CompletedNot Applicable

Rare Genetic Disorders of the Breathing Airways

United States367 participantsStarted 2006-05

Plain-language summary

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.

Who can participate

SexALL

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Inclusion criteria

✓. 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

What they're measuring

This is not an interventional study

Timeframe: This is not an interventional study

Trial details

NCT IDNCT00323167

SponsorUniversity of North Carolina, Chapel Hill

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2012-10

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