Patient Registry for Individuals With CABP2-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
- Pure-tone audiometry
研究概览
简要总结
This registry is designed to collect comprehensive information about the molecular genetic diagnoses and clinical information of individuals with CABP2-associated hearing impairment 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 CABP2. 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 Goettingen.
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 CAPB2 and audiometry
排除标准
- •Patients with evidence of non-CABP2 molecular genetic diagnoses
研究组 & 干预措施
CABP2 participant group
Individuals with hearing impairment who have a molecular genetic diagnosis involving CABP2
干预措施: Molecular genetic testing and audiometry (Diagnostic Test)
结局指标
主要结局
Pure-tone audiometry
时间窗: 1 year, year 1, according to participant consent
Pure tone audiometry is a behavioral hearing test used to measure an individual's hearing threshold levels
Speech audiometry
时间窗: 1 year, year 1, according to participant consent
Speech audiometry is a test or series of tests to determine a patient's ability to discriminate speech sounds and hearing speech or speech in noise
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