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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.

NCT03718910 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 15

Last updated 2026-04-09

No results posted yet for this study

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.

Conditions

Sponsors & Collaborators

Principal Investigators

  • 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

Eligibility

Min Age
2 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2018-05-23
Primary Completion
2020-06-01
Completion
2020-06-01

Countries

  • United States

Study Locations

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Entities

Diseases
Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03718910 on ClinicalTrials.gov