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Genetics of Primary Ciliary Dyskinesia

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02389049
Recruitment Status : Completed
First Posted : March 17, 2015
Last Update Posted : September 25, 2019
Rare Diseases Clinical Research Network
National Institutes of Health (NIH)
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by (Responsible Party):
University of North Carolina, Chapel Hill

Brief Summary:
This study is designed to study DNA sequencings for mutations in a research genetic test panel of genes (which contains all 32 known and/or published genes associated with PCD). The study aims to show that about 70% of PCD patients have biallelic mutations in one of these genes. This project will enroll patients who have already had a clinical evaluation, and have clinical features consistent with PCD.

Condition or disease
Primary Ciliary Dyskinesia Kartagener Syndrome

Detailed Description:

The investigators have established a Consortium of 9 geographically-dispersed clinical research sites to study rare disease of the airways, including Primary Ciliary Dyskinesia (PCD). PCD is a genetic disorder with defective mucociliary clearance (MCC), sinus and pulmonary disease with chronic infection, and organs located on the wrong side of the body in about 50% of patients (Kartagener Syndrome). Lung disease occurs early in children with PCD, but establishing a diagnosis remains a major challenge, based on the traditional approaches of using electron microscopy and/or ciliary waveform analysis to define abnormalities of ciliary ultrastructure and/or function.

For this study, blood or buccal samples for DNA will be collected and genetic testing in patients with known or suspected PCD will be performed. This study can include term neonates with respiratory distress of unknown etiology and features of PCD, particular laterality defects (situs inversus or heterotaxy). The key hypothesis for this study is that a genetic test panel of 32 genes will confirm a diagnosis in most patients with PCD.

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Study Type : Observational
Actual Enrollment : 320 participants
Observational Model: Cohort
Time Perspective: Cross-Sectional
Official Title: Research Genetic Testing for Primary Ciliary Dyskinesia Using a Panel of Genes
Study Start Date : February 2015
Actual Primary Completion Date : July 2018
Actual Study Completion Date : July 2018

Primary Outcome Measures :
  1. Confirm PCD diagnosis in patients using a panel of 32 genes [ Time Frame: Up to 5 years ]
    The primary objective is to perform research genetic (Ampliseq panel) testing in patients who are known or suspected to have PCD, based on previous research or future clinical and lab characterization by certified clinical research sites. We will define the prevalence of biallelic PCD-causing mutations in patients who fulfill criteria of very high likelihood of PCD, as well as prevalence in other patients with some features of PCD. We anticipate successful completion of this objective will provide the foundation for development of clinically available genetic test panels, particularly as additional PCD genes are identified.

Secondary Outcome Measures :
  1. Identify patients with PCD who do not have a biallelic PCD-causing mutation [ Time Frame: Up to 5 years ]
    The secondary objective is to perform research genetic testing to identify patients with PCD who do not have biallelic PCD-causing mutations in known PCD genes, so they can be exome sequenced to discover novel genes associated with PCD. We anticipate that successful completion of this objective will enable the development of more extensive genetic test panels that are more robust to diagnose PCD.

Biospecimen Retention:   Samples With DNA
Blood or buccal samples

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Study participants should have 2 or more clinical features of PCD.

Inclusion Criteria:

  • Any patient who has ≥ 2 clinical features (+/- lab) characteristic of PCD, including:

    • Neonatal respiratory distress after term (or near-term) birth
    • and/or laterality defect ( situs inversus or heterotaxy)
    • and/or daily wet cough before 6 months of age
    • and/or middle ear disease
    • and/or chronic nasal congestion before 6 months of age
    • and/or bronchiectasis
    • and/or male infertility due to sperm tail dysfunction
    • and/or low nasal nitric oxide levels (<77 nanoliters/minute)
    • and/or defective ciliary ultrastructure

Exclusion Criteria:

  • Known diagnosis of cystic fibrosis with classic clinical presentation and elevated sweat chloride levels and/or two known disease-causing Cystic Fibrosis transmembrane conductance regulator (CFTR) mutations, or documented primary or acquired immunodeficiency.
  • Known explanation for bronchiectasis (and other clinical features), such as α1-antitrypsin deficiency (ZZ or ZS), inflammatory bowel disease or rheumatoid arthritis.
  • Any patient who is unwilling or unable to provide consent or to comply with the testing required in this protocol

A participant should not be in the study if they have not had a standard clinical evaluation to address other potential causes of chronic oto-sino- pulmonary disease.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02389049

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United States, California
Stanford University
Palo Alto, California, United States, 94304
United States, Colorado
The Children's Hospital, Denver
Aurora, Colorado, United States, 80045
United States, Indiana
Riley Hospital for Children
Indianapolis, Indiana, United States, 46202
United States, Missouri
Washington University, St. Louis
Saint Louis, Missouri, United States, 63110
United States, North Carolina
The University of North Carolina at Chapel Hill
Chapel Hill, North Carolina, United States, 27599
United States, Washington
Children's Hospital and Regional Medical Center, Seattle
Seattle, Washington, United States, 98105
Canada, Ontario
The Hospital for Sick Children
Toronto, Ontario, Canada
Canada, Quebec
McGill University
Montreal, Quebec, Canada
Sponsors and Collaborators
University of North Carolina, Chapel Hill
Rare Diseases Clinical Research Network
National Institutes of Health (NIH)
National Heart, Lung, and Blood Institute (NHLBI)
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Principal Investigator: Michael Knowles, MD University of North Carolina, Chapel Hill
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Responsible Party: University of North Carolina, Chapel Hill Identifier: NCT02389049    
Other Study ID Numbers: 14-1225
U54HL096458-11 ( U.S. NIH Grant/Contract )
First Posted: March 17, 2015    Key Record Dates
Last Update Posted: September 25, 2019
Last Verified: September 2019
Keywords provided by University of North Carolina, Chapel Hill:
Primary Ciliary Dyskinesia
Kartagener Syndrome
Additional relevant MeSH terms:
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Ciliary Motility Disorders
Kartagener Syndrome
Movement Disorders
Central Nervous System Diseases
Nervous System Diseases
Neurologic Manifestations
Respiratory Tract Diseases
Otorhinolaryngologic Diseases
Abnormalities, Multiple
Congenital Abnormalities
Genetic Diseases, Inborn
Bronchial Diseases
Respiratory System Abnormalities
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases
Situs Inversus