Genetic and Epigenetic Background of Inner Ear Dysfunction in Turner Syndrome
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 150
- 试验地点
- 1
- 主要终点
- Epigenetic profile
研究概览
简要总结
The goal of this case-control study is to pave the way for new revolutionary treatment measures within hearing loss that could either replace or delay the need for hearing aids. The study focuses on people with Turner syndrome (TS).
The aim is to find out if there are specific DNA methylation patterns and/or RNA expression profiles linked to sensorineural hearing loss (SNHL) in people with TS. Additionally, the structure and function of the inner ear in these individuals will be examined to see if there is a connection to their epigenetic profile.
The main question it aims to answer is: Does epigenetics constitute a common denominator for some of the unexplained SNHL cases?
Turner Syndrome (TS) represents an ideal model for studying epigenetics related to sensorineural hearing loss (SNHL).
Participants will undergo the following tests:
- Ear examinations
- Hearing tests
- Balance tests
- Blood tests
- MRI scans
- CBCT (cone-beam computed tomography) scans
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 18 Years 至 60 Years（Adult）
- 性别
- Female
- 接受健康志愿者
- 是
入选标准
- •age between 18 and 60 years old
排除标准
- •Contraindications for the MRI or CBCT
- •Serious medical disorders
- •Neurological or psychiatric disorders of any kind
- •Use of medication that is known to influence inner ear function
- •Medical history with dizziness or hearing problems (controls only)
研究组 & 干预措施
Group 1
Individuals with TS and SNHL
Group 3
Healthy age matched controls without TS and without SNHL
Group 2
Individuals with TS without SNHL
结局指标
主要结局
Epigenetic profile
时间窗: 2024-2026
DNA methylation analyses are conducted on the purified DNA. RNA expression analyses and ChIP-seq are performed on the purified RNA. Based on this, the epigenetic profile will be mapped to identify consistent differences associated with SNHL.
次要结局
- Hearing ability(2024-2026)
- Structural malformations(2024-2026)
- Vestibular status(2024-2026)
研究者
Louise Hill-Madsen
Medical Doctor
Gødstrup Hospital