DRKS00021754招募中不适用
Retrospective Analysis of Natural History of Patients with Pearson Syndrome
niversitätsklinikum Freiburg, Zentrum für Kinder- und Jugendmedizin, Klinik IV, Pädiatrische Hämatologie/Onkologie0 个研究点目标入组 25 人开始时间: 2020年6月5日最近更新:
适应症
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 25
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
- one 至 one（—）
- 性别
- All
入选标准
- •1. Individuals of any age with a confirmed diagnosis of Pearson syndrome are included. Pearson syndrome required the presence of anaemia at diagnosis and typical bone marrow finding with vacuolization of marrow precursors and/or ring sideroblasts.
- •2. Genetic confirmation of the diagnosis by detection of a large scale mtDNA deletion is necessary.
排除标准
- •1. Absence of a genetic report indicating a large scale mtDNA deletion
- •2. No informed consent from parents
研究者
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