Exome Sequencing Explored the Genetic Characteristics Congenital Hearing Loss in Chinese Population
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 发起方
- 入组人数
- 50
- 主要终点
- Whole exome sequencing data
研究概览
简要总结
Congenital hearing loss, as well as hearing loss present at birth, is one of the most common chronic conditions in children, with a prevalence of permanent bilateral hearing loss of 2.83 per 1000 children of primary school age, which is mainly caused by genetic factors. The goal of this observational study is to learn about novel causative genes in infants with hearing loss in the Chinese population. The main problem it aims to deal with are:
- to present the genetic characteristics of the infant with hearing loss in the Chinese population
- to build up a prognostic model base on diverse data.
Participants will be asked to receive audiological tests and collection of the peripheral blood sample.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- — 至 6 Months（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Age up to 6 months
- •Fail in the neonatal hearing screening programs, including oto-acoustic emissions and automated auditory brain stem response
- •Promise to complete the tests required at baseline and follow-ups by the legal representative
- •Informed consent by the legal representative
排除标准
- •Congenital infections related to acquired or congenital hearing loss, including rubella virus, cytomegalovirus, herpes simplex virus, rubella virus, toxoplasma gondii and treponema pallidum infections
- •Other explicit otologic conditions which could induce hearing loss, including cerumen, otitis media, congenital middle ear abnormalities, microtia and external ear abnormalities
- •A drug with ototoxicity usage during pregnancy
- •Other severe congenital anomalies
结局指标
主要结局
Whole exome sequencing data
时间窗: Baseline
DNA of neonate extracted from blood sample by heel prick or collection of cord blood will be perform whole exome sequencing to present genetic features. By sequencing all protein-coding regions, WES uncovers mutations that can inform diagnostic, therapeutic, and preventive strategies. Key outcome measures from WES include the detection of single nucleotide polymorphisms, insertions, deletions, and structural variants. These outcomes are critical for diagnosing genetic disorders, personalizing treatments, and assessing disease risk. The analysis involves aligning reads to a reference genome, calling variants, and interpreting their clinical significance. WES data thus serves as a cornerstone in genetic research and personalized medicine, enabling a deeper understanding of the genetic underpinnings of diseases and tailoring healthcare approaches to individual genetic profiles.
次要结局
- Auditory brainstem response testing(Baseline)
- TEOAE-based otoacoustic emissions test outcome measure(Baseline)
- Acoustic impedance(Baseline)
- Audiogram(4 years follow up)
研究者
Dan Bing
associate professor
Tongji Hospital