Mitochondrial Genetics of Presbycusis
试验速览
- 阶段
- 不适用
- 发起方
- 入组人数
- 200
- 试验地点
- 1
- 主要终点
- identification of mitochondrial mutations associated with presbycusis
研究概览
简要总结
The main goal of this study is to identify mitochondrial mutations associated with presbycusis. Patients affected by severe presbycusis and normal hearing controls (according to ISO7029 norm) will be enrolled if satisfying inclusion criteria (aged from 40 to 80 years old) in existing biocollections in the University Hospital of Angers. After DNA extraction, the mitochondrial genome will be sequenced and data in silico analysed.
详细描述
The study will be proposed to patients consulting in the ENT department of the University Hospital of Angers. After clinical examination and audiometry recording, the eligibility criteria will be checked and inclusion in biocollections proposed. Presbycusis affected subjects will be enrolled in "Mitochondrial Disease biocollection" and normal hearing controls in "Healthy Volunteer biocollection". These biocollections have been approved by the board comitee "Centre de Protection des Personnes".
After DNA extraction and mitochondrial sequencing, candidate variants will be selected by in silico analysis. The presence of mitochondrial variants in both groups (presbycusis and control) will be compared in multivariate analysis if needed.
The nuclear DNA may be sequenced in order to complete the previous analysis and look for any candidate variant .
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 年龄范围
- 40 Years 至 80 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •age related hearing loss more severe than the predicted hearing thresholds according to the norm ISO7029, for the presbycusis population;
- •normal hearing according to norm ISO7029 for the control population
排除标准
- •deafness diagnosed before 40 years old
- •exclusion criteria of one of the biocollection
结局指标
主要结局
identification of mitochondrial mutations associated with presbycusis
时间窗: the analysis will be conducted at the end of the inclusion of the 200 patients
Enrichment analysis will be perfomed with CHI2 test after Benjamini correction.
次要结局
- identification of genomic variants associated with presbycusis(the analysis will be conducted at the end of the inclusion of the 200 patients)
- identification of DNA variants associated with environmental susceptibility(the analysis will be conducted at the end of the inclusion of the 200 patients)