NL-OMON53364尚未招募不适用
Identification and functional characterization of causal genetic variants in patients with an unexplained bleeding tendency - Unraveling the genetics of rare bleeding disorders
适应症
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 入组人数
- 30
研究概览
简要总结
暂无简介。
研究设计
- 研究类型
- Observational
入排标准
- 年龄范围
- 16 至 99（—）
入选标准
- •1. Patient has previously undergone a diagnostic WES analysis and provided
- •written informed consent for unrestricted exome analysis and data sharing
- •OR Patient has a severe bleeding tendency (ISTH-BAT >10) of unknown (genetic)
- •origin and is part of a family with at least 3 family members with an elevated
- •ISTH-BAT score (male >= 4, female >= 6).
- •a. Participant is a family member (affected or unaffected) of an index patient
排除标准
- •no informed consent provided
- •Opt-out from incidental findings
研究者
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