NCT02389049

Genetics of Primary Ciliary Dyskinesia

Research Genetic Testing for Primary Ciliary Dyskinesia Using a Panel of Genes

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 320 (actual)
• Sponsor: University of North Carolina, Chapel Hill · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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.

Conditions

• Primary Ciliary Dyskinesia
• Kartagener Syndrome

Timeline

• Start date: 2015-02-01
• Primary completion: 2018-07-01
• Completion: 2018-07-01
• First posted: 2015-03-17
• Last updated: 2022-08-10

Locations

8 sites across 2 countries: United States, Canada