Trial Number

078-20

Condition

Primary ciliary dyskinesia 

Participant Age Range

21 years and younger

Participant Gender

Any

Enrolling Participants

Yes

Overview

Establishing Nasal Nitric Oxide (nNO) Testing for Primary Ciliary Dyskinesia (PCD) Diagnosis and Clinical Care

Primary Ciliary Dyskinesia (PCD) is a disease of dysfunctional cilia that results in many different clinical manifestations, but chief among them is impaired airway clearance that causes substantial morbidity from recurrent pneumonia and ultimately irreversible bronchiectasis. The treatment for this condition largely focuses on augmenting airway clearance and appropriate use of antimicrobial therapies, in conjunction with monitoring for evidence of pulmonary impairment.  Thus, early diagnosis of PCD is essential to prevent progressive decline in lung function. Nasal nitric oxide (nNO) testing is a recently established modality that is rapidly changing the approach to PCD diagnosis by enabling non-invasive screening for PCD in an outpatient setting.  Individuals with PCD have characteristically low levels of nasal NO. We aim to establish a PCD clinical center with diagnostic capabilities, including nasal nitric oxide testing as we hypothesize that refinement of diagnostic algorithms can improve the approach and care of children with possible PCD.

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