DDX3X Foundation
Cycle 1
DDX3X Syndrome is a rare disease caused by a spontaneous mutation within a DDX3X gene at conception or can be inherited. The syndrome primarily affects girls due to its location on the X-chromosome, though there are some boys it has affected as well. DDX3X Syndrome is linked to intellectual disabilities, seizures, autism, low muscle tone, abnormalities of the brain, and slower physical developments.
Last updated May 2024
Clinical
Disease Class
Rare neurological diseases
Body Systems
Endocrine
Nervous / Sensory
Organs
Brain
Ears
Esophagus
Eyes
Gallbladder
Heart
Intestines
Liver
Lungs
Mouth / teeth
Nose
Pancreas
Stomach
Throat
Genes
DDX3
Type of Inheritance
De novo
X-linked recessive
Disease Mechanism(s)
Unknown
Age of Onset
Prebirth
Incidence
101-1000
Prevalence
101-1000
Symptoms / Phenotypes
abnormal brain features
developmental delay
hypotonia
intellectual disability
livedo reticularis
microcephaly
movement disorders / ataxia / tremor
seizures / epilepsy
speech problems / apraxia
Biomarkers
Diagnostic
· Presence of mutation in the DDX3X gene detected through WES
Existing Therapies
Alternative treatments (eg. nutritional supplements)
· physical therapy, occupational therapy, speech therapy
Organizational & Research
Cell Lines
Fibroblasts
iPSCs
Cell Lines, location
Coriell Institute
University of California San Francisco (UCSF)
University of Tennessee
Cell Lines, share
Yes
Disease Model
Mouse
Zebrafish
Disease Model, location
Duke University
Jackson Laboratories (JAX)
Mt. Sinai
University of Delaware (UDel)
Disease Model, share
Yes
Clinical Trial Role
Not involved
Biobank
Coriell Institute
Center of Excellence
Children’s Hospital of Philadelphia (CHOP)
Rush University
University of California San Francisco (UCSF)
University of Pennsylvania (PENN)
Registry
Yes, we have a registry that we created
Data Collected, Registry
Clinical data
Electronic health records/electronic medical records
Genetic data
Imaging data
Longitudinal natural history data
Medication usage
Patient contact info
Patient-reported data
Data Entered by, Registry
Both
Platform, Registry
Ordinal Data
Natural History Study
Yes, we have a natural history study that we created
Data Collected, Natural History Study
Electronic health records/electronic medical records
Genetic data
Imaging data
Patient-reported outcomes
Prospective data
Platform, Natural History Study
Ordinal Data
REDCap
FDA Patient Listening Session
No
FDA Patient-Focused Drug Development (PFDD) Program
No
ICD Codes
We are working on obtaining an ICD-10 code
Diagnostic Guidelines
Yes
Clinical/Treatment Guidelines
No
Organizational Roles
Executive Director
Science Advisory Board Policies
Yes, willing to share SAB policies
Research Network Policies
Has CRN but no policies
Research Roadmap
Yes we have a Research Roadmap, and will share policies
International Chapters
Asia
Europe
Oceania
South America
International Partners
Europe
Oceania
South America