Understanding the genetic causes of lung disease in Primary Ciliary Dyskinesia
Official title: Diagnostic and Clinical Characterization of Patients With Unusual Genetic Disorders of the Airways
Run by University of North Carolina, Chapel Hill · NCT00807482 · Data updated 2026-11-12
This study is trying to find out which genes cause lung problems in people with Primary Ciliary Dyskinesia to better understand how it affects breathing and related conditions like asthma and COPD.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 1800 (estimated) |
| Sponsor | University of North Carolina, Chapel Hill Academic / other |
| Locations | 1 site (Chapel Hill, North Carolina) |
| Status | Recruiting |
| Started | January 2004 |
| Main results expected | June 2027 |
| Study ends | June 2027 |
| Registry record updated | June 29, 2026 |
| Trial ID | NCT00807482 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include patients with a high suspicion of PCD based on clinical features and healthy volunteers with a family member diagnosed with PCD.
✕Probably not a fit
Patients without any suspicion of PCD or those who do not have a family history of the condition may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational project aims to identify the genes responsible for the function of respiratory cilia and how genetic mutations lead to primary ciliary dyskinesia (PCD), which can cause severe lung disease. The study will investigate the molecular causes of PCD by examining the structure and function of cilia, including their waveforms and beat frequencies. By correlating genetic mutations with ciliary function, the research seeks to enhance understanding of PCD and its implications for common airway diseases like asthma and COPD.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnosis and treatment options for patients with primary ciliary dyskinesia and related airway diseases.
How similar studies have gone: Other studies have shown success in identifying genetic mutations related to ciliary function, making this approach promising but still requiring further exploration.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * Patients who have a high suspicion for the diagnosis of PCD, based on clinical features Healthy Volunteers who have a family member with confirmed PCD.
Where it's running
-
The University of North Carolina at Chapel Hill
Chapel Hill, North Carolina, United States Recruiting
Study contacts
- Principal investigator: Kenneth R. Olivier, MD, MPH — University of North Carolina, Chapel Hill
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
-
International cohort study of patients with Primary Ciliary Dyskinesia
This study looks at how ear, nose, and throat problems affect people with Primary Ciliary Dyskinesia and their lung health, while making sure participants get their usual care.
-
Registry for patients with Primary Ciliary Dyskinesia in Switzerland
This study is creating a registry to collect information about people with Primary Ciliary Dyskinesia in Switzerland to help improve understanding and treatment of the condition.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.