Status:
COMPLETED
Rare Genetic Disorders of the Breathing Airways
Lead Sponsor:
University of North Carolina, Chapel Hill
Collaborating Sponsors:
Rare Diseases Clinical Research Network
National Center for Research Resources (NCRR)
Conditions:
Kartagener Syndrome
Cystic Fibrosis
Eligibility:
All Genders
Brief 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...
Detailed Description
Two types of genetic diseases are associated with abnormal mucociliary clearance. The first type results in defective ciliary function and includes primary ciliary dyskinesia (PCD), also known as Kart...
Eligibility Criteria
Inclusion
- 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
Exclusion
- Has not received a standard clinical evaluation to rule out other disorders associated with chronic sino-pulmonary disease
Key Trial Info
Start Date :
May 1 2006
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
October 1 2012
Estimated Enrollment :
367 Patients enrolled
Trial Details
Trial ID
NCT00323167
Start Date
May 1 2006
End Date
October 1 2012
Last Update
August 10 2022
Active Locations (9)
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1
Stanford University
Palo Alto, California, United States, 94304
2
National Jewish Health
Denver, Colorado, United States, 80206
3
The Children's Hospital
Denver, Colorado, United States, 80218
4
Laboratory of Clinical Infectious Diseases, NIAID
Bethesda, Maryland, United States, 20892