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 > Nontuberculous Mycobacterium Pulmonary Disease
Nontuberculous Mycobacterium Pulmonary Disease (NTM)
Disease Category: Genetic Mucociliary Disorders
General term for a group of lung disorders caused by specific bacteria known as mycobacteria. This disease is differentiated from the mycobacteria that cause tuberculosis. The most common symptoms include persistent cough, fatigue, weight loss, night sweats, and occasionally dyspnea (shortness of breath) and hemoptysis (coughing up blood). Less frequently, swelling or infection of the lymph nodes, and skin or soft tissue infections occur. Individuals with underlying lung conditions are more at risk for this disorder.
Research groups studying this disease
Genetic Mucociliary Disorders
Genetic Disorders of Mucociliary Clearance Consortium (GDMCC)
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
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.