Trials / Completed
CompletedNCT07051213
The Belgian Genome Resource to Resolve Rare Diseases
- Status
- Completed
- Phase
- N/A
- Study type
- Interventional
- Enrollment
- 567 (actual)
- Sponsor
- Universitaire Ziekenhuizen KU Leuven · Academic / Other
- Sex
- All
- Age
- —
- Healthy volunteers
- Not accepted
Summary
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.
Conditions
Interventions
| Type | Name | Description |
|---|---|---|
| DIAGNOSTIC_TEST | Whole exome sequencing | Whole exome sequencing using Illumina short read sequencing |
| DIAGNOSTIC_TEST | Whole genome Sequencing | Whole genome sequencing using Illumina short read sequencing |
Timeline
- Start date
- 2021-06-02
- Primary completion
- 2024-07-05
- Completion
- 2025-01-31
- First posted
- 2025-07-04
- Last updated
- 2025-07-04
Locations
1 site across 1 country: Belgium
Source: ClinicalTrials.gov record NCT07051213. Inclusion in this directory is not an endorsement.