Combating Diagnostic Wandering and Impasse for Cystic Fibrosis: Assessment of Patients Not Concluded After Neonatal Screening of Cystic Fibrosis
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 发起方
- 入组人数
- 400
- 试验地点
- 1
- 主要终点
- sputum bacteriology
研究概览
简要总结
After cystic fibrosis (CF) neonatal screening, some children remain with a not concluded diagnosis. In France, the medical follow-up is not standardized, some of them may be lost of follow-up. The aim of the study is to identify children at risk of developing CF. Other children carry mutation at risk of CFTR related disorder (CFTR-RD) but remain asymptomatic during childhood. The aim of the study is to evaluate those children by microbiology, respiratory function test and lung imaging tests to reclassify them in the CFTR spectrum.
详细描述
Cystic fibrosis (CF) is a life-limiting genetic disorder related to the mutation of the CF Transmembrane Conductance Regulator (CFTR) gene. Cystic fibrosis neonatal screening in France has been generalized in 2002. Patients with hypertrypsinemia and two CF mutations are diagnosed CF and followed in CF center with standards of care.
But some children with hypertrypsinemia may have an intermediate chloride sweat test and only one CFTR mutation, or a negative sweat test and two CFTR mutations at least one of which is of unknown pathogenicity.
Some other patients may present with two CFTR-RD mutations and may unravel a monosymptomatic disease in adulthood (CFTR-related disorder) such as congenital bilateral absence of vas deferens (CBAVD), acute recurrent or chronic pancreatitis, disseminated bronchiectasis, chronic rhinosinusitis...We have very few data about age of onset, type of symptoms, and infraclinical disease.
Patients will be identified according to neonatal screening data and genetic database, and will undergo clinical evaluation, pancreatic and lung disease evaluation to reclassify them in the CFTR spectrum.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Cross Sectional
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •undiagnosed patients with hypertrypsinemia at CF neonatal screening and :
- •either an intermediate chloride sweat test (30-59 mmol/L) and at most one CFTR mutation
- •or negative chloride sweat test (< 30 mmol/L) and two CFTR mutations one of wich is of unknown significance (VUS)
- •patients with two CFTR mutations at least one of which is of Varying Clinical Consequence according to "CFTR2" database or "CFTR-RD" according to "CFTR-France" database.
排除标准
- •CF patients with 2 CF causing mutations
结局指标
主要结局
sputum bacteriology
时间窗: previous and at inclusion
bacteria, fungi and mycobacteria
次要结局
- spirometry(previous and at inclusion)
- Lung Clearance index (LCI)(previous and at inclusion)
- pancreatic function(previous and at inclusion)
- Plethysmography(previous and at inclusion)
- liver ultrasound(previous and at inclusion)
- sweat test(previous and at inclusion)
- pulmonary exacerbations(previous to inclusion)
- liver function(previous and at inclusion)
- lung imaging(previous and at inclusion)
研究者
Isabelle SERMET-GAUDELUS
Professor
Societe Francaise de la Mucoviscidose