Cross-sectional and Prospective Study to Characterize Early-onset Presbycusis
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- Sensorion
- 入组人数
- 100
- 试验地点
- 4
- 主要终点
- Evolution of hearing impairment of adult patients with early-onset presbycusis carrying mutations in GJB2 gene.
研究概览
简要总结
The purpose of this study is to characterize and assess the evolution of hearing impairment of patients with adulthood-onset bilateral sensorineural hearing loss carrying mutations on GJB2 gene.
详细描述
This study aims to characterize patients with adulthood-onset bilateral sensorineural hearing loss not due to any underlying medical condition (likely due to a genetic cause) and to assess the evolution of hearing impairment of those carrying mutations in GJB2 gene.
Patients who present with adulthood-onset bilateral sensorineural hearing loss will be screened for the presence of mutation involved in hearing impairment. Patients with GJB2 mutations will be proposed to continue in a follow-up period.
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Other
入排标准
- 年龄范围
- 30 Years 至 55 Years（Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Female or Male patients ≥30 and ≤55 years old
- •Bilateral hearing loss first noticed after the age of 16 years old
- •Documented genotyping results showing mutations in GJB2 gene.
排除标准
- •Deafness with a known, non-genetic cause
- •To the opinion of the investigator, unable and/or unwilling to comply with all the protocol requirements and/or study procedures
结局指标
主要结局
Evolution of hearing impairment of adult patients with early-onset presbycusis carrying mutations in GJB2 gene.
时间窗: 2 years
Evolution of hearing impairment assessed by Pure Tone Audiometry
Evolution of hearing impairment of adult patients with early-onset presbycusis carrying mutations in GJB2 gene
时间窗: 2 years
Evolution of hearing impairment assessed by Speech in noise
次要结局
- Genetic characteristics of adult patients with early-onset presbycusis(Unique visit)
- Audiological characteristics of adult patients with early-onset presbycusis(Unique visit)
- Mood evaluation in adult patients with early-onset presbycusis carrying mutations in GJB2 gene(2 years)