Evaluation of a Cohort of Congenital Deep Deafness Patients and/or With Auditory Neuropathy, Looking for DFNB9
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 150
- 试验地点
- 1
- 主要终点
- Prevalence of deafness caused by DFNB9
研究概览
简要总结
Evaluation of a cohort of deaf children looking for autosomal recessive deafness-9 (DFNB9).
Clinical and audiologic evaluation of patients with known auditive neuropathy / auditory dys-synchrony (ANAD) or recently diagnosed congenital severe to profound hearing loss (HL), and assessing genetic analysis looking for DFNB9. The investigators expect to compile genotypic and phenotypic characterization of 25 children with DFNB9 within 4 years.
详细描述
ANAD is not a rare type of hearing loss. Nevertheless, its profile is heterogeneous and the pathology remain underdiagnosed. The investigators will screen all new patients with bilateral severe to profound HL, looking for DFNB9. They will analyse their electrophysiology (auditory potential, and otoacoustic emission), and their audio-vestibular profile, at an early stage and one year after inclusion. All patients will be seen in the genetic clinic. Also, the investigators will analyse all patients with ANAD profile and patients known with ANAD.
All informations will provide precise data base to allow a better understanding of the pathology. It might also lead to select the best candidates for future gene therapy
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 年龄范围
- — 至 25 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •G1a / Inclusion Criteria:
- •Child from 0 to 3 years old
- •Child with severe to profound bilateral deafness newly diagnosed with:
- •Average hearing threshold> 70 decibel on each ear
- •and / or no response to 70 decibel PEA on each ear
- •and / or no response to ASSR
- •G1b / Inclusion Criteria:
- •Child under 16
- •Child with newly diagnosed hearing neuropathy : tonal/vocal dissociation (when this is possible), and/or modified PEA, and/or discordant ASSR, and/or OEA present.
- •G2 / Inclusion Criteria:
- •Adult patient under 25 or child
- •Patient with deafness with auditory neuropathy
- •Patient known to have 1 or 2 mutations of the otoferlin protein
排除标准
- •Other type of deafness such as : unilateral deafness, deafness of transmission, malformation syndrome, known genetic familial deafness not DFNB9
- •Patient without medical insurance
- •Lack of consent to DNA sampling, of one or both biological parents (consent of the care)
研究组 & 干预措施
G1a
infants under 3 years deaf severe to deep
干预措施: Genetic analysis (Genetic)
G1b
children under 16 years of age with audiologically proven auditory neuropathy
干预措施: Data collection (Other)
G1a
infants under 3 years deaf severe to deep
干预措施: Data collection (Other)
G1b
children under 16 years of age with audiologically proven auditory neuropathy
干预措施: Genetic analysis (Genetic)
G2
patients <25 years old with one or two Otoferlin mutations
干预措施: Data collection (Other)
结局指标
主要结局
Prevalence of deafness caused by DFNB9
时间窗: 3 months
Prevalence and type of bi-allelic pathogenic changes Otoferlin Molecular analysis will be done by Next Generation Sequencing Capture method
次要结局
- Audiological characteristics in free fields at diagnosis(1 day)
- Audiological characteristics in separate ears at diagnosis(1 day)
- Audiological characteristics in separate ears at 12 months or last record(12 months)
- Audiological characteristics in free fields at 12 months or last record(12 months)
- Electrophysiological characteristics : auditory evoked potentials (PEA) at diagnosis(1 day)
- Electrophysiological characteristics : auditory evoked potentials (PEA) at 12 months or last record(12 months)
- Electrophysiological characteristics : otoacoustic emissions (OEAs) at 12 months or last record(12 months)
- Electrophysiological characteristics : auditory Steady State Response (ASSR) at diagnosis(1 day)
- Vestibular characteristics : per-oral endoscopic myotomy (PEOM) at diagnosis(1 day)
- Electrophysiological characteristics : auditory Steady State Response (ASSR) at 12 months or last record(12 months)
- Electrophysiological characteristics : otoacoustic emissions (OEAs) at diagnosis(1 day)
- Vestibular characteristics : per-oral endoscopic myotomy (PEOM) at 12 months or last record(12 months)
- Vestibular characteristics : video Head Impulse Test (VHIT) at diagnosis(1 day)
- Clinical development scale at diagnosis(1 day)
- Vestibular characteristics : video Head Impulse Test (VHIT) at 12 months or last record(12 months)
- Caloric Tests at diagnosis(1 day)
- Clinical development scale at 12 months or last record(12 months)
- Caloric Tests at 12 months or last record(12 months)