RECRUITING

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

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

The Seaver Autism Center for Research and Treatment - Assessment Core

Quick Facts

Study Start:2018-05-22
Study Completion:2026-05
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT03718910

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.

Ages Eligible for Study:2 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * Eligible participants must have a documented variant affecting the DDX3X gene that the research team determines to be likely or definitely pathogenic.
  2. * Eligible participants must be at least 2 years of age.
  1. * None

Contacts and Locations

Study Contact

Hailey Silver
CONTACT
212-241-6231
hailey.silver@mssm.edu
Tess Levy
CONTACT
212-241-5290
tess.levy@mssm.edu

Principal Investigator

Dorothy Grice, M.D.
PRINCIPAL_INVESTIGATOR
Icahn School of Medicine at Mount Sinai
Silvia De Rubeis, Ph. D.
PRINCIPAL_INVESTIGATOR
Icahn School of Medicine at Mount Sinai
Alexander Kolevzon, MD
PRINCIPAL_INVESTIGATOR
Icahn School of Medicine at Mount Sinai

Study Locations (Sites)

The Seaver Autism Center for Research and Treatment
New York, New York, 10029
United States

Collaborators and Investigators

Sponsor: Icahn School of Medicine at Mount Sinai

  • Dorothy Grice, M.D., PRINCIPAL_INVESTIGATOR, Icahn School of Medicine at Mount Sinai
  • Silvia De Rubeis, Ph. D., PRINCIPAL_INVESTIGATOR, Icahn School of Medicine at Mount Sinai
  • Alexander Kolevzon, MD, PRINCIPAL_INVESTIGATOR, 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 Registration Dates

Study Start Date2018-05-22
Study Completion Date2026-05

Study Record Updates

Study Start Date2018-05-22
Study Completion Date2026-05

Terms related to this study

Keywords Provided by Researchers

  • DDX3X
  • Intellectual Disability
  • Global Developmental Delay
  • Neurodevelopmental Deficits
  • Developmental Disability

Additional Relevant MeSH Terms

  • DDX3X
  • Mental Retardation, X-linked 102
  • Autism Spectrum Disorder