Better Delineation of DDX3X Related Phenotype and Epigenetic Signature.

NCT04436588 | Unknown

• 1 other identifier: RECHMPL20_0353
• Study Type: observational
• Target: 10
• Locations: 1 country
• Sites: 1

Brief Summary

DDX3X related disorder is mainly characterised by developmental delay (DD) and intellectual disability (ID), ranging from mild to severe, and neuroimaging abnormalities. The aims of this study are first to better delineate the clinical phenotype, as well as the neuropsychological profile and, second, to study the epigenetic signature in a cohort of individuals with DDX3X pathogenic variants. This work will conduct to a MD thesis of a clinical resident geneticist in France. Physician that will participate will fill an Excel sheet regarding the clinical and neuropsychological assessment. The investigators will be also happy to have a DNA sample with a minimum 0.5ug of peripheral blood genomic DNA. The investigators will gather the DNA in Montpellier genetic lab (Dr Mouna BARAT) and send the batch to the Dr Sadikovic' lab. Between 2018 and 2020, the investigators have already recruited data from individuals with DDX3X pathogenic variants from several European and Asian genetic centres

Conditions

Intellectual Developmental Disorder; X-LINKED

Keywords

DDX3X; Syndromic; SNIJDERS BLOK

Outcome Measures

Primary Outcomes (2)

• Neuropsychological phenotype will be assessed using Wechsler scales

  DDX3X related clinical and neuropsychological phenotype. Neuropsychological phenotype will be assessed using Wechsler scales. The phenotype of individuals will be assessed using a questionnaire sent to their geneticist

  1 day

• Measurement and comparison of the methylation of the cpg sites"

  Epigenetic signature will be investigated by measurement and comparison of the methylation of the cpg sites

  1 day

Study Arms (1)

DDX3X

DDX3X

Genetic: Epigenetic signatures

Interventions

Epigenetic signatures GENETIC

Epigenetic signatures (Dr Sadikovic' lab, London, Ontario, Canada)

DDX3X

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals with DDX3X pathogenic Variant

You may qualify if:

• \- DDX3X pathogenic Variant

You may not qualify if:

• no pathogenic variant in DDX3X
• no consent for the study

Sponsors & Collaborators

• University Hospital, Montpellier: lead
• Association Xtraordinaire sub-group DDX3X: collaborator
• Genida: collaborator

Study Sites (1)

UH Montpellier

Montpellier, 34295, France

Location

MeSH Terms

Conditions

Intellectual Disability

Condition Hierarchy (Ancestors)

Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Neurodevelopmental Disorders; Mental Disorders

Study Officials

• David GENEVIEVE

  Department of Medical Genetics

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 10, 2020
• First Posted: June 18, 2020
• Study Start: November 1, 2019
• Primary Completion: December 1, 2020
• Study Completion: December 1, 2020
• Last Updated: June 18, 2020

Record last verified: 2020-06

Locations

FR (1)