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Sponsored by: |
Ziv Hospital |
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Information provided by: | Ziv Hospital |
ClinicalTrials.gov Identifier: | NCT00739817 |
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.
Condition |
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Primary Ciliary Dyskinesia |
Study Type: | Observational |
Study Design: | Prospective |
Official Title: | Screening for Primary Ciliary Dyskinesia Using Nasal Nitric Oxide |
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | Yes |
Sampling Method: | Non-Probability Sample |
community
Inclusion Criteria:
Exclusion Criteria:
Contact: Israel Amirav, MD | 97246828712 | amirav@012.net.il |
Israel | |
Pediatric Department, Ziv Medical Center | |
Safed, Israel |
Responsible Party: | Ziv Medical center ( Israel Amirav ) |
Study ID Numbers: | HP-6-199-R |
Study First Received: | August 21, 2008 |
Last Updated: | August 21, 2008 |
ClinicalTrials.gov Identifier: | NCT00739817 |
Health Authority: | Israel: Ministry of Health |
Otorhinolaryngologic Diseases Heart Diseases Primary ciliary dyskinesia Cardiovascular Abnormalities Bronchiectasis Central Nervous System Diseases Situs Inversus Dyskinesias Kartagener Syndrome Dextrocardia Nitric Oxide |
Kartagener syndrome Situs inversus viscerum Signs and Symptoms Respiratory Tract Diseases Genetic Diseases, Inborn Movement Disorders Ciliary Motility Disorders Neurologic Manifestations Congenital Abnormalities Heart Defects, Congenital |
Respiratory System Agents Vasodilator Agents Respiratory System Abnormalities Neurotransmitter Agents Antioxidants Molecular Mechanisms of Pharmacological Action Bronchial Diseases Nervous System Diseases Physiological Effects of Drugs Anti-Asthmatic Agents |
Cardiovascular Agents Protective Agents Pharmacologic Actions Autonomic Agents Therapeutic Uses Free Radical Scavengers Endothelium-Dependent Relaxing Factors Cardiovascular Diseases Peripheral Nervous System Agents Bronchodilator Agents |