The Belgian Genome Resource to Resolve Rare Diseases
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 567
- 试验地点
- 1
- 主要终点
- Whole genome sequencing (WGS) performance compared to Whole exome sequencing (WES) performance
研究概览
简要总结
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.
研究设计
- 研究类型
- Interventional
- 分配方式
- Randomized
- 干预模型
- Parallel
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- •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
结局指标
主要结局
Whole genome sequencing (WGS) performance compared to Whole exome sequencing (WES) performance
时间窗: From enrollment to reporting the results of the analysis : target turn around time of 6 months
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.
次要结局
未报告次要终点