NCT01758354已完成不适用
Newborn Screening Assay of Pompe's Disease
适应症
干预措施
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 236,536
- 试验地点
- 1
- 主要终点
- detect patients with infantile onset Pompe disease
研究概览
简要总结
The purpose of this study is to test the feasibility of a newborn screen assay for Pompe disease
详细描述
DBS from newborn will be tested for acid alpha-glucosidase (GAA) activity. Babies with low GAA activity will be confirmed for Pompe disease.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Screening
- 盲法
- None
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •newborns receiving newborn screening in Newborn Screening center of National Taiwan Univeristy Hospital
- •parents signed inform consent for this study
排除标准
- 未提供
研究组 & 干预措施
Pompe disease newborn screening
Experimental
newborns will be tested if they were affected by Pompe disease
干预措施: Pompe disease newborn screening (Other)
结局指标
主要结局
detect patients with infantile onset Pompe disease
时间窗: 3 months
次要结局
未报告次要终点
研究者
研究点 (1)
Loading locations...
相似试验
Unknown
不适用
Screening for Early Detection and Prevention of Pompe Disease in Israel Using Tandem Mass SpectrometryPompe DiseaseNCT01409486Rambam Health Care Campus10,000
已完成
不适用
Development of a Newborn Screening Assay for Angelman Syndrome and Prader-Willi SyndromePrader-Willi SyndromeAngelman SyndromeNCT05783791University of Wisconsin, Madison11
已完成
不适用
Developing Newborn Screening for Infants With Primary ImmunodeficiencyImmune System DiseasesNCT00113464National Human Genome Research Institute (NHGRI)100
已完成
不适用
Neonatal Screening of Severe Combined ImmunodeficienciesNeonatal ScreeningSevere Combined ImmunodeficiencyNCT02590328Children's Hospital of Fudan University180,000
Unknown
不适用
Clinical Specimen Collection From Pompe Disease PatientsPompe DiseaseNCT04476550Serhat Gumrukcu, MD PhD12