A Longitudinal, Observational Study of Primary Ciliary Dyskinesia in Adults

The goal of this observational study is to characterize clinical measures and biomarkers of airway disease in adults with primary ciliary dyskinesia (PCD) and in a group of healthy volunteers (HV) to establish normative values. Lung function, mucociliary clearance, radiological findings, and clinical findings will be assessed. Furthermore, quality of life will be assessed using QOL-PCD, a disease specific questionnaire.

Inclusion Criteria:PCD diagnosis with confirmation of 2 identified pathogenic genetic variants within 1 of the following ultrastructure variants:DNAI1 ODA defectOther ODA defectIDA - MTD defectRS defectInformed consentExclusion Criteria:Are a current smoker (e-cigarette, tobacco, or marijuana)Are a former smoker who discontinued smoking <1 year prior to enrollment or has a cumulative 1+ pack-year smoking historyHave a recent stable forced expiratory volume in one second (FEV1) <35% predictedHave contraindications for MRI studies (implanted devices/materials; inability to tolerate; claustrophobia or severe anxiety that would preclude MRI/imaging)Have had a significant clinical radiation exposure (as determined by the investigator) within the past 6 months. Potential participants who have had a chest CT within the past 6 months may be eligible to be enrolled and their clinical CT will be utilized as the baseline for this studyAre pregnant or breastfeedingHave any comorbidities likely to impact lung function (e.g., complex congenital heart disease, severe scoliosis, diseases involving immune dysregulation, lung transplantation, lung lobectomy, end-stage renal disease, or poor overall health status).