Diseases Studied

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.

This network focuses on clinical research and does not generally support clinical care outside of research activities. To learn about other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD), which is an NIH program that helps the public find reliable information about rare and genetic diseases. Their staff are specialists. Contact them at 1-888-205-2311 or email GARDinfo@nih.gov.

All Diseases > Genetic Mucociliary Disorders

Genetic Mucociliary Disorders

Disease Category: Genetic Mucociliary Disorders

Genetic Mucociliary Disorders are rare and genetic conditions leading to impairments in lung defenses and suppurative respiratory disorders (a group of disorders that result in chronic lung infection, with pus in the lungs). The GDMCC focuses on disorders such as primary ciliary dyskinesia, cystic fibrosis, primary immunodeficiencies, and idiopathic bronchiectasis.

Research groups studying this disease

Genetic Mucociliary Disorders

Genetic Disorders of Mucociliary Clearance Consortium (GDMCC)

View Disease Definition

Recruiting

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

5908: Cross-sectional study examining and comparing the clinical impact of the otolaryngological manifestations of primary ciliary dyskinesia and primary immunodeficiencies

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.