Economic and Medical Evaluation of the Whole Mitochondrial DNA Screening by Surveyor and Mitochips Techniques
Economic and Medical Evaluation of the Whole Mitochondrial DNA Screening by Surveyor and Mitochips Techniques.
Mitochondrial diseases are the most frequent metabolic diseases (2.5 persons among 10 000) and are clinically heterogeneous making diagnosis particularly challenging for clinicians.
Molecular analysis of mitochondrial DNA (mtDNA) is a critical step in diagnosis and genetic counselling of respiratory chain defects. DNA sequencing remains the gold standard but it is time-consuming and fails to detect mutations that may be present at a low heteroplasmic level (20% or below); therefore the diagnosis is yet based on the detection of a few number of pathogenic mutations.
The present study aims to evaluate the benefit and the cost of a diagnosis strategy based on the combined use of 2 techniques named "Surveyor Nuclease" and "Mitochip". Surveyor nuclease is a mismatch-specific DNA endonuclease that will be used for screening the entire mtDNA in order to identify heteroplasmic mutations. In absence of any identified mutation, another technique based on the use an oligonucleotide sequencing microarray (MitoChip) will be performed for the identification of homoplasmic mutations. Mitochip is an array-based sequencing platform for rapid and high-throughput analysis of mitochondrial DNA.
The economical study will compare the cost of these techniques to the standard diagnosis method in term of direct and indirect costs
研究概览
地位
条件
研究类型
注册 (实际的)
联系人和位置
学习地点
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Nice、法国、06100
- CHU de Nice - Medical genetics laboratory
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参与标准
资格标准
适合学习的年龄
- 孩子
- 成人
- 年长者
接受健康志愿者
有资格学习的性别
取样方法
研究人群
描述
Inclusion Criteria:
- patients without deletion of mitochondrial disease and/or 3243, 8344 and 8993 mutation
- patient with health insurance
Exclusion Criteria:
- patients with deletion of mitochondrial disease and/or 3243, 8344 and 8993 mutation
- absence of patient consent
学习计划
研究是如何设计的?
设计细节
队列和干预
团体/队列 |
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mitochondrial diseases diagnosis
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研究衡量的是什么?
主要结果指标
结果测量 |
大体时间 |
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Evaluation of the benefit and the cost of a mitochondrial disease diagnosis strategy based on the combined use of 2 techniques named "Surveyor Nuclease" and "Mitochip"
大体时间:2 years
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2 years
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次要结果测量
结果测量 |
大体时间 |
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Evaluation of the benefit of the studiad strategy in comparison with standard diagnosis method in term of indirect costs
大体时间:2 years
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2 years
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合作者和调查者
调查人员
- 首席研究员:Véronique PAQUIS-FLUCKINGER, Pr、Centre Hospitalier Universitaire de Nice
研究记录日期
研究主要日期
学习开始
初级完成 (实际的)
研究完成 (实际的)
研究注册日期
首次提交
首先提交符合 QC 标准的
首次发布 (估计)
研究记录更新
最后更新发布 (估计)
上次提交的符合 QC 标准的更新
最后验证
更多信息
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