The Seaver Autism Center for Research and Treatment - Assessment Core
Sponsor study identifier
observational
15
1 country
1
Study Start
May 23, 2018
Actual (reported)Primary Completion
June 1, 2020
Actual (reported)Study Completion
June 1, 2020
Actual (reported)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.
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
June 1, 2020
Actual (reported)Click on a node to explore related trials.
Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
May 23, 2018
Actual (reported)October 23, 2018
Actual (reported)October 25, 2018
Actual (reported)June 1, 2020
Actual (reported)June 1, 2020
Actual (reported)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.
Day 1
Autism Diagnostic Interview - Revised (ADI-R)
Day 1
Individuals for this cohort study will be selected from any population, provided that they have a variant in the DDX3X gene and meet eligibility requirements.
The Seaver Autism Center for Research and Treatment
New York, New York, 10029, United States
Whole blood and/or saliva samples from research participants who consent to giving biological specimens for research genetics may be retained with potential for extraction of DNA. Blood samples may be used to create Induced Pluripotent Stem Cells (iPSCs).
Dorothy Grice, M.D.
Icahn School of Medicine at Mount Sinai
Silvia De Rubeis, Ph. D.
Icahn School of Medicine at Mount Sinai
Alexander Kolevzon, MD
Icahn School of Medicine at Mount Sinai
15 participants (actual enrollment reported by the registry).
First Submitted
October 23, 2018
First Posted
October 25, 2018
Study Start
May 23, 2018
Actual (reported)Stanford-Binet Intelligence Scales
Day 1
Differential Ability Scales (DAS)
Day 1
Mullen Scales of Early Learning
Day 1
Contact the study team to confirm eligibility.
Primary Completion
June 1, 2020
Actual (reported)Study Completion
June 1, 2020
Actual (reported)Last Updated
April 9, 2026
Record last verified: 2026-04
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Source: ClinicalTrials.gov.
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