Clinical Trial: Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung Disease

Study Status: Completed
Recruit Status: Completed
Study Type: Observational



Official Title: Genetic Disorders of Mucociliary Clearance

Brief Summary:

Healthy volunteers and patients with diseases that involve problems clearing mucus from the lungs will be examined and tested to better understand the reasons for recurring lung infections in these patients and to try to develop better ways to diagnose and treat them. The study will also try to identify the genes responsible for these diseases.

Healthy volunteers 18 years of age and older and patients 2 years of age or older with suspected primary ciliary dyskinesia (PCD), variant cystic fibrosis (CF) or pseudohypoaldosteronism (PHA) may be eligible for this study. Patients enrolled in the Natural History Study of Nontuberculous Mycobacteria at NIH or other NIH natural history protocols may also be enrolled. Participants undergo the following tests and procedures during a 1-day visit at the NIH Clinical Center, as follows:

All patients and normal volunteers have the following procedures:

  • Physical examination and review of medical and genetic history and family genetic history.
  • Lung function test and measurement of oxygen saturation level.
  • Nitric oxide measurement to measure the amount of nitric oxide production in the nose: A small tube is placed in the nose while the subject breathes through the mouth into a cardboard tube.

All patients have the following additional procedures:

  • Blood tests for liver and kidney function, blood count, immunoglobulins and pregnancy test (where appropriate).
  • Blood test or buccal scrape (brushing the inside of the cheek) to obtain DNA to look for gene mutations that cause P