Utility of PCD Diagnostics to Improve Clinical Care

Description

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

Study Overview

Study Details

Study overview

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).

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

Utility of PCD Diagnostics to Improve Clinical Care

Condition
Primary Ciliary Dyskinesia
Intervention / Treatment

-

Contacts and Locations

Hartford

Pulmonary Division, Hartford, Connecticut, United States, 06111

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.

For general information about clinical research, read Learn About Studies.

Eligibility 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
  • * 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

Ages Eligible for Study

2 Years to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Connecticut Children's Medical Center,

Melanie S Collins, MD, PRINCIPAL_INVESTIGATOR, Connecticut Children's Medical Center

Study Record Dates

2025-12