Evaluating Progression of and Diagnostic Tools for Primary Ciliary Dyskinesia in Children and Adolescents

Age Range:5 - 18
Start Date:August 2006
End Date:August 2019
Contact:Kelli Sullivan, MPH
Phone:(919) 966-0713

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Longitudinal Study of Primary Ciliary Dyskinesia: Participants 5-18 Years of Age

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.

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.

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
We found this trial at
Saint Louis, Missouri 63110
Principal Investigator: Thomas Ferkol, MD
Phone: 314-454-2353
Saint Louis, MO
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Chapel Hill, North Carolina 27599
(919) 962-2211
Principal Investigator: Margaret W. Leigh, MD
Phone: 919-966-7065
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Principal Investigator: Scott Sagel, MD
Phone: 720-777-2613
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Principal Investigator: Margaret Rosenfeld, MD
Phone: 206-987-5914
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555 University Avenue
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Principal Investigator: Sharon Dell, MD
Phone: 416-813-5587
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