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临床试验/NCT02399761
NCT02399761已完成不适用

Newborn Screening for Aromatic L-amino Acid Decarboxylase Deficiency

National Taiwan University Hospital1 个研究点 分布在 1 个国家目标入组 154,795 人开始时间: 2012年8月最近更新:
适应症

试验速览

阶段
不适用
状态
已完成
入组人数
154,795
试验地点
1
主要终点
Number of newborns with AADC deficiency

研究概览

简要总结

Parents of newborns will be invited to test if their newborns are affected with Aromatic L-amino Acid Decarboxylase (AADC) deficiency.

详细描述

Parents of newborns will be invited to test if their newborns are affected with Aromatic L-amino Acid Decarboxylase (AADC) deficiency. The routine newborn screening dried blood spots sample will be used to test if 3-O-methyldopa (3-OMD) concentration elevates. If positive of screening test, further confirmation tests including physical examination and for mutation. Genetic counseling and treatment option will be provided, too.

研究设计

研究类型
Observational
观察模型
Cohort
时间视角
Prospective

入排标准

年龄范围
— 至 3 Months(Child)
性别
All
接受健康志愿者

入选标准

  • Babies born in Taiwan receive regular new born screening suggested by Ministry of Heath and Welfare.
  • Parents or Legal Guardian sign in the informed consent form.

排除标准

  • Parents or Legal Guardian do not agree to sign in the informed consent form.

结局指标

主要结局

Number of newborns with AADC deficiency

时间窗: 3 years

次要结局

未报告次要终点

研究者

申办方类型
Other
责任方
Sponsor

研究点 (1)

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