Kartagener SyndromeNCT00722878
Long-term Lung Function and Disease Progression in Children With Early Onset Primary Ciliary Dyskinesia Lung Disease
An observational study of Kartagener Syndrome, run by University of North Carolina, Chapel Hill at 6 sites in 2 countries.
Trial summary
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. Read more about this study
- Who is it for?
- Ages Up to 4 years
- Conditions the study is for
- Kartagener Syndrome
- How many people
- 48 participants
- Where
- 6 sitesin 2 countries
- Study dates
- Jul 2008to Aug 2019
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 4 years
- All sexes
- No healthy volunteers
- Child
Study population: 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 60 nl/minute).
Who may be able to join
- Younger than 5 years of age
- Diagnosis of PCD or probable PCD based on criteria listed above
- Parent or legal guardian willing to give informed consent
Who cannot join
- Unable to attend follow-up appointments
- History of lung transplant
- Any co-existing severe diseases that may have significant impact on lung function, respiratory infections, or overall health status (i.e., severe congenital heart disease, severe scoliosis, AIDS, cancer, or end-stage kidney disease)
Trial locations and contacts
6 sites in 2 countries.
6 sites in 2 countries
United States5 sites
University of North Carolina, Chapel Hill
Chapel Hill, North Carolina, 27599
The Children's Hospital, Denver
Denver, Colorado, 80045
Stanford University, Palo Alto
Palo Alto, California, 94304
Children's Hospital and Regional Medical Center, Seattle
Seattle, Washington, 98105
Washington University in St. Louis
St Louis, Missouri, 63110
About this study
Official title: Early Onset and Progression of Primary Ciliary Dyskinesia Lung Disease Prior to 10 Years of Age
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.
Read the detailed description
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.
- Conditions
- Kartagener Syndrome
- Keywords
- Primary Ciliary Dyskinesia
- Medical subject headings
- Kartagener Syndrome, Ciliary Motility Disorders
What is being measured
The primary outcome is the main question the study is designed to answer.
Infant lung function
Measured: Measured at initial study visit (for children under 3)
Spirometry measures
Measured: Measured yearly for 5 years (after age of 3 years)
Respiratory cultures
Measured: Measured yearly for 5 years
Chest CT scan results
Measured: Measured at the initial study visit and at Years 3 and 5
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Jul 2008 (estimated)
- Study startJul 2008
- Primary completionAug 2019
- Study completionAug 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (22)Papers the sponsor has linked to this study.
- Other trials for Kartagener SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 48 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of North Carolina, Chapel Hill
- Sponsor type
- University, hospital or other
- Collaborators
- National Heart, Lung, and Blood Institute (NHLBI)
- Responsible party
- Sponsor
- Investigators
- Margaret W. Leigh, MD, Study chair, University of North Carolina, Chapel HillMargaret Rosenfeld, MD, MPH, Study chair, Seattle Children's HospitalStephanie Davis, MD, Study chair, University of North Carolina, Chapel Hill
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00722878
- Sponsor's protocol ID
- 08-0764
- Other IDs
- U54HL096458, RDCRN 5903
- Status last verified
- Oct 2019
- First submitted
- 24 Jul 2008
- Last updated
- 7 Oct 2019
- Results posted
- No
- Data monitoring committee
- Yes
Publications
Imbrie JD. Kartagener's syndrome: a genetic defect affecting the function of cilia. Am J Otolaryngol. 1981 Aug;2(3):215-22. doi: 10.1016/s0196-0709(81)80018-x.
PubMed 6974512Ramotowski R, Guz W, Zieba E, Zlomaniec G. Clinical and radiological aspects of Kartagener's syndrome. Ann Univ Mariae Curie Sklodowska Med. 2001;56:151-5.
PubMed 11977302Newmark H 3rd, Willis G, Ablemayor E, Chakmakian V. Kartagener's syndrome seen on CT. Comput Radiol. 1985 Sep-Oct;9(5):279-81. doi: 10.1016/0730-4862(85)90052-6.
PubMed 3877608Griggs RC, Batshaw M, Dunkle M, Gopal-Srivastava R, Kaye E, Krischer J, Nguyen T, Paulus K, Merkel PA; Rare Diseases Clinical Research Network. Clinical research for rare disease: opportunities, challenges, and solutions. Mol Genet Metab. 2009 Jan;96(1):20-6. doi: 10.1016/j.ymgme.2008.10.003. Epub 2008 Nov 13.
PubMed 19013090Lie H, Zariwala MA, Helms C, Bowcock AM, Carson JL, Brown DE 3rd, Hazucha MJ, Forsen J, Molter D, Knowles MR, Leigh MW, Ferkol TW. Primary ciliary dyskinesia in Amish communities. J Pediatr. 2010 Jun;156(6):1023-1025. doi: 10.1016/j.jpeds.2010.01.054. Epub 2010 Mar 29.
