NCT05889013

Utility of PCD Diagnostics to Improve Clinical Care

A Clinical Study to Gather Data on the Utility of Tests That Are Used to Make a Diagnosis of Primary Ciliary Dyskinesia (PCD)

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 50 (estimated)
• Sponsor: Connecticut Children's Medical Center · Academic / Other
• Sex: All
• Age: 2 Years
• Healthy volunteers: Not accepted

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).

Detailed 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 patient referred by a clinician for concerns for PCD, including those who have had PCD genetics sent, or a ciliary biopsy performed will be enrolled in the study. In addition, any participant who is referred for nasal nitric oxide testing and meets the inclusion and exclusion criteria for this testing, will also need to provide informed consent and be enrolled in the Nasal NO REDCap registry. This equipment is not currently FDA approved or CLIA certified for PCD diagnostic testing and therefore referring clinicians will be informed that the results of this test should not influence clinical decision making regarding the diagnosis of PCD. However, there is growing evidence that this testing has utility as a non-invasive screening tool for PCD and continued data from the general pediatric pulmonary population is needed.

Conditions

• Primary Ciliary Dyskinesia

Interventions

Type	Name	Description
DEVICE	Nasal Nitric Oxide testing	Collection of already performed clinical data and nNO testing

Timeline

• Start date: 2023-10-17
• Primary completion: 2027-12-01
• Completion: 2028-12-01
• First posted: 2023-06-05
• Last updated: 2025-09-22

Locations

1 site across 1 country: United States

Regulatory

• FDA-regulated device study