Utility of PCD Diagnostics to Improve Clinical Care (PCD)

September 30, 2026 updated by: Connecticut Children's Medical Center

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

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).

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

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.

Study Type

Observational

Enrollment (Estimated)

50

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

2 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

The target population are ages 2 and up. 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 thenrefer for enrollment in the study based on the clinical considerations for a diagnosis of PCD.

Description

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 (inpatient status)
  • Inability to understand the requirements of the study or be unwilling to provide written informed consent (as evidenced by signature on an informed consent document approved by the IRB)
  • Any other reason for which the study investigators feel the patient is not a good candidate to complete the testing

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: COHORT
  • Time Perspectives: CROSS_SECTIONAL

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Nasal Nitric Oxide

Participants who are referred by his/her clinician for nasal NO testing and meet the inclusion and exclusion criteria will undergo testing. Clinical information regarding prior diagnostic testing will be collected at time of enrollment. Participants that have a confirmed diagnosis of PCD by genetics or ciliary biopsy at time of study entry
Device: Nasal Nitric Oxide testing

Collection of already performed clinical data and nNO testing

Other Names:
  • nNO testing

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Creation of Nasal NO REDCap registry
Time Frame: 2-3 years

To establish a research registry to characterize the features of individuals that undergo PCD diagnostic testing at Connecticut Children's Medical Center and UCONN.
2-3 years
Evaluation of utility of PCD diagnostic testing
Time Frame: 2-3 years

To evaluate the utility of PCD diagnostic testing, including potential use of nasal nitric oxide in comparison to genetic testing and ciliary biopsy, in pulmonary practice at Connecticut Children's Medical Center and UCONN.
2-3 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Refinement and Improvement of PCD Diagnostic Testing
Time Frame: 1-2 years

To refine and improve current diagnostic processes for PCD diagnosis at CCMC using information gathered from the research registry established through Primary aims 1 and 2.
1-2 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Connecticut Children's Medical Center

Collaborators

UConn Health

Investigators

  • Principal Investigator: Melanie S Collins, MD, Connecticut Children's Medical Center

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

October 17, 2023

Primary Completion (Estimated)

December 1, 2027

Study Completion (Estimated)

December 1, 2028

Study Registration Dates

First Submitted

May 25, 2023

First Submitted That Met QC Criteria

June 2, 2023

First Posted (Actual)

June 5, 2023

Study Record Updates

Last Update Posted (Actual)

October 5, 2026

Last Update Submitted That Met QC Criteria

September 30, 2026

Last Verified

September 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 23-052-CCMC

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

Yes

product manufactured in and exported from the U.S.

Yes

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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