NL-OMON48331招募中不适用
Fasting tolerance in patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD) in the first six months of life: an investigator-initiated human pilot-study. - *FiTtINg MCADD*: Fasting Tolerance In MCADD-infants.
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 20
研究概览
简要总结
暂无简介。
研究设计
- 研究类型
- Observational
入排标准
- 年龄范围
- 2 至 11（—）
入选标准
- •1. Age below 6 months of life. In case of premature births, the child may be included and treated according to the corrected age.;2. Established MCADD diagnosis. The diagnosis should be confirmed by a combination of (a) NBS outcome (b) MCAD enzyme activity measured with phenylpropionyl-CoA as a substrate, ideally in lymphocytes (considered to be the golden standard) and (c) ACADM gene mutation analysis.
排除标准
- •Any other chronic and/or genetic condition that is deemed an exclusion criterion based on the judgement of the treating metabolic paediatrician or investigators.
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