Screening for Primary Ciliary Dyskinesia Using Nasal Nitric Oxide

NCT00739817 | Unknown

• 1 other identifier: HP-6-199-R
• Study Type: observational
• Target: 6,000
• Locations: 1 country
• Sites: 1

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

Outcome Measures

Primary Outcomes (1)

• Nasal NO < 105 ppb

  at enrollment

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

community

You may qualify if:

• Voluntary willing to participate

You may not qualify if:

• Recent URTI
• Steroids use 2 weeks prior to testing

Sponsors & Collaborators

• Ziv Hospital: lead

Study Sites (1)

Pediatric Department, Ziv Medical Center

Safed, Israel

Location

MeSH Terms

Conditions

Ciliary Motility Disorders

Condition Hierarchy (Ancestors)

Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Ciliopathies; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Central Study Contacts

Israel Amirav, MD

CONTACT

97246828712; amirav@012.net.il

Study Design

• Study Type: observational
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER GOV

Study Record Dates

• First Submitted: August 21, 2008
• First Posted: August 22, 2008
• Study Start: July 1, 2010
• Last Updated: August 18, 2009

Record last verified: 2009-08

Locations

IL (1)