Research Studies

A collaboration between pulmonologists and immunologists across the consortium, the project will systematically characterize the clinical phenotype and laboratory profile of patients with chronic suppurative respiratory diseases that are typically referred to pediatric and adult pulmonologists. A primary goal of this project is to identify the genetic basis of suppurative respiratory disease, including those with primary ciliary dyskinesia, primary immunodeficiencies, and other genetic disorders that interfere with airway defenses in patients without a confirmed genetic cause for their disease. This one-visit study includes a comprehensive medical history, physical exam, spirometry, nasal nitric oxide measurements, laboratory testing for genetics and immunologic evaluation, and a chest CT.

This longitudinal study will examine respiratory tract exacerbations in primary ciliary dyskinesia. Given their negative impact on the lives of people with primary ciliary dyskinesia, respiratory tract exacerbations are obvious targets for interventional trials designed to establish evidence-based guidelines for their prevention and treatment. This longitudinal, multicenter study will define clinical features that characterize exacerbations, and examine innovative mobile health monitoring tools, including home spirometry, validated disease-specific quality of life instruments, and novel bedside digital cough monitoring over a one-year period.

A collaboration between pulmonologists, immunologists, and otolaryngologists at four sites, this project is designed to comprehensively define and compare the clinical manifestations and morbidity of upper airway involvement in primary ciliary dyskinesia and primary immunodeficiencies. The main objective of this project is to collect critical data to inform the design of future clinical trials that treat upper airway disease in these conditions. This one-visit study will include a comprehensive medical history, targeted ENT physical, nasal endoscopy, mucus sample collection, nasal nitric oxide, smell identification testing, audiology assessment and a sinus CT.

This longitudinal study is designed to define the rate of progression of PCD lung function in participants between 5-18 years of age using spirometry, which tracks well with lung impairment and prognosis in other disorders of the airways such as cystic fibrosis. This longitudinal protocol will also systematically track other specific outcomes, including pathogens infecting the airways (assessed by respiratory cultures), and age at onset and progression of airway damage and bronchiectasis (assessed by high-resolution computerized tomography, HRCT, of the chest).

This study is designed to study the way in which patients with chronic airway disease are evaluated and diagnosed. The goal of these studies is to improving diagnostic techniques, including genetic testing. In addition, clinical features (phenotype) across these disorders will be studied to better understand the disorders. This will lead not only to a better standard of clinical care, but will assist in identifying of new treatment options.

Primary Ciliary Dyskinesia (PCD) is a genetic defect in airway host-defense, and typically results in chronic infection of the airways. Patients with PCD have chronic lung, sinus and ear infections. This longitudinal study is designed to define the rate of progression of PCD lung function in participants prior to 10 years of age using special lung function tests, which helped to track lung impairment and prognosis in other disorders of the airways such as cystic fibrosis. This longitudinal protocol will also systematically track other specific outcomes, including pathogens infecting the airways (assessed by respiratory cultures), and age at onset and progression of airway damage and bronchiectasis (assessed by high-resolution computerized tomography, HRCT, of the chest).

This single-visit protocol will use a systematic approach to characterize the physical features, radiographic patterns, and associated lower airway microbial flora of adults with bronchiectasis of unknown etiology. There is no natural history of disease course follow-up component to this protocol. Participants will have one outpatient clinic visit for evaluation with a physical examination including detailed body size measurements, medical history, collection of blood samples for routine lab tests and genetic analyses, and a chest x-ray if no recent one is available. Participants will also have tests of lung function, and measurement of a gas called nitric oxide in the nose. Participants whose initial tests show abnormal results may also be asked to have a nasal scrape to collect cell samples and/or a skin sweat test to measure salt concentrations. Participants will also have a sputum specimen collected during the visit and will be asked to collect two additional early morning sputum samples and a mouth rinse at home within 2 weeks of the clinic visit, and mail the sample collection materials to the research team.

This is an observational study of ~ 280 participants with known or suspected PCD, who will go through genetic testing for PCD. Over a 5-year period, participants who have clinical and lab features characteristic of PCD (signs that seem like PCD) will join the study. A one-time study visit is required and the visit will last about 40 minutes. In the event that follow- up is needed, you may be contacted after the first visit. The research visit will take place at one of the participating institutions. During the study, a sample of DNA will be collected for genetic testing and medical history will be reviewed.