Collection of Nasal Nitric Oxide in Persons with Suspected Cases of Primary Ciliary Dyskinesia

Studying Ways to Find Primary Ciliary Dyskinesia

E
Evans Machogu, MD

Primary Investigator

Enrolling By Invitation
100 years or below
All
Phase N/A
300 participants needed
1 Location

Brief description of study

Primary ciliary dyskinesia (PCD) is a genetic condition in which the cilia lining the airway, ears, and sinuses function abnormally. When functionality is abnormal, a buildup of bacteria and debris can accumulate in the lungs, airway, and sinuses, leading to an increased chance of developing infection and bronchiectasis. PCD is difficult to diagnose and because diagnostic tests are not readily available, PCD is often misdiagnosed so many people that have PCD do not know it. The primary purpose of this study is to provide diagnostic evaluation of patients with rare diseases of the airway, specifically PCD. The purpose of this study is to provide an evaluation of patients with rare diseases of the airways in an attempt to diagnosis their issue.
 
THIS STUDY IS ENROLLING BY INVITATION ONLY - Potential participants suspected of having PCD will be referred by their physicians and/or their healthcare facility to the study.

Detailed description of study

Nasal Nitric Oxide measurement might be obtained at any visits through the use of a nasal NO measuring system (Eco Physics CLD 88 EX, Eco Physics Exhalyzer D, and Eco Physics DENOX 88). The nasal nitric oxide measurement will be obtained by placing or holding a small tube with a guard on the end in the subject's nose. If possible, we will have the subject blow out against some sort of resistance (such as a party favor). A measurement will be taken during this time. We will repeat this test several times in each nostril. If the subject has trouble blowing against resistance, we will place or hold the tube in the subject's nose while he or she breathes normally. A sample of the subject's blood will be collected one time only and will be de-identified and securely stored for future testing including possible genetic testing for PCD.

Eligibility of study

You may be eligible for this study if you meet the following criteria:

  • Conditions: Primary ciliary dyskinesia (PCD, Riley
  • Age: 100 years or below
  • Gender: All

Inclusion criteria:
  • Age 0-100 years 
  • Suspicion of PCD or confirmed case of ultra-structural ciliary abnormalities on EM

The purpose of this study is to investigate diagnostic methods for a condition called Primary Ciliary Dyskinesia (PCD). PCD is a genetic condition where tiny hair-like structures in the airways, called cilia, do not work properly. This can lead to infections in the lungs and other areas because the body cannot clear out bacteria and debris effectively.

In this study, participants will have their nasal nitric oxide levels measured. This involves placing a small tube in the nose and taking measurements while the participant blows against resistance or breathes normally. Additionally, a blood sample will be collected for possible genetic testing. These procedures help in evaluating the presence of PCD.

  • Who can participate: Individuals from birth to 100 years old who are suspected to have PCD or have confirmed ciliary abnormalities are eligible.
  • Study details: Participants will have nasal nitric oxide measurements taken and a blood sample collected for genetic testing. These procedures are part of the evaluation process for PCD. The study is enrolling by invitation only.
Updated on 11 Dec 2025. Study ID: PPUL-IIR-1395, 1211010065
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Interested in the study?

This study is accepting only persons who receive care at a certain clinic or doctor or who are part of an invited group. Questions about this study can be directed to the study team listed in the description or contact your doctor to see if you are eligible.

Accepting Referrals by Invitation Only