NCT07778641尚未招募不适用
Genetic Study of OTOF- Related Auditory Neuropathy Spectrum Disorder
适应症
干预措施
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 入组人数
- 30
- 试验地点
- 1
- 主要终点
- Study OTOF gene variants among patients with non-syndromic auditory neuropathy spectrum disorder
研究概览
简要总结
The aim of this observational study is to determine the prevalence of OTOF gene variants among patients with auditory neuropathy spectrum disorder (ANSD). The primary research question is whether patients with ANSD carry a pathogenic or likely pathogenic OTOF gene variant. Participants will undergo genetic analysis of the OTOF gene.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Cross Sectional
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •The study will be including 30 subjects of 30 patients of both sexes of any age with congenital hearing loss and confirmed diagnosis of non-syndromic ANSD:
- •A) Disproportionate speech discrimination score (SDS) with the hearing threshold level.
- •B)The auditory brainstem response (ABR) test with no waveform, disturbed waves, nor detectable wave V at high intense stimulus.
- •C) The otoacoustic emission (OAE) and/or cochlear microphonic (CM) potential may be present.
- •Informed consent.
排除标准
- •1) Known acquired risk factors of ANSD as preterm, hypoxia, hyperbilirubinemia. 2) Conductive hearing loss. 3) Syndromic ANSD hearing loss. 3) Binaural cochlear implants. 4) Inner ear malformation, cochlear nerve aplasia or hypoplasia.
研究组 & 干预措施
Patients with auditory neuropathy spectrum disorder
干预措施: Whole exome sequencing. (Diagnostic Test)
结局指标
主要结局
Study OTOF gene variants among patients with non-syndromic auditory neuropathy spectrum disorder
时间窗: At baseline, following enrollment and confirmation of eligibility.
次要结局
未报告次要终点
研究者
Mira Ayman Ramzy
Audio-vestibular medicine resident doctor
Sohag University
研究点 (1)
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