Rare Genetic Disorders of the Breathing Airways

Completed

Conditions studied: Kartagener Syndrome, Cystic Fibrosis, Pseudohypoaldosteronism, Primary Ciliary Dyskinesia

In brief

Mucociliary clearance, in which mucus secretions are cleared from the breathing airways, is the primary defense mechanism for the lungs. Inhaled particles, including microbes that can cause infections, are normally entrapped in mucus on the airway surfaces and then cleared out by the coordinated action of tiny hair-like structures called cilia. Individuals with primary ciliary dyskinesia, variant cystic fibrosis, and pseudohypoaldosteronism have defective mucociliary clearance. The purpose of this study is to collect clinical and genetic information about these three airway diseases to improve current diagnostic procedures.

Key facts

Study ID

NCT00323167

Run by

University of North Carolina, Chapel Hill

People needed

367

Starts

2006-05-01

Expected to finish

2012-10-01

Last updated by the study team

2022-08-10

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Received a standard diagnostic evaluation prior to study entry that resulted in one of the following three profiles:
• High likelihood of PCD diagnosis, based on ciliary ultrastructural changes seen on electron microscopy or clinical features (chronic sinopulmonary disease, chronic otitis media, history of neonatal respiratory distress or situs inversus) OR one clinical feature of PCD and a sibling with PCD
• Chronic sino-pulmonary disease with clinical features that overlap with variant CF and PCD, but with diagnostic tests that rule out classical CF (sweat chloride testing and CF gene mutation screening)
• Known or suspected PHA (or variant PHA), possibly including elevated (or borderline) sweat chloride values

You may not qualify if…

• Has not received a standard clinical evaluation to rule out other disorders associated with chronic sino-pulmonary disease

Where it is running

• Stanford University — Palo Alto, California, United States
• National Jewish Health — Denver, Colorado, United States
• The Children's Hospital — Denver, Colorado, United States
• Laboratory of Clinical Infectious Diseases, NIAID — Bethesda, Maryland, United States
• Washington University — St Louis, Missouri, United States
• University of North Carolina at Chapel Hill — Chapel Hill, North Carolina, United States
• Children's Hospital and Regional Medical Center — Seattle, Washington, United States
• St. Michael's Hospital — Toronto, Ontario, Canada
• The Hospital for Sick Children — Toronto, Ontario, Canada

Full record on ClinicalTrials.gov

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