Understanding the genetic causes of lung disease in Primary Ciliary Dyskinesia
Diagnostic and Clinical Characterization of Patients With Unusual Genetic Disorders of the Airways
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 |
|---|---|
| Enrollment | 1800 (estimated) |
| Sex | All |
| Sponsor | University of North Carolina, Chapel Hill Academic / other |
| Locations | 1 site (Chapel Hill, North Carolina) |
| Trial ID | NCT00807482 on ClinicalTrials.gov |
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.
Who should consider this trial
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.
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.
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 performed: Other studies have shown success in identifying genetic mutations related to ciliary function, making this approach promising but still requiring further exploration.
Eligibility criteria
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 this trial is running
Chapel Hill, North Carolina
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.