatment — New York, New York, United States
Full record on ClinicalTrials.gov
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