Characterizing DDX3X-related neurodevelopmental disorders
The Seaver Autism Center for Research and Treatment - Assessment Core
This study looks at people with a change in the DDX3X gene to see how it affects their development and behavior, especially in relation to autism and intellectual disability.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 10 (estimated) |
| Ages | 2 Years and up |
| Sex | All |
| Sponsor | Icahn School of Medicine at Mount Sinai Academic / other |
| Locations | 1 site (New York, New York) |
| Trial ID | NCT03718910 on ClinicalTrials.gov |
What this trial studies
This study focuses on individuals with a variant in the DDX3X gene, which is linked to intellectual disability and autism. Participants will undergo a series of developmental, behavioral, and medical assessments over three days, including the Autism Diagnostic Observation Schedule (ADOS) and various sensory evaluations. The goal is to better understand the neurodevelopmental deficits associated with DDX3X variants through comprehensive genetic and clinical evaluations.
Who should consider this trial
Good fit: Ideal candidates are individuals aged 2 years and older with a documented pathogenic variant in the DDX3X gene.
Not a fit: Patients without a DDX3X gene variant or those under 2 years of age may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of DDX3X-related neurodevelopmental disorders.
How similar studies have performed: Other studies have shown success in characterizing genetic causes of neurodevelopmental disorders, making this approach promising.
Eligibility criteria
Show full inclusion / exclusion criteria
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
Where this trial is running
New York, New York
- The Seaver Autism Center for Research and Treatment — New York, New York, United States (Recruiting)
Study contacts
- Principal investigator: Dorothy Grice, M.D. — Icahn School of Medicine at Mount Sinai
- Study coordinator: Hailey Silver
- Email: hailey.silver@mssm.edu
- Phone: 212-241-6231
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.