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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03718910
Recruitment Status : Recruiting
First Posted : October 25, 2018
Last Update Posted : May 26, 2020
Information provided by (Responsible Party):
Icahn School of Medicine at Mount Sinai

Brief 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.

Condition or disease
DDX3X Mental Retardation, X-linked 102 Autism Spectrum Disorder

Detailed Description:
Subjects with a variant in the DDX3X 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.

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Study Type : Observational
Estimated Enrollment : 10 participants
Observational Model: Cohort
Time Perspective: Cross-Sectional
Official Title: The Seaver Autism Center for Research and Treatment - Assessment Core
Actual Study Start Date : May 22, 2018
Estimated Primary Completion Date : May 2025
Estimated Study Completion Date : May 2025

Primary Outcome Measures :
  1. Autism Diagnostic Observation Schedule (ADOS) [ Time Frame: Day 1 ]
    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.

Secondary Outcome Measures :
  1. Autism Diagnostic Interview - Revised (ADI-R) [ Time Frame: Day 1 ]
    The ADI-R is a standardized, semi-structured clinical assessment used to diagnose Autism Spectrum Disorder (ASD) in children and adults. The ADI-R is a structured interview administered by an examiner to the primary caregiver of children and adults suspected of having ASD. The assessment contains 93 items, scored from 0 (behavior not present) to 279 (severe or frequent behavior), A higher assessment score indicates poorer outcomes.

  2. Stanford-Binet Intelligence Scales [ Time Frame: Day 1 ]
    The Stanford-Binet Intelligence Scales are a cognitive assessment measuring the five factors of fluid reasoning, knowledge, quantitative reasoning, visual-spatial processing and working memory. The number of correct responses for the subtests is converted to a Standard Age Score, based on the chronological age of the individual being assessed. The Area Scores and Test Composite on the Stanford-Binet test have an average score of 100 and a standard deviation of 16. The converted score of the individual being assessed indicates where he/she is relative to the norm. A score exceeding 145 is classified as "Genius or near genius," and scores below 70 are classified as "Borderline deficiency."

  3. Differential Ability Scales (DAS) [ Time Frame: Day 1 ]
    The DAS is a battery of cognitive and achievement testing for children 2.5-18 years old that is divided into Early Years and School-Age versions. The 20 subtests of the DAS are broken up into 17 cognitive and 3 achievement subtests. The scores of the test are categorized into i) General Conceptual Ability (GCA) which is based on the ability of the individual being assessed to perform complex mental processing involving transformation of information ii) cluster scores that indicate verbal, spatial and nonverbal reasoning abilities and iii) subtest scores that represent specific abilities or processes. The tests yield t-scores and percentiles by age.

  4. Mullen Scales of Early Learning [ Time Frame: Day 1 ]
    The Mullen Scales of Early Learning are a clinical assessment used to measure cognitive ability and motor development in children ages 0-68 months on the five scales of Gross Motor, Visual Reception, Fine Motor, Expressive Language, and Receptive Language. T-scores, percentile rankings, and age equivalents can be calculated for each of these five scales.

Biospecimen Retention:   Samples With DNA
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).

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   2 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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 DDX3X gene and meet eligibility requirements.

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03718910

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Contact: Lara Tang, B.A. 212-241-2993
Contact: Tess Levy 212-241-5290

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United States, New York
The Seaver Autism Center for Research and Treatment Recruiting
New York, New York, United States, 10029
Contact: Lara Tang, BA    212-241-2993   
Contact: Samantha Bright, BA    212-241-0961   
Sponsors and Collaborators
Icahn School of Medicine at Mount Sinai
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Principal Investigator: Dorothy Grice, M.D. Icahn School of Medicine at Mount Sinai
Principal Investigator: Silvia De Rubeis, Ph. D. Icahn School of Medicine at Mount Sinai
Principal Investigator: Alexander Kolevzon, MD Icahn School of Medicine at Mount Sinai
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Responsible Party: Icahn School of Medicine at Mount Sinai Identifier: NCT03718910    
Other Study ID Numbers: GCO 98-436 - B
First Posted: October 25, 2018    Key Record Dates
Last Update Posted: May 26, 2020
Last Verified: May 2020

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Icahn School of Medicine at Mount Sinai:
Intellectual Disability
Global Developmental Delay
Neurodevelopmental Deficits
Developmental Disability
Additional relevant MeSH terms:
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Intellectual Disability
Mental Retardation, X-Linked
Autistic Disorder
Autism Spectrum Disorder
Child Development Disorders, Pervasive
Neurodevelopmental Disorders
Mental Disorders
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System