Utility of PCD Diagnostics to Improve Clinical Care

Primary Ciliary Dyskinesia Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05889013
• Other study ID #: 23-052
• Status: Recruiting
• Start date: September 27, 2023
• Est. completion date: June 2024

Study information

• Verified date: August 2023
• Source: Connecticut Children's Medical Center
• Contact: Melanie S Collins, MD
• Phone: 860-545-9440
• Email: mcollin[@]connecticutchildrens.org
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 50
• Est. completion date: June 2024
• Est. primary completion date: June 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: 2 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Ciliary Motility Disorders
• Dyskinesias
• Primary Ciliary Dyskinesia

Intervention

Device:
• Nasal Nitric Oxide testing
Collection of already performed clinical data and nNO testing

Locations

Country	Name	City	State
United States	Pulmonary Division	Hartford	Connecticut

Sponsors (2)

Lead Sponsor	Collaborator
Connecticut Children's Medical Center	UConn Health

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	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	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