Current Research Studies

Defining the Genetic Etiology of Suppurative Lung Disease in Children and Adults (GDMCC 5906)

GDMCC 5906 PCD vs. PID

What is the goal of the study?

We have established a Consortium of 8 geographically-dispersed clinical research sites in North America that are designed to study rare diseases of the airways, which involve immune defects in pulmonary host defense and/or defective clearance of mucus secretions from the airways (defective “mucociliary clearance”, MCC). These 8 sites will collaborate in diagnostic, genetic, and other studies in patients suspected of having one of the >350 primary immunodeficiency (PID) disorders and/or impairments of MCC in the upper and lower respiratory tracts, including primary ciliary dyskinesia (PCD). These disorders are associated with genetic defects in airway host-defense, and typically result in chronic infection of the airways with subsequent development of bronchiectasis, loss of lung function, and shortened life expectancy in some subjects. In addition, patients with some of the PID disorders are at high risk of developing hematologic malignancies. Unfortunately, many patients with these disorders of the conducting airways and sinuses have delayed (or incorrect) diagnoses, leading to suboptimal care, because the clinical phenotypes are not recognized and/or diagnostic tests are not readily available. However, once a diagnosis is established, there are treatments available that improve symptoms and benefit clinical outcomes.

Who can participate in the study?

Please contact the study team listed below to learn more.

Study Team: