Rare Genetic Disorders of the Breathing Airways

Trial ID or NCT#



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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.

Official Title

Rare Genetic Disorders of the Airways: Cross-sectional Comparison of Clinical Features, and Development of Novel Screening and Genetic Tests

Eligibility Criteria

Sexes Eligible for Study: All
Accepts Healthy Volunteers: No
Inclusion Criteria:
  1. - Received a standard diagnostic evaluation prior to study entry that resulted in one of the following three profiles: 1. 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 2. 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) 3. Known or suspected PHA (or variant PHA), possibly including elevated (or borderline) sweat chloride values
Exclusion Criteria:
  1. - Has not received a standard clinical evaluation to rule out other disorders associated with chronic sino-pulmonary disease


Carlos Milla
John D. Mark
Carol Conrad
Terry Robinson
Paul Mohabir
Paul Mohabir
Critical care specialist, Cystic fibrosis specialist, Pulmonary critical care specialist
Clinical Professor, Medicine - Pulmonary, Allergy & Critical Care Medicine Clinical Professor (By courtesy), Surgery - General Surgery
David N. Cornfield

Contact us to find out if this trial is right for you.


Colleen Dunn