Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland
Paediatric Respiratory Medicine, Children's University Hospital of Bern, University of Bern, Bern, Switzerland.
BMJ Open. 2021 Oct 11;11(10):e051433. doi: 10.1136/bmjopen-2021-051433.
Primary ciliary dyskinesia (PCD) is a rare, genetic, multiorgan disease with an estimated prevalence of 1 in 10 000. It affects mainly the upper and lower airways due to impaired mucociliary clearance. Almost all patients have sinonasal or otologic (ear-nose-throat, ENT) problems, although the ENT clinical phenotype may present great variability. Despite that, data on PCD ENT manifestations are scarce and based on small single-centre studies. To date, we know little about the spectrum and severity of PCD ENT disease, its association with lung disease, its course over life and its determinants of prognosis.This study protocol describes the aims and methods of the first prospective, observational, multinational cohort study focusing on ENT disease in patients with PCD.
The ENT prospective international cohort of patients with PCD (EPIC-PCD) is a prospective standardised observational clinical cohort set up as a multinational multicentre study, embedded into routine patient care. It aims to longitudinally characterise ENT disease in patients with PCD and its association with lung disease, and to identify determinants of its prognosis. Patients of all ages, diagnosed with PCD who undergo an ENT clinical assessment at least once a year at one of the participating centres will be invited to participate. Collected data include diagnostic test results, results of ENT examinations, lung function measurements, information on management of ENT disease and patient-reported data on clinical symptoms and health-related quality of life (QoL). Data are collected using the standardised PCD-specific FOLLOW-PCD form and the validated QoL-PCD questionnaire.
The study has been reviewed and approved by the Human Research Ethics Committees at all participating centres, based on local legislation. The results of the study will be published in scientific journals, presented at scientific conferences and disseminated to participants and national patient organisations.
NCT04611516.
原发性纤毛运动障碍（PCD）是一种罕见的遗传性多器官疾病，估计发病率为每 10000 人中 1 人。由于黏液纤毛清除功能受损，它主要影响上、下呼吸道。几乎所有患者都有鼻旁窦或耳-鼻-喉（ENT）问题，尽管 ENT 临床表型可能存在很大差异。尽管如此，关于 PCD ENT 表现的数据很少，并且基于小型单中心研究。迄今为止，我们对 PCD ENT 疾病的范围和严重程度、与肺部疾病的关联、其在整个生命过程中的过程及其预后的决定因素知之甚少。本研究方案描述了首次针对 PCD 患者 ENT 疾病的前瞻性、观察性、多国队列研究的目的和方法。
ENT 前瞻性国际 PCD 患者队列（EPIC-PCD）是一项作为多国多中心研究设立的前瞻性标准化观察性临床队列，嵌入到常规患者护理中。它旨在对 PCD 患者的 ENT 疾病进行纵向特征描述及其与肺部疾病的关联，并确定其预后的决定因素。将邀请所有年龄的被诊断为 PCD 的患者参加，这些患者在参与中心之一每年至少进行一次 ENT 临床评估。收集的数据包括诊断测试结果、ENT 检查结果、肺功能测量结果、ENT 疾病管理信息以及患者报告的临床症状和健康相关生活质量（QoL）数据。数据使用标准化的 PCD 特异性 FOLLOW-PCD 表格和经过验证的 QoL-PCD 问卷进行收集。
根据当地法规，所有参与中心的人类研究伦理委员会对该研究进行了审查和批准。该研究的结果将发表在科学期刊上，在科学会议上展示，并分发给参与者和国家患者组织。
NCT04611516。
