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NCT04436588

Better Delineation of DDX3X Related Phenotype and Epigenetic Signature.

Status unknown Last updated 18 June 2020
What this trial tests

trial testing Epigenetic signatures in Intellectual Developmental Disorder in 10 participants. Status unknown.

Timeline
1 November 2019
Primary endpoint
1 December 2020
1 December 2020

Quick facts

Lead sponsorUniversity Hospital, Montpellier
StatusStatus unknown
Study typeOBSERVATIONAL
Enrollment10
Start date1 November 2019
Primary completion1 December 2020
Estimated completion1 December 2020
Sites1 location across France

Drugs / interventions tested

Conditions studied

Sponsor

University Hospital, Montpellier

Who can join

Eligibility, any sex, with Intellectual Developmental Disorder or X-LINKED. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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

Publications & conference data

1 peer-reviewed publication reference this trial (live from Europe PMC):

  1. Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
    Ruault V, Burger P, Gradels-Hauguel J, Ruiz N, et al · · 2024 · cited 6× · PMID 38284452 · DOI 10.1002/mgg3.2363

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Other trials of Epigenetic signatures

Trials testing the same drug.

Other recruiting trials for Intellectual Developmental Disorder

Currently open trials in the same condition.

Other University Hospital, Montpellier trials

Trials by the same sponsor.

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