Status:
UNKNOWN
Better Delineation of DDX3X Related Phenotype and Epigenetic Signature.
Lead Sponsor:
University Hospital, Montpellier
Collaborating Sponsors:
Association Xtraordinaire sub-group DDX3X
Genida
Conditions:
Intellectual Developmental Disorder
X-LINKED
Eligibility:
All Genders
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 fi...
Detailed Description
The investigators aim to better understand and delineate the genetic syndrome DDX3X. This genetic disorder was described in 2015 by Lot Snijders Blok et al. (DOI https://doi.org/10.1016/j.ajhg.2015.0...
Eligibility Criteria
Inclusion
- Inclusion criteria:
- \- DDX3X pathogenic Variant
- Exclusion criteria:
- no pathogenic variant in DDX3X
- no consent for the study
Exclusion
Key Trial Info
Start Date :
November 1 2019
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
December 1 2020
Estimated Enrollment :
10 Patients enrolled
Trial Details
Trial ID
NCT04436588
Start Date
November 1 2019
End Date
December 1 2020
Last Update
June 18 2020
Active Locations (1)
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1
UH Montpellier
Montpellier, France, 34295