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NCT04436588
Better Delineation of DDX3X Related Phenotype and Epigenetic Signature.
trial testing Epigenetic signatures in Intellectual Developmental Disorder in 10 participants. Status unknown.
1 December 2020
Quick facts
| Lead sponsor | University Hospital, Montpellier |
|---|---|
| Status | Status unknown |
| Study type | OBSERVATIONAL |
| Enrollment | 10 |
| Start date | 1 November 2019 |
| Primary completion | 1 December 2020 |
| Estimated completion | 1 December 2020 |
| Sites | 1 location across France |
Drugs / interventions tested
- Epigenetic signatures
Conditions studied
- Intellectual Developmental Disorder — all drugs for Intellectual Developmental Disorder →
- X-LINKED — all drugs for X-LINKED →
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):
-
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
Verify or expand the search:
- PubMed search for NCT04436588
- Europe PMC full search
- ASCO Meeting Library
- ESMO Meeting Library
- bioRxiv preprints
- medRxiv preprints
- Google Scholar
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Verify against primary sources
- ClinicalTrials.gov — authoritative US registry record
- WHO ICTRP — international registry index
- EU Clinical Trials Register
- Sponsor press releases (Google)
- Trial protocol + status: ClinicalTrials.gov NCT04436588 (US National Library of Medicine, public domain)
- Publications: Europe PMC API search by NCT ID, retrieved 10 June 2026
- Drug + disease cross-links: matched in real time against Drug Landscape's normalised drug + company + condition tables
- Sponsor: as reported to ClinicalTrials.gov by University Hospital, Montpellier
- Last refreshed: 18 June 2020
Drug Landscape aggregates and links these public records for informational use only. Always verify against the primary source before clinical or regulatory decisions. Canonical URL: https://druglandscape.com/trial/NCT04436588.
Primary sources · FDA · ClinicalTrials.gov · EMA · SEC EDGAR · ChEMBL · Wikidata · full sourcing