Surfactant Disorders Associated With Chronic Lung Disease in Children.
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 58
- 试验地点
- 1
- 主要终点
- To assess the prevalence of SFTPC mutation in children with chronic lung diseases
研究概览
简要总结
Interstitial lung diseases (ILD) in children represent a heterogeneous group of rare and not well defined disorders. Genetic abnormalities of surfactant proteins B (SFTPB) and more recently C (SFTPC) have been shown to be related to these pathologies. However, variability in the lung disease phenotype suggests the involvement of other surfactant-associated genes such as ABCA3 (ATP-binding cassette, sub-family A, member, 3). Thus, the aim of this project is: 1) to assess the prevalence of SFTPC mutation in children with chronic lung diseases, 2) to precise clinical and radiological features of children with SFTPC mutation, and 3) to identify environmental or genetic factors that may explain the extreme variability of this disease.
详细描述
The first stage of this project will be to constitute a clinical, radiological, biological database of children (1 moth-17 years) with severe respiratory distress and/or an unexplained chronic ILD. Mutations in SFTPC, SFTPB and ABCA3 will be further identified by sequencing and documented with using the parents blood samples.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 1 Month 至 17 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Children from 1 month to 17 years old with radiological alveola-interstitial syndrome and:
- •Oxygen weaning failure > 1 month in term newborn babies(>37th week of PCA)or> 40 weeks of PCA in preterm babies
- •Chronic respiratory disease define by chronic hypoxia and/or clinical signs of respiratory distress (cough, retractions, crackle)
- •Exclusion criteria:
- •informed consent denied
- •absence of social security
排除标准
- 未提供
结局指标
主要结局
To assess the prevalence of SFTPC mutation in children with chronic lung diseases
时间窗: At the inclusion visit
次要结局
- To precise clinical and radiological features of children with SFTPC mutation(At the inclusion visit)
- To identify environmental or genetic factors that may explain the extreme variability of this disease(At the inclusion visit)