Clinical Phenotypic Characteristics of the Solute Carrier Family 26 Member 4 (SC26A4) Mutation in Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct (PS/NSEVA)
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 发起方
- 入组人数
- 300
- 试验地点
- 1
- 主要终点
- Hearing test
研究概览
简要总结
The presence or absence of SC26A4, whether combined with Mondini malformation, and patient age, are important factors affecting the degree of hearing loss in the Chinese population.
详细描述
To summarize the Solute Carrier Family 26 Member 4 (SLC26A4) mutation and clinical phenotypic characteristics of Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct (PS/NSEVA) patients and provide evidence supporting the clinical diagnosis and genetic counseling of patients with PS/NSEVA. A retrospective cohort study for the Chinese population is needed.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients with Enlarged Vestibular Aqueduct;
- •Patients with hearing loss;
- •Patients with results of SLC26A4 sequencing;
排除标准
- •Subjects will be excluded from this study if any of the following are present:
- •Audiometric data is incomplete
- •Incomplete basic information
- •Patients who did not undergo HRCT
结局指标
主要结局
Hearing test
时间窗: through study completion, an average of 0.5 year
Extraction from patient clinical information database and secondary use. The Auditory Steady State Response test is conducted to evaluate the degree of hearing loss.
SLC26A4 sequencing
时间窗: through study completion, an average of 0.5 year
Extraction from patient clinical information database and secondary use. From each patient included in the study, 3 ml of peripheral blood was collected and the DNA extracted for the diagonosis in the past.
High-resolution computed tomography of the temporal bone
时间窗: through study completion, an average of 0.5 year
Extraction from patient clinical information database and secondary use. High-resolution computed tomography of the temporal bone is used to measure the width of the vestibular aqueduct (VA) in the left and right ears to determine whether other inner ear malformations exist.
次要结局
未报告次要终点
研究者
Shiming Yang, PhD
Departmant of Otolaryngology Head and Neck Surgery
Chinese PLA General Hospital