Genetics of Primary Ciliary Dyskinesia

Descriptive Information
Brief Title † Genetics of Primary Ciliary Dyskinesia
Official Title † Research Genetic Testing for Primary Ciliary Dyskinesia Using a Panel of Genes
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.
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.
Study Phase N/A
Study Type † Observational
Study Design †
Primary Outcome Measure † Confirm PCD diagnosis in patients using a panel of 32 genes
Secondary Outcome Measure † Identify patients with PCD who do not have a biallelic PCD-causing mutation
Condition † Primary Ciliary Dyskinesia Kartagener Syndrome
Intervention †
Study Arms / Comparison Groups
Publications *

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information
Recruitment Status †
Estimated Enrollment † 280
Start Date † February 2015
Completion Date July 2019
Primary Completion Date July 2019
Eligibility Criteria † 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 (
Gender All
Ages N/A - N/A
Accepts Healthy Volunteers No
Contacts †† Kelli M Sullivan, MPH, 919-966-0713,
Location Countries † Canada
Administrative Information
NCT ID † NCT02389049
Organization ID 14-1225
Secondary IDs †† U54HL096458-11
Responsible Party Sponsor
Study Sponsor † University of North Carolina, Chapel Hill
Collaborators †† Rare Diseases Clinical Research Network
Investigators † Principal Investigator: Michael Knowles, MD, University of North Carolina, Chapel Hill
Information Provided By
Verification Date April 2017
First Received Date † March 9, 2015
Last Updated Date April 17, 2017
† Required WHO trial registration data element.
†† WHO trial registration data element that is required only if it exists.
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