UnknownNot Applicable

Better Delineation of DDX3X Related Phenotype and Epigenetic Signature.

France10 participantsStarted 2019-11-01

Plain-language 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

Who can participate

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria: \- DDX3X pathogenic Variant Exclusion criteria: * no pathogenic variant in DDX3X * no consent for the study

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Neuropsychological phenotype will be assessed using Wechsler scales

Timeframe: 1 day

Measurement and comparison of the methylation of the cpg sites"

Timeframe: 1 day

Trial details

NCT IDNCT04436588

SponsorUniversity Hospital, Montpellier

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2020-12-01

View on ClinicalTrials.gov More Intellectual Developmental Disorder trials

Plain-language summary