Goutaki Myrofora, Lam Yin Ting, Rubbo Bruna, Chalmers James D, Kouis Panayiotis, Marsh Gemma, Papon Jean-François, Raidt Johanna, Robinson Phil, Behan Laura, Lucas Jane S
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.
ERJ Open Res. 2024 Sep 30;10(5). doi: 10.1183/23120541.00026-2024. eCollection 2024 Sep.
Despite advances in primary ciliary dyskinesia (PCD) research, many questions remain; diagnosis is complex and no disease-specific therapies exist. Using a mixed-methods approach, we aimed to identify priorities for clinical and epidemiological research and explore barriers to research.
To obtain rich, relevant, diverse data, we performed in-depth semi-structured interviews with PCD specialists selected using purposive sampling. We transcribed, coded and analysed interview data using thematic analysis. Based on interview themes that we identified, we developed an anonymous survey and circulated it widely through the BEAT-PCD network.
We interviewed 28 participants from 15 countries across different disciplines and expertise levels. The main themes identified as priorities for PCD research were improving diagnosis; understanding prevalence and disease course; phenotypic variability; disease monitoring; treatment strategies; clinical trial end-points; and poorly researched areas. In total, 136 participants (49% paediatric pulmonologists) from 36 countries completed the survey. Most commonly reported barriers for research were low awareness about PCD and difficulties securing funding - in more than one-third of cases, participants reported undertaking predominantly unfunded research. Research questions ranked highest included priorities related to further improving diagnosis, treating PCD, managing upper and lower airway problems, and studying clinical variability and disease prognosis.
We need to overcome barriers of limited funding and low awareness and promote collaborations between centres, disciplines, experts and patients to address identified PCD priorities effectively. Our results contribute to the ongoing efforts of guiding the use of existing limited research resources and setting up a roadmap for future research activities.
尽管原发性纤毛运动障碍（PCD）研究取得了进展，但仍存在许多问题；诊断复杂，且不存在针对该疾病的特异性疗法。我们采用混合方法，旨在确定临床和流行病学研究的重点，并探讨研究障碍。
为获取丰富、相关且多样的数据，我们对采用目的抽样法选取的PCD专家进行了深入的半结构化访谈。我们使用主题分析法对访谈数据进行转录、编码和分析。基于我们确定的访谈主题，我们编制了一份匿名调查问卷，并通过“战胜PCD”网络广泛分发。
我们采访了来自15个国家、不同学科和专业水平的28名参与者。确定为PCD研究重点的主要主题包括改善诊断；了解患病率和疾病进程；表型变异性；疾病监测；治疗策略；临床试验终点；以及研究较少的领域。来自36个国家的136名参与者（49%为儿科肺病专家）完成了调查。最常报告的研究障碍是对PCD的认识不足以及获得资金困难——在超过三分之一的案例中，参与者报告主要开展无资金支持的研究。排名最高的研究问题包括与进一步改善诊断、治疗PCD、管理上呼吸道和下呼吸道问题以及研究临床变异性和疾病预后相关的重点。
我们需要克服资金有限和认识不足的障碍，促进各中心、学科、专家和患者之间的合作，以有效解决已确定的PCD重点问题。我们的研究结果有助于持续努力指导现有有限研究资源的使用，并为未来的研究活动制定路线图。
