Evaluating Progression of and Diagnostic Tools for Primary Ciliary Dyskinesia in Children and Adolescents
- Conditions
- Primary Ciliary Dyskinesia
- Registration Number
- NCT00450918
- Lead Sponsor
- University of North Carolina, Chapel Hill
- 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, 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 (PCD) have defective mucociliary clearance, which in turn leads to lung infections and disease. The purpose of this study is to determine how lung disease progresses over time in children and adolescents with PCD.
- Detailed Description
PCD is a rare genetic disorder in which impaired mucus clearance commonly results in chronic cough and infections in the airways, sinuses, and middle ears. Long lasting airway infection ultimately leads to structural damage to the airways, known as bronchiectasis, and, in turn, loss of lung function. While PCD shares some similarities with the disease cystic fibrosis, it is important to distinguish PCD from cystic fibrosis. In particular, the age of onset and progression of PCD's clinical lung disease, including timing of specific microbial pathogen infections and bronchiectasis, remain poorly defined. The purpose of this study is to determine how lung disease progresses over time in children and adolescents with PCD. Specific attention will be directed toward determining whether certain factors play a role in lung disease progression. The study will also evaluate diagnostic tools and quality of life among individuals with PCD. Filling these gaps of knowledge may help to improve the clinical management of PCD in the future.
This longitudinal study will last 5 years. There will be a total of 5 study visits, and these visits will occur yearly. Each study visit will last 3 to 4 hours. All study visits will include a medical history review; physical exam; height, weight, and vital sign measurements; sampling of respiratory fluids and mucus; lung function tests; and questionnaires. The initial visit may also include using a probe to measure nasal nitric oxide levels and blood collection for genetic testing. Study visits 1, 3, and 5 will also include blood collection for pregnancy testing and a high resolution computed tomography (HRCT) scan of the chest to image the lungs. At the end of each month, participants will report any use of oral, inhaled, or intravenous antibiotics.
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 150
- Diagnosis of PCD or probable PCD. More information about the criteria for a PCD diagnosis can be found in the protocol.
- Parent or guardian willing to provide informed consent
- Inability to attend follow-up appointments
- Previously received lung transplant
- Any disease that may have significant impact on lung function (e.g., severe congenital heart disease, severe scoliosis), respiratory infections (e.g., AIDS), or overall health status (e.g., cancer, end-stage kidney disease)
- Pregnant or breastfeeding
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Spirometry Measures Measured yearly for 5 years HRCT scan of the chest to image lungs At visits 1, 3, and 5
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (5)
University of North Carolina at Chapel Hill
🇺🇸Chapel Hill, North Carolina, United States
Children's Hospital and Regional Medical Center
🇺🇸Seattle, Washington, United States
The Children's Hospital
🇺🇸Denver, Colorado, United States
Washington University
🇺🇸Saint Louis, Missouri, United States
The Hospital for Sick Children
🇨🇦Toronto, Ontario, Canada