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The Belgian Genome Resource to Resolve Rare Diseases | Clinical Trials | Clareo Health

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The Belgian Genome Resource to Resolve Rare Diseases

NCT07051213•Universitaire Ziekenhuizen KU Leuven

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.

Eligibility

Age

All ages

Sex

ALL

Healthy Volunteers

Inclusion Criteria

•Intellectual disability/Developmental delay (moderate to profound)
•Intellectual disability/Developmental delay (mild to moderate) AND family recurrence AND normal parents
•Intellectual disability/Developmental delay (mild to moderate) AND dysmorphism (≥3 well documented minor signs)
•One major malformation AND dysmorphism (≥3 well documented minor signs)
•Multiple major malformations in 2 or more different organ systems.

Exclusion Criteria

•Suspicion of an acquired cause, e.g. congenital infection and prenatal toxic exposure
•Prior next-generation sequencing of a gene panel targeting multiple conditions or prior exome analyses

Locations (1)

KU Leuven

Leuven, Belgium

Key Dates

Start Date

June 2, 2021

Primary Completion Date

July 5, 2024

Completion Date

January 31, 2025

Last Updated

July 4, 2025

Enrollment

567

ACTUAL participants

Conditions

Intellectual Developmental DisorderMalformationsDysmorphiaDevelopmental Delay (Disorder)

Interventions

Whole exome sequencing

DIAGNOSTIC_TEST

Whole genome Sequencing

DIAGNOSTIC_TEST

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Data Source & Attribution

This clinical trial information is sourced from ClinicalTrials.gov, a service of the U.S. National Institutes of Health.

ClinicalTrials.gov last update: July 4, 2025Data synced to Clareo: March 29, 2026

Modifications: This data has been reformatted for display purposes. Eligibility criteria have been parsed into inclusion/exclusion sections. Location data has been geocoded to enable distance-based search. For the authoritative and most current information, please visit ClinicalTrials.gov.

Neither the United States Government nor Clareo Health make any warranties regarding the data. Check ClinicalTrials.gov frequently for updates.

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The Belgian Genome Resource to Resolve Rare Diseases

Inclusion Criteria

Exclusion Criteria

MEHMO Natural History and Biomarkers

Baylor Continence Scale Validity in Anorectal Malformation

Long Term Follow-up After Embolization of Brain Arteriovenous Malformations

Respiratory and Psychological Impact of Elective Surgery of Congenital Lung Malformations

Sonography-guided Resection of Brain Mass Lesions

Neurosurgical Outcome Network