Patient Registry for Individuals With Otoferlin-Associated Hearing Loss
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 100
- 试验地点
- 1
- 主要终点
- Speech audiometry
研究概览
简要总结
This registry is designed to collect comprehensive information about the molecular genetic diagnoses of individuals with otoferlin-associated hearing impairment and clinical information to support a natural history study.
详细描述
A patient registry, in both German and English languages, has been established for patients with hereditary hearing impairment due to variants in otoferlin (OTOF). The study is conducted in accordance with the current version of the Declaration of Helsinki. The study protocol and database structure have been approved by the Ethics Committee of the University Medical Center Göttingen.
Main objective criterion:
To increase understanding of natural history, types of genetic variants and to facilitate clinical and basic research on otoferlin-associated hearing impairment.
Secondary objective criterion:
To improve knowledge to better characterize individuals with otoferlin-associated hearing impairment in the long term and create prerequisites for improved, patient tailored therapy and care.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Other
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •A molecular genetic diagnosis involving biallelic variants in otoferlin (OTOF) and audiometry
排除标准
- •Patients with evidence of non-OTOF molecular genetic diagnoses
结局指标
主要结局
Speech audiometry
时间窗: 1 year, year 1, according to participant consent
Audiological characteristics
Pure-tone audiometry
时间窗: 1 year, year 1, according to participant consent
Audiological characteristics
次要结局
- Otoacoustic emission thresholds(1 year, year 1, according to participant consent)
- Auditory brainstem response(1 year, year 1, according to participant consent)
研究者
Tobias Moser
Prof.
University Medical Center Goettingen