The Belgian Genome Resource to Resolve Rare Diseases

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

NA

Total Enrollment

567 participants

Study Classification

INTERVENTIONAL

Study Start Date

2021-06-02

Study Completion Date

2025-01-31

Brief Summary

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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.

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Detailed Description

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Conditions

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Intellectual Developmental Disorder Malformations Dysmorphia Developmental Delay (Disorder)

Study Design

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Allocation Method

RANDOMIZED

Intervention Model

PARALLEL

Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

NONE

Study Groups

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Standard of Care including Whole Exome Sequencing

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.

Group Type ACTIVE_COMPARATOR

Whole exome sequencing

Intervention Type DIAGNOSTIC_TEST

Whole exome sequencing using Illumina short read sequencing

Whole Genome 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)

Group Type EXPERIMENTAL

Whole genome Sequencing

Intervention Type DIAGNOSTIC_TEST

Whole genome sequencing using Illumina short read sequencing

Interventions

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Whole exome sequencing

Whole exome sequencing using Illumina short read sequencing

Intervention Type DIAGNOSTIC_TEST

Whole genome Sequencing

Whole genome sequencing using Illumina short read sequencing

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

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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

Eligible Sex

ALL

Accepts Healthy Volunteers

No