Screening for Primary Ciliary Dyskinesia Using Nasal Nitric Oxide

NCT ID: NCT00739817

Last Updated: 2009-08-18

Basic Information

• Recruitment Status: UNKNOWN
• Total Enrollment: 6000 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2010-07-31

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.

Conditions

Primary Ciliary Dyskinesia

Study Design

• Study Time Perspective: PROSPECTIVE

Eligibility Criteria

Inclusion Criteria

• Voluntary willing to participate

Exclusion Criteria

• Recent URTI
• Steroids use 2 weeks prior to testing

• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Ziv Hospital

OTHER_GOV

Sponsor Role: lead

Responsible Party

Ziv Medical center

Locations

Pediatric Department, Ziv Medical Center

Safed, , Israel

Countries

Israel

Central Contacts

Israel Amirav, MD

Role: CONTACT

amirav@012.net.il

97246828712

Facility Contacts

Israel Amirav, MD

Role: primary

amirav@012.net.il

9726828712

Other Identifiers

HP-6-199-R

Identifier Type: -

Identifier Source: org_study_id