The Rare Diseases Clinical Research Network is an NIH-funded research network of 20 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.
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All Diseases > Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia (PCD)
Disease Category: Genetic Mucociliary Disorders
An inherited condition in which mucociliary clearance of the lungs is impaired. In this disorder, cilia (hairlike structures) lining the airway, sinuses, and middle ears have defective movements, leading to accumulation of harmful particles and pathogens trapped within mucus. This results in chronic sinusitis, and frequent respiratory and middle ear infections. These recurrent infections may lead to hearing loss, chronic cough, severe lung damage, and bronchiectasis (irreversible scarring and dilation of the bronchi).
Research groups studying this disease
Genetic Mucociliary Disorders
Genetic Disorders of Mucociliary Clearance Consortium (GDMCC)View Disease Definition
5906: Cross-sectional study defining the genetic bases of non-cystic fibrosis suppurative lung diseases and bronchiectasis, focusing on primary ciliary dyskinesia and primary immunodeficiencies
5907: Longitudinal study assessing the effect of respiratory exacerbations on quality of life and disease progression in primary ciliary dyskinesia
Primary Ciliary Dyskinesia Foundation
Works to improve the quality of life of those affected by primary ciliary dyskinesia (PCD) and to develop the means to find a cure.
Immune Deficiency Foundation
Improves the diagnosis, treatment, and quality of life of people affected by primary immunodeficiency.