CompletedNot Applicable

DDX3X Syndrome -The Seaver Autism Center for Research and Treatment is Characterizing DDX3X-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.

United States15 participantsStarted 2018-05-23

Plain-language summary

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.

Who can participate

Age range2 Years

SexALL

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Inclusion Criteria: * 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. Exclusion Criteria: * None

What they're measuring

Autism Diagnostic Observation Schedule (ADOS)

Timeframe: Day 1

Trial details

NCT IDNCT03718910

SponsorIcahn School of Medicine at Mount Sinai

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2020-06-01

View on ClinicalTrials.gov More DDX3X trials