- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT03718910
DDX3X Syndrome -The Seaver Autism Center for Research and Treatment is Characterizing DDX3X-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.
June 28, 2023 updated by: Alexander Kolevzon, Icahn School of Medicine at Mount Sinai
The Seaver Autism Center for Research and Treatment - Assessment Core
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.
Study Overview
Status
Recruiting
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.
Study Type
Observational
Enrollment (Estimated)
10
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Contact
- Name: Hailey Silver
- Phone Number: 212-241-6231
- Email: hailey.silver@mssm.edu
Study Contact Backup
- Name: Tess Levy
- Phone Number: 212-241-5290
- Email: tess.levy@mssm.edu
Study Locations
-
-
New York
-
New York, New York, United States, 10029
- Recruiting
- The Seaver Autism Center for Research and Treatment
-
Contact:
- Hailey Silver
- Phone Number: 212-241-6231
- Email: hailey.silver@mssm.edu
-
Contact:
- Samantha Bright, BA
- Phone Number: 212-241-0961
- Email: samantha.bright@mssm.edu
-
-
Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
Eligibility Criteria
Ages Eligible for Study
2 years and older (Child, Adult, Older Adult)
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.
Description
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
Study Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
- Observational Models: Cohort
- Time Perspectives: Cross-Sectional
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
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.
|
Day 1
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
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.
|
Day 1
|
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."
|
Day 1
|
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.
|
Day 1
|
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.
|
Day 1
|
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Investigators
- 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
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Major Dates
Study Start (Actual)
May 22, 2018
Primary Completion (Estimated)
June 1, 2025
Study Completion (Estimated)
June 1, 2025
Study Registration Dates
First Submitted
October 23, 2018
First Submitted That Met QC Criteria
October 23, 2018
First Posted (Actual)
October 25, 2018
Study Record Updates
Last Update Posted (Actual)
June 29, 2023
Last Update Submitted That Met QC Criteria
June 28, 2023
Last Verified
June 1, 2023
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
- Mental Disorders
- Nervous System Diseases
- Neurologic Manifestations
- Neurobehavioral Manifestations
- Genetic Diseases, Inborn
- Genetic Diseases, X-Linked
- Heredodegenerative Disorders, Nervous System
- Neurodevelopmental Disorders
- Child Development Disorders, Pervasive
- Autistic Disorder
- Autism Spectrum Disorder
- Intellectual Disability
- Mental Retardation, X-Linked
Other Study ID Numbers
- GCO 98-436 - B
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
No
Studies a U.S. FDA-regulated device product
No
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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