PubMed 20350728Olin JT, Burns K, Carson JL, Metjian H, Atkinson JJ, Davis SD, Dell SD, Ferkol TW, Milla CE, Olivier KN, Rosenfeld M, Baker B, Leigh MW, Knowles MR, Sagel SD; Genetic Disorders of Mucociliary Clearance Consortium. Diagnostic yield of nasal scrape biopsies in primary ciliary dyskinesia: a multicenter experience. Pediatr Pulmonol. 2011 May;46(5):483-8. doi: 10.1002/ppul.21402. Epub 2011 Jan 31.
PubMed 21284095Zariwala MA, Omran H, Ferkol TW. The emerging genetics of primary ciliary dyskinesia. Proc Am Thorac Soc. 2011 Sep;8(5):430-3. doi: 10.1513/pats.201103-023SD.
PubMed 21926394Leigh MW, O'Callaghan C, Knowles MR. The challenges of diagnosing primary ciliary dyskinesia. Proc Am Thorac Soc. 2011 Sep;8(5):434-7. doi: 10.1513/pats.201103-028SD.
PubMed 21926395Sagel SD, Davis SD, Campisi P, Dell SD. Update of respiratory tract disease in children with primary ciliary dyskinesia. Proc Am Thorac Soc. 2011 Sep;8(5):438-43. doi: 10.1513/pats.201103-024SD.
PubMed 21926396Davis SD, Knowles M, Leigh M. Introduction: primary ciliary dyskinesia and overlapping syndromes. Proc Am Thorac Soc. 2011 Sep;8(5):421-2. doi: 10.1513/pats.201103-026SD. No abstract available.
PubMed 21926392Ostrowski LE, Dutcher SK, Lo CW. Cilia and models for studying structure and function. Proc Am Thorac Soc. 2011 Sep;8(5):423-9. doi: 10.1513/pats.201103-027SD.
PubMed 21926393Mateos-Corral D, Coombs R, Grasemann H, Ratjen F, Dell SD. Diagnostic value of nasal nitric oxide measured with non-velum closure techniques for children with primary ciliary dyskinesia. J Pediatr. 2011 Sep;159(3):420-4. doi: 10.1016/j.jpeds.2011.03.007. Epub 2011 Apr 22.
PubMed 21514598Knowles MR, Leigh MW, Carson JL, Davis SD, Dell SD, Ferkol TW, Olivier KN, Sagel SD, Rosenfeld M, Burns KA, Minnix SL, Armstrong MC, Lori A, Hazucha MJ, Loges NT, Olbrich H, Becker-Heck A, Schmidts M, Werner C, Omran H, Zariwala MA; Genetic Disorders of Mucociliary Clearance Consortium. Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. Thorax. 2012 May;67(5):433-41. doi: 10.1136/thoraxjnl-2011-200301. Epub 2011 Dec 18.
PubMed 22184204Stillwell PC, Wartchow EP, Sagel SD. Primary Ciliary Dyskinesia in Children: A Review for Pediatricians, Allergists, and Pediatric Pulmonologists. Pediatr Allergy Immunol Pulmonol. 2011 Dec;24(4):191-196. doi: 10.1089/ped.2011.0099.
PubMed 22276227Knowles MR, Leigh MW, Zariwala MA. Cutting edge genetic studies in primary ciliary dyskinesia. Thorax. 2012 May;67(5):464; author reply 464. doi: 10.1136/thoraxjnl-2012-201609. Epub 2012 Feb 10. No abstract available.
PubMed 22328589
Study at a glance
From the registry record, last updated by the sponsor on 7 Oct 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Early Onset and Progression of Primary Ciliary Dyskinesia Lung Disease Prior to 10 Years of Age
- ClinicalTrials.gov ID
- NCT00722878
- Acronym / sponsor ID
- 08-0764
- Conditions
- Kartagener Syndrome
- Keywords
- Primary Ciliary Dyskinesia
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 48 participants (actual)
- Lead sponsor
- University of North Carolina, Chapel HillUniversity, hospital or other
- Collaborators
- National Heart, Lung, and Blood Institute (NHLBI)
- Study start
- Jul 2008
- Primary completion
- Aug 2019 (actual)
- Study completion
- Aug 2019 (actual)
- First posted
- 28 Jul 2008 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- Up to 4 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- 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 60 nl/minute).
Key inclusion criteria (3 listed)
- Younger than 5 years of age
- Diagnosis of PCD or probable PCD based on criteria listed above
- Parent or legal guardian willing to give informed consent
Key exclusion criteria (3 listed)
- Unable to attend follow-up appointments
- History of lung transplant
- Any co-existing severe diseases that may have significant impact on lung function, respiratory infections, or overall health status (i.e., severe congenital heart disease, severe scoliosis, AIDS, cancer, or end-stage kidney disease)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Infant lung function
Time frame: Measured at initial study visit (for children under 3)
Spirometry measures
Time frame: Measured yearly for 5 years (after age of 3 years)
Respiratory cultures
Time frame: Measured yearly for 5 years
Chest CT scan results
Time frame: Measured at the initial study visit and at Years 3 and 5
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 7 Oct 2019.
