Novel Use of Combined High-Speed Video Microscopy and Nasal Nitric Oxide Screening for Identification of Primary Ciliary Dyskinesia in Adult Bronchiectasis
Researching Primary Ciliary Dyskinesia in Adult Bronchiectasis
Mike Davis
Primary Investigator
Brief description of study
Bronchiectasis is a chronic respiratory disease characterized by irreversible airway damage and recurrent infection, and many patients remain without an identifiable cause even after standard testing. Primary ciliary dyskinesia (PCD), a genetic disorder that causes bronchiectasis due to defecttive mucus clearance in the lungs, is substantially underdiagnosed in adult bronchiectasis patients based on recent genetic sutdies. Identifying unrecognized PCD in adult bronchiectasis patients is essential because it would enable more precise clinical management, guide genetic counseling, and ensure timely access to future therapies, all of which motivate the need for this study.
Detailed description of study
Nasal passage brush samples will be obtained. Subjects may participate multiple times, particularly if issues arise with specimen processing, providing the same type of sample, but each time they participate, they will need to sign a new informed consent form. All study procedures will take place within clinical and research spaces at Indiana University that are routinely used for pulmonary research and diagnostic evaluation.
Eligibility of study
You may be eligible for this study if you meet the following criteria:
- Conditions: Bronchiectasis
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Age: 18 years or above
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Gender: All
Inclusion Criteria
Adults (≥18) with CT-confirmed bronchiectasis
Exclusion Criteria
Pre-existing diagnosis of cystic fibrosis
Pre-existing diagnosis of primary ciliary dyskinesia
Inability to perform testing
Refusal of consent
This study investigates a possible genetic disorder called Primary Ciliary Dyskinesia (PCD) in adults with bronchiectasis, a lung disease where the airways are damaged and infected repeatedly. PCD happens when tiny structures called cilia, which move mucus out of the lungs, do not work right. This can lead to mucus buildup and lung problems. The study aims to find out how common PCD is in these patients.
Participants will have samples taken from their nasal passages using a brush. These samples will help researchers learn more about PCD. If there are problems with the samples, participants may need to provide new ones. All study procedures will be done at Indiana University in areas used for lung research.
- Who can participate: Adults aged 18 and older with bronchiectasis confirmed by a CT scan can participate. However, those with a pre-existing diagnosis of cystic fibrosis or primary ciliary dyskinesia, or those unable to perform testing or refusing consent, cannot join.
- Study details: Participants will provide nasal passage samples, which may be required multiple times if issues arise with the samples. Each time they participate, they must sign a new consent form.