NCT04350619Unknown不适用
Promote Personalized Medicine Based on Diagnostic Genomic Tools in Order to Innovate in the Early Detection of Child Deafness in the SUDOE Space (European International Project)
Clinica Universidad de Navarra, Universidad de Navarra1 个研究点 分布在 1 个国家目标入组 220 人开始时间: 2020年4月30日最近更新:
适应症
试验速览
- 阶段
- 不适用
- 发起方
- 入组人数
- 220
- 试验地点
- 1
- 主要终点
- Prevalence of mutation
研究概览
简要总结
To assess the diagnostic value of NGS screnning in prelingually deafned children using a new designed chip, and to evaluate its interest in a the neonatal screening program for ddetecting congenitally deafned children.
详细描述
The aim of the study is to evaluate the diagnostic value of a new panel of gene in NGS study in children presenting :
- A congenitally deafness : it is a retrospective study in children aged 0 to 17 yrs with hearing thresholds over 40 dB in the best ear using adapted audiometric assessment,
- A suspicion of deafness in babies aged 0 to 6 months having an abnormal response after otoacoustic emissions and automated ABR assessment.
The main outcomes studied will be the finding of a pathogenic mutation (or several mutations).
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- — 至 17 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Retropective study
- •Inclusion criteria:
- •Age of onset of deafness between 0 and 17 years
- •With a hearing loss of one or two senses with, on the ear most affected, a hearing loss more than 40 dB in mean audiometric loss in behavioural audiometry
- •Availability of detailed information in Appendix 1: History, history and course of disease, associated symptoms, otoscopy data, radiology, treatments and hearing aids implemented.
- •Availability of DNA samples stored in an existing collection.
- •Consent to participate in the study (non-opposition) by the legal representative
排除标准
- •Exclusion criteria:
- •Child with a known cause of observed deafness (meningitis, post-surgery or drug iatrogenic, trauma, infections, tumor)
- •Family not willing to participate in the study
- •Prospective study
- •Inclusion criteria:
- •Age of the child 0 to 6 months including corrected age having had on at least one of the two ears a lack of acoustic otoemissions and a lack of response in automated PEA, and a threshold of PEA at least on one ear at more than 40 dB.
- •Availability of detailed information in Appendix 2: Personal history, family history of deafness, associated symptoms, tympanometry, otoscopy data, neonatal deafness test data.
- •Collection of the consent of the legal representative
- •Exclusion criteria:
- •· Family not willing to participate in the study
结局指标
主要结局
Prevalence of mutation
时间窗: 1 day
It will realized the extraction blood sample in the same day and clinical information will be collected also.
次要结局
- Phenotyping the mutation(1 day)
研究者
研究点 (1)
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