A Clinical Study to Gather Data on the Utility of Tests That Are Used to Make a Diagnosis of Primary Ciliary Dyskinesia (PCD)
Connecticut Children's Medical Center
Summary
This cross-sectional and longitudinal observational study is to gather data on the utility of tests that are used to make a diagnosis of primary ciliary dyskinesia (PCD). There is new testing available, called nasal nitric oxide testing, that non-invasively measures nitric oxide levels in the sinus cavity. Individuals with PCD characteristically have low levels, but this testing does not have extensive data from everyday clinical practice. The objective of this proposal is to improve the diagnostic approach to children and adults with clinical concerns for primary ciliary dyskinesia (PCD).
Description
This is an observational study to gather data on the utility of tests that are used to make a diagnosis of primary ciliary dyskinesia (PCD). Participant selection will be on a referral basis for the consideration of a clinical suspicion for PCD. Participants will be identified by pulmonary providers that consider testing for PCD based on the clinical symptoms of the participant. These providers will then refer for enrollment in the study based on the clinical considerations for a diagnosis of PCD. Participants will be consented during the time of testing at the Pulmonary department. Any patien…
Eligibility
- Age range
- 2+ years
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: * Age ≥ 2 years of age * Must have two of the following clinical history points: * Neonatal respiratory distress * Chronic nasal congestion/runny nose * Chronic cough * Situs/laterality defects * Bronchiectasis * Ability to provide informed consent or consent of parent/guardian and ass Exclusion Criteria: * Recent history of sinus surgery or bloody nose in the past week * Age \< 2 years of age * Inability to tolerate probe in nose * Sinusitis or other respiratory exacerbation currently being treated with antibiotics * Admitted to hospital for respiratory exacerbation (in…
Interventions
- DeviceNasal Nitric Oxide testing
Collection of already performed clinical data and nNO testing
Location
- Pulmonary DivisionHartford, Connecticut