评估听力水平和前庭功能以及对DFNA9 (预先) 症状患者的认知表现的影响:前性纵向研究 (Rosetta研究) 的协议
Hanne Gommeren1,2, Julie Moyaert3,2, Joyce Bosmans3
1Experimental Laboratory of Translational Neurosciences and Dento-Otolaryngology, University of Antwerp Faculty of Medicine and Health Sciences, Antwerp, Belgium hanne.gommeren@uantwerpen.be.
BMJ open
|September 14, 2023
概括
这项研究调查了听力和前庭功能变化如何影响DFNA9综合征患者的认知. 了解这些变化可以为内耳疾病的基因疗法定时提供信息.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 遗传学 是一个
- 耳鼻喉科 耳鼻喉科 耳鼻喉科
背景情况:
- 未经治疗的听力损失是痴呆症的一个显著可修改的风险因素.
- 静脉管功能障碍可能会加速认知能力下降.
- 耳聋自体主导9型 (DFNA9) 患者表现出渐进的听力损失,耳道病变和认知缺陷.
研究的目的:
- 追踪COCH基因中的 (预) 症状p.Pro51Ser突变载体中听力和前庭功能的演变.
- 评估这些功能变化对认知表现和生活质量的影响.
- 确定针对内耳疾病的潜在基因疗法的最佳治疗窗口.
主要方法:
- 这是一项前性纵向研究,对40名DFNA9患者和一个认知健康的对照组进行了研究.
- 在基线,一年和两年的随访期间收集数据.
- 主要结果:针对听力损伤进行调整的可重复的神经心理状态评估电池 (RBANS);次要结果:皮质听力唤起潜能,前庭评估,生活质量问卷.
主要成果:
- 数据收集正在进行中;结果正在等待.
结论:
- 研究结果将阐明内耳功能障碍与DFNA9.9认知衰退之间的关系.
- 预计结果将指导内耳疾病的基因疗法干预措施的开发和时间.
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