Identification of Mutations That Lead to Craniometaphyseal Dysplasia in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 600
- 试验地点
- 1
- 主要终点
- Identification of genetic elements
研究概览
简要总结
CMD can be inherited in an autosomal dominant or recessive trait. CMD may also be caused by de novo mutations. The goal of this study is to identify genes and regulatory elements on chromosomes that are the cause for CMD. The investigators also study blood samples and tissue samples from patients to learn about the processes that lead to this disorder. The investigators long-term goal is to find mechanisms to slow down bone deposition in CMD patients.
详细描述
CMD is a very rare bone disorder that affects mostly bones of the head (=cranial bones) but also long (=tubular) bones. Therefore, CMD has been added to the class of craniotubular bone disorders. There are a number of disorders in this group and sometimes they are difficult to distinguish. Typical signs for CMD are the lifelong bone deposition in bones of the face and head (=progressive craniofacial hyperostosis) and the widening of the ends of long bones (=metaphyseal flaring). Typical facial characteristics are wide-set eyes and a prominent jaw (=mandible). CMD is sometimes diagnosed in infants. The best way to confirm diagnosis is by molecular genetics.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •CMD; unaffected individuals only if part of a participating CMD family
排除标准
- •No CMD; unaffected individuals only as part of a participating CMD family
结局指标
主要结局
Identification of genetic elements
时间窗: at time of identification
The goal is to identify relevant genes or genetic elements that cause the disease or contribute to the disease progression and severity.
次要结局
未报告次要终点
研究者
Ernst Reichenberger
Prof.
UConn Health