Retrospective Multicentre Study on the Impact of Neonatal Screening for Congenital Adrenal Hyperplasia in Italy
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 29
- 试验地点
- 4
- 主要终点
- Incidence of classic Congenital Adrenal Hyperplasia in neonates who underwent neonatal screening in the reporting period
研究概览
简要总结
Oservational, retrospective, multicenter study focused on neonatal screening for Congenital Adreanl Hyperplasia.
详细描述
The study refers to neonates who underwent neonatal screening for Congenital Adreanl Hyperplasia between January 2006 and December 2019 at participating centres, but only patients diagnosed with Congenital Adreanl Hyperplasia are enrolled in the study.
The primary aims are: to assess the incidence of classic Congenital Adrenal Hyperplasia in neonates who underwent neonatal screening in the reporting period; to calculate the sensibility of Neonatal Screening for classic Congenital Adrenal Hyperplasia; to calculate the positive predictive rate. The secondary aims are: to describe the biochemical, hormonal, and clinical features of neonates at diagnosis of Congenital Adrenal Hyperplasia; to assess the time required for diagnosis; to calculate the false positive rate; to calculate the diagnostic impact of neonatal screening for Congenital Adrenal Hyperplasia.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 年龄范围
- — 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Neonatal who underwent neonatal screening for congenital adrenal hyperplasia between January 2006 and December 2019 at participating centres;
- •Patients diagnosed with Congenital Adrenal Hyperplasia;
- •Obtaining informed consent.
排除标准
- 未提供
结局指标
主要结局
Incidence of classic Congenital Adrenal Hyperplasia in neonates who underwent neonatal screening in the reporting period
时间窗: at baseline
number of patients diagnosed with classic Congenital Adrenal Hyperplasia between January 2006 and December 2019
Positive predictive rate
时间窗: at baseline
TP / (TP + FP)
Sensibility of Neonatal Screening for classic Congenital Adrenal Hyperplasia
时间窗: at baseline
Sensibility of Neonatal Screening
次要结局
- Diagnostic impact of neonatal screening for Congenital Adrenal Hyperplasia(at baseline)
- Neonatal clinical features at diagnosis of Congenital Adrenal Hyperplasia(at baseline)
- Neonatal hormonal features at diagnosis of Congenital Adrenal Hyperplasia(at baseline)
- Neonatal biochemical features at diagnosis of Congenital Adrenal Hyperplasia(at baseline)
- Time required for diagnosis of Congenital Adrenal Hyperplasia(at baseline)
- False positive rate(at baseline)
研究者
Federico Baronio
MD
IRCCS Azienda Ospedaliero-Universitaria di Bologna