NCT02399761已完成不适用
Newborn Screening for Aromatic L-amino Acid Decarboxylase Deficiency
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
- 是
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
研究点 (1)
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