Screening for Primary Ciliary Dyskinesia Using Nasal Nitric Oxide

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.

Study Overview

• Status: Unknown
• Conditions: Primary Ciliary Dyskinesia

• Study Type: Observational
• Enrollment (Anticipated): 6000

Contacts and Locations

• Study Contact: Name: Israel Amirav, MD; Phone Number: 97246828712; Email: amirav@012.net.il

Study Locations

• Israel
  • Safed, Israel
    • Pediatric Department, Ziv Medical Center
    • Contact: Israel Amirav, MD; Phone Number: 9726828712; Email: amirav@012.net.il

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

community

Description

Inclusion Criteria:

• Voluntary willing to participate

Exclusion Criteria:

• Recent URTI
• Steroids use 2 weeks prior to testing

Study Plan

How is the study designed?

Design Details

• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Nasal NO < 105 ppb	at enrollment

Collaborators and Investigators

• Sponsor: Ziv Hospital

Study record dates

Study Major Dates

• Study Start: July 1, 2010

Study Registration Dates

• First Submitted: August 21, 2008
• First Submitted That Met QC Criteria: August 21, 2008
• First Posted (Estimate): August 22, 2008

Study Record Updates

• Last Update Posted (Estimate): August 18, 2009
• Last Update Submitted That Met QC Criteria: August 15, 2009
• Last Verified: August 1, 2009

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Respiratory Tract Diseases; Neurologic Manifestations; Congenital Abnormalities; Genetic Diseases, Inborn; Otorhinolaryngologic Diseases; Movement Disorders; Abnormalities, Multiple; Ciliopathies; Dyskinesias; Ciliary Motility Disorders
• Other Study ID Numbers: HP-6-199-R