Latest1 information on COVID-19
©2022 Stanford Medicine
Recruiting
I'm InterestedTrial ID: NCT00323167
Rare Genetic Disorders of the Airways: Cross-sectional Comparison of Clinical Features, and Development of Novel Screening and Genetic Tests
Clinical Professor, Medicine - Pulmonary, Allergy & Critical Care Medicine Clinical Professor (By courtesy), Surgery - General Surgery
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 Interested
Stanford University
School of Medicine
300 Pasteur Drive
Stanford,
CA
94305
Colleen Dunn
6507360388