Clinical Trial: Genetics of Primary Ciliary Dyskinesia
Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational
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 Summary:
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.
Sponsor: University of North Carolina, Chapel Hill
Current Primary Outcome: Confirm PCD diagnosis in patients using a panel of 32 genes [ Time Frame: Up to 5 years ]
Original Primary Outcome: Determination of the percent of confirmed PCD diagnosis in patients using a panel of 32 genes [ Time Frame: Single Collection ]
Current Secondary Outcome: Identify patients with PCD who do not have a biallelic PCD-causing mutation [ Time Frame: Up to 5 years ]
Original Secondary Outcome: Identify patients with PCD who do not have a biallelic PCD-causing mutation [ Time Frame: Signle Collection ]
Information By: University of North Carolina, Chapel Hill
Dates:
Date Received: March 9, 2015
Date Started: February 2015
Date Completion: July 2019
Last Updated: April 17, 2017
Last Verified: April 2017