A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 100,000
- 试验地点
- 2
- 主要终点
- Number of newborns in relation to the number of cases of blotting paper collected
研究概览
简要总结
The study will include all newborns in Normandie region for 3 years (about 105,000 births) for whom signed consent by one (or two) parents will be collected. Based on our previous pilot study (2011) assessing MCAD and PKU using tandem mass spectrometry-based method in Normandie region in which informed consents have been signed for all newborns (43,000) but we are expecting a great willingness to participate to this project. Thus, we are aiming to include 100,000 newborns, and the study will be continued until we reach at least this target.
The primary objective is to evaluate the epidemiology of MPS1 and Pompe disease using dried blood samples in the first cohort of neonates tested in France (Normandie region).
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 1 Day 至 4 Days（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Newborn in a Normandy maternity hospital
- •Newborn participating in the National Neonatal Screening Program
- •Holder(s) of parental authority having read and understood the information letter and signed the informed consent form
排除标准
- •There are no criteria for non-inclusion in this study. Participation in the study, such as participation in the National Neonatal Screening Program, is not mandatory.
研究组 & 干预措施
neonates tested in Normandie, France
All neonates will be tested in Normandie
干预措施: Additional blood sampling (Procedure)
结局指标
主要结局
Number of newborns in relation to the number of cases of blotting paper collected
时间窗: From day 2 to day 4
次要结局
- Number of newborns with positive sample for Mucopolysaccharidosis type I(From day 2 to day 4)
- Number of newborns with positive sample for Pompe disease(From day 2 to day 4)