Grant: Travel Awards - Institute Community Support

Primary ciliary dyskinesia (PCD) is a life-shortening, genetic disorder affecting 1 in 7500 individuals and impacts the respiratory, auditory, olfactory and reproductive systems. Historically for patients with PCD, disease assessment failed to account for changes in a patient's daily physical, respiratory or social functioning. Between 2015 and 2017, quality of life questionnaires (QOL-PCD) for adults (18+), adolescents (13-17) or children with caregiver proxy (6-12) were created to comprehensively assess patient-reported outcome measures. In 2023, the BEAT-PCD consensus statement recommended using validated QOL-PCD instruments as a core outcome for clinical trials. Our goal was to evaluate current implementation of the QOL-PCD using data taken from completed QOL-PCD requests. On average, there were 6 requests for the QOL per year between 2018 and 2023, however requests increased 136% in 2024. The QOL-PCD is used mainly for academic research purposes. We estimate that 2500 patients worldwide have been assessed using the QOL-PCD questionnaires, including 1339 adults, 586 teenagers and 594 children. The QOL-PCD has been distributed most to the USA, Germany and Turkey, although the QOL has been utilized on every continent.Of 15 available languages, the most common are English (55%) and German (21%). Latin American Spanish is the third most requested language, however there is no validated translated QOL-PCD. We conclude that while QOL-PCD comprehensively assesses the impact of PCD throughout life and its use has increased sharply in the past year, future validated translations of the QOL-PCD, such as Latin American Spanish will improve utilization in the Global South. Outreach to current users of the QOL tool to increase access to their data will also facilitate future development of this important tool.