An interventional study of Whole exome sequencing and Whole genome Sequencing in Intellectual Developmental Disorder, Malformations and Dysmorphia, sponsored by Universitaire Ziekenhuizen KU Leuven. Completed at 1 site in Belgium. Per ClinicalTrials.gov, last updated 2025-07-04.
Sponsored by Universitaire Ziekenhuizen KU Leuven · Not applicable, Interventional, and Diagnostic
Whole-exome (WES) or whole-genome sequencing (WGS) are recommended as first- or second-tier molecular tests for patients with developmental disorders (DD), but the clinical utility of WGS continues to be debated. This prospective randomized trial involving all Belgian Human Genetics centers compares the standard of care (SoC) - combining WES and microarray or shallow WGS - with WGS for 567 individuals with unexplained DD. The aim of the project is to pave the way towards diagnostic implementation of WGS for rare DD in Belgium. To reach this aim, (1) technical validation is performed at different genetic centres in Belgium, (2) clinical utility of WGS is explored and (3) the health economic impact is mapped.
363 studies on the registry are indexed under Intellectual Disability; 103 are open to participants now.
This study's enrollment of 567 is above the median of 53 across 236 interventional studies indexed under Intellectual Disability.
Browse Intellectual Disability studies →Universitaire Ziekenhuizen KU Leuven is the lead sponsor of 928 studies on the registry; 261 are open to participants now.
Of its 5 completed or terminated interventional studies of FDA-regulated products, 0 (0%) have results posted.
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Exclusion Criteria:
Standard of care consisting of a combination of a chromosomal microarray or shallow whole genome sequencing (standard of care copy number variant analysis in the concerned genetic center) with whole exome sequencing.
Diagnostic Test: Whole exome sequencing
Whole genome sequencing (primary analysis using a similar pipeline as the one used for whole exome sequencing - re-analysis using Emedgene to detect potential repeat expansions, structural and/or intronic variants)
Diagnostic Test: Whole genome Sequencing
Whole exome sequencing using Illumina short read sequencing
Whole genome sequencing using Illumina short read sequencing
Whole genome sequencing (WGS) performance compared to Whole exome sequencing (WES) performance
The primary outcome measure is to determine whether whole genome sequencing is able to improve the diagnostic yield of next-generation sequencing for developmental disorders.
Time frame: From enrollment to reporting the results of the analysis : target turn around time of 6 months
Plan to share: Yes — The raw sequencing data generated during this study will be shared on the European Genome-phenome Archive (EGA).
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This study is completed, as verified in Jun 2025. You cannot join it, but the record below documents what was studied.
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Universitaire Ziekenhuizen KU Leuven