Clinical Trial: Screening for Primary Ciliary Dyskinesia Using Nasal Nitric Oxide

Study Status: Completed
Recruit Status: Unknown status
Study Type: Observational

Official Title: Screening for Primary Ciliary Dyskinesia Using Nasal Nitric Oxide

Brief 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.

Detailed Summary:
Sponsor: Ziv Hospital

Current Primary Outcome: Nasal NO < 105 ppb [ Time Frame: at enrollment ]

Original Primary Outcome: Same as current

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Ziv Hospital

Dates:
Date Received: August 21, 2008
Date Started: July 2010
Date Completion:
Last Updated: August 15, 2009
Last Verified: August 2009