Longitudinal Study of the Natural History of Two Autosomal Recessive Non Syndromic Deafness (DFNB1A and DFNB9) in Children up to 16 Years of Age
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- Sensorion
- 入组人数
- 180
- 试验地点
- 1
- 主要终点
- Audiological characteristics
研究概览
简要总结
The purpose of this study is to follow the natural history of non-syndromic hearing loss caused by mutations in two genes (GJB2 or OTOF) in children up to 16 years of age.
详细描述
The study aims to:
- better describe the prevalence of cases of DFNB1A and DFNB9, including the type of mutations, and to assess the clinical course of the disease in children up to 16 years of age who have a mild to profound deafness.
- better understand the audiological and genetic characteristics of the participants with congenital versus evolutive DFNB1A and DFNB9 deafness.
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 16 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Main Inclusion Criteria:
- •Participants meeting all the following main inclusion criteria will be eligible to participate in the study:
- •Aged ≤ 16 years on the date of signed informed consent for cohort 1 and ≤ 10 years for cohort 2;
- •With a diagnosis of non-syndromic, bilateral, mild to profound, sensorineural hearing loss (according to the American Speech Language-Hearing Association);
- •With documented genotyping results showing mutation(s) in GJB2 or OTOF genes;
- •Written informed consent as required by local regulations.
- •Either without Cochlear Implant, or with unilateral or bilateral Cochlear Implant(s)
排除标准
- •Participants presenting with any of the following main exclusion criteria will not be included in the study
- •Other type of deafness, such as unilateral deafness, persistent conductive deafness, malformation syndrome, syndromic deafness, known familial deafness linked to mutations in other genes than OTOF or GJB2;
- •Documented genotyping results showing pathogenic mutation(s) in other gene(s) than GJB2 or OTOF genes in the tested panel;
- •Unable and/or unwilling to comply with all the protocol requirements and/or study procedures.
研究组 & 干预措施
Cohort 1b
Patients receiving unilateral or bilateral Cochlear Implant(s) during the study period, after study entry
干预措施: Pure Tone Audiometry Assessment (Other)
Cohort 2
Patients with Cochlear Implant(s) (unilateral or bilateral) at study entry
干预措施: Quality of Life Questionnaires (Other)
Cohort 1a
Patients without Cochlear Implant, with or without Hearing Aid(s) at study entry
干预措施: Pure Tone Audiometry Assessment (Other)
Cohort 1a
Patients without Cochlear Implant, with or without Hearing Aid(s) at study entry
干预措施: Quality of Life Questionnaires (Other)
Cohort 1b
Patients receiving unilateral or bilateral Cochlear Implant(s) during the study period, after study entry
干预措施: Quality of Life Questionnaires (Other)
Cohort 2
Patients with Cochlear Implant(s) (unilateral or bilateral) at study entry
干预措施: Pure Tone Audiometry Assessment (Other)
结局指标
主要结局
Audiological characteristics
时间窗: Up to 4 years
Pure Tone Audiometry, thresholds on 500, 1000, 2000, 4000 Hz Speech audiometry
Electrophysiological characteristics: ABR
时间窗: Up to 4 years
Auditory Brainstem Response, thresholds
Electrophysiological characteristics: OAE
时间窗: Up to 4 years
Otoacoustic Emissions thresholds
次要结局
- Genotypic and phenotypic characterisation(1 Day)
- Hearing-related Quality of Life questionnaire(Up to 4 years)