Clinical trial NCT00450918: Evaluating Progression of and Diagnostic Tools for Primary Ciliary Dyskinesia in Children and Adolescents
Official title: Longitudinal Study of Primary Ciliary Dyskinesia: Participants 5-18 Years of Age
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Primary Ciliary Dyskinesia
Keywords: Kartagener Syndrome
Lead sponsor: University of North Carolina, Chapel Hill
Sponsor class: OTHER
Collaborators: name: Office of Rare Diseases (ORD)
name: National Center for Research Resources (NCRR)
name: National Heart, Lung, and Blood Institute (NHLBI)
First posted: 2007-03-22
Enrollment: 150
Sex: ALL
Minimum age (years): 5
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Children and adolescents with primary ciliary dyskinesia

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.

Eligibility criteria: Inclusion Criteria:

* 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

Exclusion Criteria:

* 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

Primary outcomes:
measure: Spirometry Measures
timeFrame: Measured yearly for 5 years
measure: HRCT scan of the chest to image lungs
timeFrame: At visits 1, 3, and 5
Secondary outcomes:
Other outcomes:
Locations:
city: Denver
country: United States
facility: The Children's Hospital
state: Colorado
city: Saint Louis
country: United States
facility: Washington University
state: Missouri
city: Chapel Hill
country: United States
facility: University of North Carolina at Chapel Hill
state: North Carolina
city: Seattle
country: United States
facility: Children's Hospital and Regional Medical Center
state: Washington
city: Toronto
country: Canada
facility: The Hospital for Sick Children
state: Ontario
Study officials:
affiliation: University of North Carolina, Chapel Hill
name: Margaret W Leigh, MD
role: PRINCIPAL_INVESTIGATOR
References:
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