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临床试验/NCT04351893
NCT04351893已完成不适用

Craniofacial Microsomia: Accelerating Understanding of the Significance and Etiology

Seattle Children's Hospital9 个研究点 分布在 4 个国家目标入组 935 人开始时间: 2018年2月23日最近更新:
适应症

试验速览

阶段
不适用
状态
已完成
入组人数
935
试验地点
9
主要终点
Identify Genetic Variants

研究概览

简要总结

The CAUSE study is a multicenter study, with domestic (n=4) and international (n=6) study sites. Children and young adults (ages 0-18) who have microtia and/or craniofacial microsomia and their parents are invited to participate. Children and parents are asked to provide a DNA sample (blood or saliva) and are asked to upload a few photos of their face. Parents are asked a short interview. Participants are able to participate from home or at one of four domestic sites.

研究设计

研究类型
Observational
观察模型
Case Only
时间视角
Prospective

入排标准

年龄范围
0 Years 至 18 Years(Child, Adult)
性别
All
接受健康志愿者

入选标准

  • 未提供

排除标准

  • 未提供

结局指标

主要结局

Identify Genetic Variants

时间窗: Through study completion, an average of 1 year.

To identify genetic variants related to the CFM spectrum using whole genome sequencing

次要结局

  • Characterize phenotype(Through study completion, an average of 1 year.)
  • Characterize markers(Through study completion, an average of 1 year.)
  • Coding and non-coding variants(Through study completion, an average of 1 year.)

研究者

申办方类型
Other
责任方
Principal Investigator
主要研究者

Carrie Heike

Professor

Seattle Children's Hospital

研究点 (9)

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