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)

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: Primary Ciliary Dyskinesia
• Intervention / Treatment: Device: Nasal Nitric Oxide testing

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
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Melanie S Collins, MD; Phone Number: 860-545-9440; Email: mcollin@connecticutchildrens.org
• Study Contact Backup: Name: Sigrid M Almeida, BS; Phone Number: 8608375343; Email: salmeida@connecticutchildrens.org

Study Locations

• United States
  • Connecticut
    • Hartford, Connecticut, United States, 06111
      • Recruiting
      • Pulmonary Division
      • Contact: Melanie S Collins, MD; Phone Number: 860-545-9440; Email: mcollin@connecticutchildrens.org
      • Contact: Sigrid M Almeida, BS; Phone Number: 8608375343; Email: salmeida@connecticutchildrens.org

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• 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

How is the study designed?

Number of groups / cohorts

1

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	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 Outcome Measures

Outcome Measure	Measure Description	Time Frame
Refinement and Improvement of PCD Diagnostic Testing	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

• Sponsor: Connecticut Children's Medical Center
• Collaborators: UConn Health
• Investigators: Principal Investigator: Melanie S Collins, MD, Connecticut Children's Medical Center

Study record dates

Study Major Dates

• Study Start (Actual): September 27, 2023
• Primary Completion (Estimated): June 1, 2024
• Study Completion (Estimated): June 1, 2024

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 2, 2023
• Last Update Submitted That Met QC Criteria: September 28, 2023
• Last Verified: August 1, 2023

More Information

Terms related to this study

• Keywords: PCD; nasal nitric oxide testing
• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Respiratory Tract Diseases; Neurologic Manifestations; Congenital Abnormalities; Genetic Diseases, Inborn; Otorhinolaryngologic Diseases; Movement Disorders; Abnormalities, Multiple; Ciliopathies; Dyskinesias; Ciliary Motility Disorders; Physiological Effects of Drugs; Neurotransmitter Agents; Molecular Mechanisms of Pharmacological Action; Vasodilator Agents; Autonomic Agents; Peripheral Nervous System Agents; Protective Agents; Bronchodilator Agents; Anti-Asthmatic Agents; Respiratory System Agents; Antioxidants; Free Radical Scavengers; Endothelium-Dependent Relaxing Factors; Gasotransmitters; Nitric Oxide
• Other Study ID Numbers: 23-052

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: No
• product manufactured in and exported from the U.S.: Yes