Patients’ research priorities and participation in primary ciliary dyskinesia research

Abstract Introduction People living with chronic diseases can provide a unique perspective for research that often differs from that of healthcare professionals. This is particularly important in rare diseases like primary ciliary dyskinesia (PCD), with many knowledge gaps and limited research resources. We aimed to assess participation of patients and caregivers in PCD research and identify their research priorities in a mixed- method study. Methods We conducted in-depth, semi-structured interviews with adults and adolescents with PCD, and caregivers of children with PCD. After verbatim transcription and thematic analysis, we developed an anonymous online survey, translated it into 8 languages, and circulated it widely in collaboration with PCD support groups worldwide and the European Lung Foundation. Results The findings from the interviews identified key areas to be explored further though the survey including: developing treatments for PCD and increasing knowledge about different topics such as mental health, fertility, upper airway problems, treatment burden, and impact of environment and lifestyle. 399 participants completed the online survey from 29 countries with median age 41 (IQR 33–49), 74% were female. 180 participants (45%) had participated in research before. For the remaining, the main reason for no participation was not being informed about studies (65%). 172 (43%) preferred regular research updates during a study. The top three ranked research priorities were 1) finding a cure to restore ciliary function; 2) developing treatments to improve lung function and reduce infections and mucus production; 3) finding the best way to manage the disease using existing medication. Other priorities were: involving more doctors and people with PCD in research, raising awareness of the condition, increasing knowledge about mental health and fertility. Conclusion Our findings will help the PCD research community to improve patient engagement in research and to draw common priorities together with the people who live with PCD and their families. Key message What is already known on this topic In rare diseases, such as primary ciliary dyskinesia (PCD), there are many knowledge gaps, but limited resources, and research priorities should take into consideration topics concerning patients. What this study adds We found that people with PCD and their caregivers are motivated to participate in research when they are informed appropriately and invited, and they would like to receive research updates from studies in which they participate. Top ranked research priorities relate to developing new treatments or improving the improved evidence-base for existing treatments to help better manage the condition or to even cure their disease. How this study might affect research, practice or policy By focussing on topics prioritised by people with PCD participation in research may improve. Together with already published research priorities of healthcare professionals, our results will contribute to developing a common roadmap for future activities of the PCD research community.