- Background: PubMed 6974512Imbrie JD. Kartagener's syndrome: a genetic defect affecting the function of cilia. Am J Otolaryngol. 1981 Aug;2(3):215-22. doi: 10.1016/s0196-0709(81)80018-x.
- Background: PubMed 11977302Ramotowski R, Guz W, Zieba E, Zlomaniec G. Clinical and radiological aspects of Kartagener's syndrome. Ann Univ Mariae Curie Sklodowska Med. 2001;56:151-5.
- Background: PubMed 3877608Newmark H 3rd, Willis G, Ablemayor E, Chakmakian V. Kartagener's syndrome seen on CT. Comput Radiol. 1985 Sep-Oct;9(5):279-81. doi: 10.1016/0730-4862(85)90052-6.
- Background: PubMed 19013090Griggs RC, Batshaw M, Dunkle M, Gopal-Srivastava R, Kaye E, Krischer J, Nguyen T, Paulus K, Merkel PA; Rare Diseases Clinical Research Network. Clinical research for rare disease: opportunities, challenges, and solutions. Mol Genet Metab. 2009 Jan;96(1):20-6. doi: 10.1016/j.ymgme.2008.10.003. Epub 2008 Nov 13.
- Background: PubMed 20350728Lie H, Zariwala MA, Helms C, Bowcock AM, Carson JL, Brown DE 3rd, Hazucha MJ, Forsen J, Molter D, Knowles MR, Leigh MW, Ferkol TW. Primary ciliary dyskinesia in Amish communities. J Pediatr. 2010 Jun;156(6):1023-1025. doi: 10.1016/j.jpeds.2010.01.054. Epub 2010 Mar 29.
- Background: PubMed 21284095Olin JT, Burns K, Carson JL, Metjian H, Atkinson JJ, Davis SD, Dell SD, Ferkol TW, Milla CE, Olivier KN, Rosenfeld M, Baker B, Leigh MW, Knowles MR, Sagel SD; Genetic Disorders of Mucociliary Clearance Consortium. Diagnostic yield of nasal scrape biopsies in primary ciliary dyskinesia: a multicenter experience. Pediatr Pulmonol. 2011 May;46(5):483-8. doi: 10.1002/ppul.21402. Epub 2011 Jan 31.
- Background: PubMed 21926394Zariwala MA, Omran H, Ferkol TW. The emerging genetics of primary ciliary dyskinesia. Proc Am Thorac Soc. 2011 Sep;8(5):430-3. doi: 10.1513/pats.201103-023SD.
- Background: PubMed 21926395Leigh MW, O'Callaghan C, Knowles MR. The challenges of diagnosing primary ciliary dyskinesia. Proc Am Thorac Soc. 2011 Sep;8(5):434-7. doi: 10.1513/pats.201103-028SD.
- Background: PubMed 21926396Sagel SD, Davis SD, Campisi P, Dell SD. Update of respiratory tract disease in children with primary ciliary dyskinesia. Proc Am Thorac Soc. 2011 Sep;8(5):438-43. doi: 10.1513/pats.201103-024SD.
- Background: PubMed 21926392Davis SD, Knowles M, Leigh M. Introduction: primary ciliary dyskinesia and overlapping syndromes. Proc Am Thorac Soc. 2011 Sep;8(5):421-2. doi: 10.1513/pats.201103-026SD. No abstract available.
- Background: PubMed 21926393Ostrowski LE, Dutcher SK, Lo CW. Cilia and models for studying structure and function. Proc Am Thorac Soc. 2011 Sep;8(5):423-9. doi: 10.1513/pats.201103-027SD.
- Background: PubMed 21514598Mateos-Corral D, Coombs R, Grasemann H, Ratjen F, Dell SD. Diagnostic value of nasal nitric oxide measured with non-velum closure techniques for children with primary ciliary dyskinesia. J Pediatr. 2011 Sep;159(3):420-4. doi: 10.1016/j.jpeds.2011.03.007. Epub 2011 Apr 22.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Margaret W. Leigh, MD study chair
University of North Carolina, Chapel Hill
Margaret Rosenfeld, MD, MPH study chair
Seattle Children's Hospital
Stephanie Davis, MD study chair
University of North Carolina, Chapel Hill
6 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Kartagener Syndrome, run by University of North Carolina, Chapel Hill at 6 sites in 2 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 7 Oct 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 6 sites in United States, Canada. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Infant lung function (time frame: Measured at initial study visit (for children under 3)). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00722878, which also lists 22 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 7 Oct 2019.