Assessment of Patients Not Concluded After Neonatal Screening of Cystic Fibrosis, CFTR-RD Misdiagnosis.
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 发起方
- 入组人数
- 400
- 主要终点
- lung Imaging
研究概览
简要总结
Assessment of the outcome of patients not concluded fir cystic fibrosis, either symptomatic patients or asymptomatic children detected by newborn screening for cystic fibrosis. The aim is to identify patients potentially at risk of progressing to the clinical spectrum of cystic fibrosis
详细描述
Among patients not concluded for the diagnosis of cystic fibrosis, some are carriers of CFTR-RD mutations, therefore at risk of progressing to a symptomatic form, and may already have a subclinical involvement that it is important to identify. Among patients who do not carry the CFTR-RD genotype, other patients may be at risk of developing symptoms, if they are carriers of an undetected variant or wrongly classified as non-pathogenic. It is important to detect them to prevent the onset of symptoms
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •patients not concluded for the diagnosis of Cystic fibrosis either because of intermediate sweat test or because extensive genetic study has identified 2 vrainats at least 1 being not CF causing
排除标准
- •patients carrying 2 CF causing variants of the CFTR gene
- •patients carrying only 1 or no variants of CFTR
结局指标
主要结局
lung Imaging
时间窗: within 3 months after visit
abnormal lung Imaging score, assessing the area of the lung with bronchiectasis, bronchial wall thickening, mucus plug and air trapping
次要结局
- pancreatic function(within 2 weeks after visit)
- lung infection(within 2 weeks after visit)
研究者
Isabelle Sermet-Gaudelus
Professor
Hôpital Necker-Enfants Malades