Screening for Primary Ciliary Dyskinesia Using Nasal Nitric Oxide

Status Not yet recruiting

Clinical Trial Summary

Background: Primary ciliary dyskinesia (PCD) is a rare genetic disease characterised by recurrent respiratory infections and subfertility due to dysfunction of cilia (brushes) of the lining cells. Undiagnosed and untreated it can result in an irreversible crippling chronic lung disease. The diagnosis of PCD is a difficult one and involves the complex assessment of ciliary structure and function. Thus, PCD is under diagnosed and appropriate preventative and symptomatic treatment may be denied in many patients. In addition, the gene responsible for PCD is at present unknown, thus preventing pre-natal diagnosis and genetic counseling.

Working hypothesis and aims: Recently, it has become apparent that the evaluation of nasally expired nitric oxide (NO) constitutes a simple and non-invasive diagnostic method, which discriminates between PCD patients, PCD carriers and healthy controls at high rate of specificity and sensitivity. Testing is simple and last approximately one minute. We have recently identified a unique isolated Druze population with high prevalence of PCD. The high frequency of disease places this closed community at a high risk of undiagnosed PCD.

The aim of this project is to use nasal NO measurement as a screening tool to identify possible undiagnosed cases of PCD and PCD carriers in this high risk Druze population.

Clinical Trial Description

n/a

Study Design

Time Perspective: Prospective

Related Conditions & MeSH terms

Clinical Trial Details

NCT number	NCT00739817
Study type	Observational
Source	Ziv Hospital
Contact	Israel Amirav, MD
Phone	97246828712
Email	amirav@012.net.il
Status	Not yet recruiting
Phase	N/A
Start date	July 2010

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