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| Sponsor: | Office of Rare Diseases (ORD) |
|---|---|
| Information provided by: | Office of Rare Diseases (ORD) |
| ClinicalTrials.gov Identifier: | NCT00722878 |
Purpose
Primary ciliary dyskinesia (PCD), also known as Kartagener syndrome, is a genetic disorder of the cilia, which are microscopic hair-like cells. Cilia work to keep the respiratory system clean by moving mucus that contains debris to the large airways, where it can be coughed out. People with PCD have cilia that do not move properly and therefore are not effective in cleaning the respiratory system. This study will determine when PCD starts and how it changes over time, specifically in terms of how well the lungs work, what germs grow in lung secretions, and how the lungs look on computed tomography (CT) scans.
| Condition |
|---|
|
Kartagener Syndrome |
| Study Type: | Observational |
| Study Design: | Cohort, Prospective |
| Official Title: | Early Onset and Progression of Primary Ciliary Dyskinesia Lung Disease Prior to 10 Years of Age |
Approximately 2 teaspoons of blood and a small amount of urine (if the child is able to urinate in a cup) will be collected and held at the specimen bank located at Denver Children's Hospital. These samples will be used to help identify markers that may predict the clinical course of PCD.
| Estimated Enrollment: | 48 |
| Study Start Date: | July 2008 |
| Estimated Study Completion Date: | July 2013 |
| Estimated Primary Completion Date: | July 2013 (Final data collection date for primary outcome measure) |
PCD, or Kartagener syndrome, is a genetic disorder that causes hair-like cells called cilia to move improperly, or in some cases, not at all. Cilia are needed to help clear the respiratory system of pollutants. When they work properly, they move debris-filled mucus into the large airways, allowing the debris to be coughed out of the body. When the cilia do not work properly, the body cannot rid itself of debris and is left vulnerable to serious infections in the sinuses, ears, and lungs. Over time, repeated infections can lead to scarring and permanent obstruction of these body areas. This study will determine when PCD starts and how it changes over time, specifically in terms of how well the lungs work, what germs grow in lung secretions, and how the lungs look on CT scans. This research may lead to a better understanding of PCD and thereby help doctors improve clinical management of the disease.
Children in this study will attend six study visits over 5 years. At the first visit, parents will review their child's medical and cough history with doctors. Also at this visit, children will undergo a physical exam that will include measures of temperature, blood pressure, heart rate, respiration rate, and oxygen saturation level. Additional procedures will include collection of a respiratory mucus sample or a throat culture, measurement of nasal nitric oxide, collection of blood and urine for specimen banking, a CT scan, and lung function testing. Children younger than 3 years of age will undergo the scan and lung function test under sedation. Children older than 3 years of age will not receive sedation. CT scans will be performed at the initial visit and during the visits 3 and 5 for children older than 3. For children younger than 3 years, chest CT scans will be performed at the initial visit and during visits 4 and 6. Lung function tests and blood and urine collection may be repeated at some of the remaining yearly visits. Between yearly visits, parents will track on a calendar their children's use of oral, inhaled, and intravenous antibiotics.
Eligibility| Ages Eligible for Study: | up to 4 Years |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Non-Probability Sample |
Participants in this study will be children younger than 5 years of age who have been diagnosed with PCD as based on electron microscopy and/or presence of two known disease-causing gene mutations or for whom a diagnosis of PCD has been determined probable as based on clinical features and very low nasal nitric oxide (less than 100 nl/minute).
Inclusion Criteria:
Exclusion Criteria:
Contacts and Locations| United States, California | |
| Stanford University, Palo Alto | Recruiting |
| Palo Alto, California, United States, 94304 | |
| Contact: Carlos E. Milla, MD 650-723-5191 cmilla@stanford.edu | |
| Principal Investigator: Carlos E. Milla, MD | |
| United States, Colorado | |
| The Children's Hospital, Denver | Recruiting |
| Denver, Colorado, United States, 80218 | |
| Contact: Scott Sagel, MD 303-864-5546 sagel.scott@tchden.org | |
| Principal Investigator: Scott Sagel, MD | |
| United States, Missouri | |
| Washington University in St. Louis | Recruiting |
| St. Louis, Missouri, United States, 63110 | |
| Contact: Thomas Ferkol, MD 314-454-2694 ferkol_t@kids.wusl.edu | |
| Principal Investigator: Thomas Ferkol, MD | |
| United States, North Carolina | |
| University of North Carolina, Chapel Hill | Recruiting |
| Chapel Hill, North Carolina, United States, 27599 | |
| Contact: Stephanie D. Davis, MD 919-966-1055 sddavis@med.unc.edu | |
| Principal Investigator: Stephanie D. Davis, MD | |
| Sub-Investigator: Margaret Leigh, MD | |
| Sub-Investigator: Michael R. Knowles, MD | |
| United States, Washington | |
| Children's Hospital and Regional Medical Center, Seattle | Recruiting |
| Seattle, Washington, United States, 98105 | |
| Contact: Margaret Rosenfeld, MD, MPH 206-987-5664 margaret.rosenfeld@seattlechildrens.org | |
| Principal Investigator: Margaret Rosenfeld, MD, MPH | |
| Sub-Investigator: Ron Gibson, MD | |
| Canada, Ontario | |
| The Hospital for Sick Children, Toronto | Recruiting |
| Toronto, Ontario, Canada, M5G 1X8 | |
| Contact: Sharon Dell, MD 416-813-6248 Sharon.Dell@sickkids.ca | |
| Principal Investigator: Sharon Dell, MD | |
| Study Chair: | Stephanie D. Davis, MD | The University of North Carolina, Chapel Hill |
| Study Chair: | Margaret Rosenfeld, MD, MPH | Seattle Children's Hospital |
More Information
| Responsible Party: | University of North Carolina, Chapel Hill, Department of Pediatrics ( Stephanie D. Davis, MD ) |
| Study ID Numbers: | RDCRN 5903 |
| Study First Received: | July 24, 2008 |
| Last Updated: | June 3, 2009 |
| ClinicalTrials.gov Identifier: | NCT00722878 History of Changes |
| Health Authority: | United States: Federal Government |
|
Primary Ciliary Dyskinesia |
|
Bronchial Diseases Dextrocardia Kartagener Syndrome Signs and Symptoms Pathologic Processes Respiratory Tract Diseases Movement Disorders Syndrome Cardiovascular Diseases Congenital Abnormalities Respiratory System Abnormalities Otorhinolaryngologic Diseases Heart Diseases |
Disease Cardiovascular Abnormalities Bronchiectasis Nervous System Diseases Central Nervous System Diseases Situs Inversus Dyskinesias Genetic Diseases, Inborn Lung Diseases Ciliary Motility Disorders Neurologic Manifestations Heart Defects, Congenital |
