Advances in Health-Related Quality of Life in Primary Ciliary Dyskinesia.

INTRODUCTION: Primary ciliary dyskinesia (PCD) is a rare, genetic disorder characterized by impaired mucociliary clearance and progressive sino-pulmonary disease. Individuals have chronic, progressive chest symptoms throughout life with wet cough, frequent exacerbations and bronchiectasis. Traditional measures such as lung function and imaging do not capture the impact of PCD from the patient's perspective. This article examined health-related quality of life (HRQoL) measures and their applications in PCD. METHODS: Published literature on HRQoL in children, adolescents and adults with PCD was reviewed. Several databases were searched, including PubMed, PsychInfo, Embase, Elsevier's Scopus and ClinicalTrials.gov to identify measures of HRQoL and their outcomes. The QOL-PCD is the only condition-specific HRQoL measure developed using FDA guidelines. Associations between QOL-PCD scores and physical, mental health, and clinical trial outcomes were evaluated. RESULTS: Substantial progress has been made in developing reliable and valid HRQoL measures for PCD, revealing how PCD affects the progression of pulmonary, sinus, oto-rhinologic symptoms, and treatment burden across the lifespan. Although upper and lower respiratory symptoms worsen with time, ear and hearing symptoms improve moderately in adolescence. Disease severity increases in adulthood as evidenced by lower scores across most HRQoL domains. Strong associations were found between QOL-PCD scores and physical, psychological, and social functioning, however, its sensitivity to change in clinical trials has not been demonstrated. Additional research is needed to identify the minimal important difference score on the QOL-PCD to better interpret meaningful changes in interventional trials. CONCLUSIONS: The QOL-PCD was developed using the FDA framework that seeks patient input across all phases of development, including qualitative interviews, cognitive testing, and psychometric validation. Including these tools in clinical care, PCD registries and as outcomes in clinical trials is recommended. Longitudinal trajectories of HRQoL, linking genotypes to HRQoL outcomes, and evaluation of interventions targeting chronic cough, ENT symptoms, treatment burden and psychological functioning are needed. Embedding QOL-PCD measures in trials ensures that new therapies reflect what matters most to patients and families.