Research priorities in primary ciliary dyskinesia – patients’ perspective

Introduction Patients can provide important perspectives for health research that may differ from those of health care professionals. This is particularly important for a rare disease with many knowledge gaps like primary ciliary dyskinesia (PCD). We aimed to identify research priorities in PCD from the patients’ perspective in a mixed-methods study.

Method We conducted, transcribed and coded in-depth semi-structured interviews with adults and teens with PCD or parents of children with PCD. Invited participants included purposefully selected patients from the Swiss PCD registry and volunteers from PCD support UK. We thematically analysed all interview data from 9 adults, 9 parents and 4 teens.

Results The main theme we identified as priority for PCD research was evaluation and development of PCD-specific treatments that would either restore or repair cilia function, or treat upper and lower respiratory symptoms, and improve lung function but also evaluation of currently prescribed treatments e.g. respiratory physiotherapy and inhalations, in clinical trials. Research on areas besides the lungs was highlighted including research on ENT symptoms, particularly hearing problems, fertility, mental health, and treatment burden. Other themes covered were improving PCD diagnosis, understanding of disease progression and disease severity, and the impacts of environmental or lifestyle changes on symptoms.

Next steps These results will be used to develop an online survey that will be translated in multiple languages and circulated worldwide in collaboration with the BEAT-PCD network, the European Lung Foundation, and PCD patient advocacy groups. Final study results will help PCD researchers to establish research priorities, addressing patients’ wishes and needs.

Funding SNF PZ00P3_185923, Foundation Johanna Dürmüller-Bol

Publication History

Article published online:
21 September 2022