Clinical and Molecular Study, Natural History of Asphyxiating Thoracic Dystrophy (DTJ)
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 50
- 试验地点
- 1
- 主要终点
- Natural history of asphyxiating thoracic dystrophy (ATD)
研究概览
简要总结
The aim of the project is to prospectively analyze at a clinical and molecular level a series of 50 asphyxiating thoracic dysplasia (ATD) patients and 20 fetuses to further define the natural history of the disorder and to contribute to the identification of its molecular basis.
详细描述
Asphyxiating thoracic dysplasia (ATD, MIM 208500) belongs to the short rib polydactyly group and is characterized by short ribs often responsible for an early death due to respiratory distress, trident acetabular roof and short long bones.
In the course of the disease, renal, liver and eye complications may occur. However, their frequencies are unknown.
ATD is transmitted with an autosomal mode of inheritance and up till now only one gene has been identified, namely IFT80, which accounts only for a small part of ATD.
The aim of our project is to prospectively analyze at a clinical and molecular level a series of 50 ATD patients and 20 fetuses to further define the natural history of the disorder and to contribute to the identification of its molecular basis.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Short ribs with narrow thorax
- •Trident acetabular roof
- •Short hands
- •Informed consent signed
排除标准
- •Other disease
- •Ellis van creveld syndrome
- •No social security
结局指标
主要结局
Natural history of asphyxiating thoracic dystrophy (ATD)
时间窗: 3 years
次要结局
- Correlation Phenotype-Genotype(3 years)