Utility of PCD Diagnostics to Improve Clinical Care

NCT05889013 | Recruiting FDA Device

• 1 other identifier: 23-052-CCMC
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 1

Brief 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).

Conditions

Primary Ciliary Dyskinesia

Keywords

PCD; nasal nitric oxide testing

Outcome Measures

Primary Outcomes (2)

• Creation of Nasal NO REDCap registry

  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

  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 Outcomes (1)

• Refinement and Improvement of PCD Diagnostic Testing

  1-2 years

Study Arms (1)

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

Interventions

Nasal Nitric Oxide testing DEVICE

Collection of already performed clinical data and nNO testing

Also known as: nNO testing

Nasal Nitric Oxide

Eligibility Criteria

• Age: 2 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Connecticut Children's Medical Center: lead
• UConn Health: collaborator

Study Sites (1)

Pulmonary Division

Hartford, Connecticut, 06111, United States

RECRUITING

MeSH Terms

Conditions

Ciliary Motility Disorders

Condition Hierarchy (Ancestors)

Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Ciliopathies; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Study Officials

• Melanie S Collins, MD

  Connecticut Children's Medical Center

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Melanie S Collins, MD

CONTACT

860-545-9440; mcollin@connecticutchildrens.org

Sigrid M Almeida, BS

CONTACT

8608375343; salmeida@connecticutchildrens.org

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Target Duration: 3 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 25, 2023
• First Posted: June 5, 2023
• Study Start: October 17, 2023
• Primary Completion (Estimated): December 1, 2027
• Study Completion (Estimated): December 1, 2028
• Last Updated: September 22, 2025

Record last verified: 2025-09

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)