©2024 Stanford Medicine
Rare Genetic Disorders of the Breathing Airways
Recruiting
I'm InterestedTrial ID: NCT00323167
Purpose
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
Stanford Investigator(s)
Paul Mohabir
Clinical Professor, Medicine - Pulmonary, Allergy & Critical Care Medicine Clinical Professor (By courtesy), Surgery - General Surgery
Eligibility
Inclusion Criteria:
- 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:
- Has not received a standard clinical evaluation to rule out other disorders associated
with chronic sino-pulmonary disease
Recruiting
I'm InterestedContact Information
Stanford University
School of Medicine
300 Pasteur Drive
Stanford,
CA
94305
Colleen Dunn
6507360388