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Early Detection and Characterization of Primary Ciliary Dyskinesia

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ClinicalTrials.gov Identifier: NCT01070914
Recruitment Status : Unknown
Verified May 2012 by Ziv Hospital.
Recruitment status was:  Recruiting
First Posted : February 18, 2010
Last Update Posted : May 8, 2012
Sponsor:
Collaborators:
Rambam Health Care Campus
Hadassah Medical Organization
Tel-Aviv Sourasky Medical Center
Sheba Medical Center
Assaf-Harofeh Medical Center
The Nazareth Hospital, Israel
Soroka University Medical Center
Shaare Zedek Medical Center
Schneider Children's Medical Center, Israel
Information provided by (Responsible Party):
Ziv Hospital

Brief Summary:
Primary Ciliary Dyskinesia (PCD) is a severe genetic disorder caused by various mutations in genes affecting ciliary motility. Various new and complementary diagnostic techniques, including measurements of nasal nitric oxide (NO), Video Microscopy (VM), Immunoflourescence (IF) and genetic analysis have recently been recognized as simpler and more accurate modalities for the diagnosis and characterization of patients with PCD compared to electron microscopy. While considered a rare disease worldwide, PCD is more prevalent among highly consanguineous populations, such as those found in Israel. We hypothesize that using modern state of the art and novel test modalities on a national scale in Israel will improve diagnosis, improve phenotypic-genotypic correlations and create a national registry for PCD.

Condition or disease
Primary Ciliary Dyskinesia

Detailed Description:

Primary Ciliary Dyskinesia (PCD) is a severe genetic disorder caused by various mutations in genes affecting ciliary motility. While diagnosis of PCD in Israel is currently based for the most part on electron microscopy (EM) detection of ciliary ultrastructural defects, this technique may be unsatisfactory and does not overcome the inherent heterogeneity. Thus, late and under-diagnosis and suboptimal characterization of patients is common. Various newer and complementary diagnostic techniques, including measurements of nasal nitric oxide (NO), Video Microscopy (VM), Immunoflourescence (IF) and genetic analysis have recently been recognized as simpler and more accurate modalities for the diagnosis and characterization of patients with PCD. While considered a rare disease worldwide, PCD is more prevalent among highly consanguineous populations, such as those found in Israel. Given the rarity of cases particularly familial ones, the most useful implementation of new diagnostic techniques requires multicenter collaboration.

We hypothesize that using modern state of the art and novel test modalities on a national scale in Israel will improve diagnosis, improve phenotypic-genotypic correlations and create a national registry for PCD.

We propose to perform such a multicenter study whose aims are:

  • To characterize the complex phenotype and genotype of PCD in Israel, using state-of-the-art and novel diagnostic techniques.
  • To create a national registry of patients and families with PCD in Israel
  • To develop robust national standards of diagnosis and evaluation, which will lead to better and earlier diagnosis, treatment and counseling.

Study Type : Observational
Estimated Enrollment : 130 participants
Observational Model: Case-Only
Time Perspective: Cross-Sectional
Official Title: The Israeli National Consortium for Early Detection and Characterization of Primary Ciliary Dyskinesia
Study Start Date : June 2011
Estimated Primary Completion Date : December 2012
Estimated Study Completion Date : June 2013





Primary Outcome Measures :
  1. Phenotypic and genetic characterization [ Time Frame: 2 years ]


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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Residents of Israel
Criteria

Inclusion Criteria:

  • Patients with PCD diagnosis
  • Subjects with suspected diagnosis of PCD

Exclusion Criteria:

  • Subjects Uncooperative with study procedures

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01070914


Contacts
Contact: Israel Amirav, MD 97246828712 amirav@012.net.il

Locations
Israel
Ziv Medical center Recruiting
Safed, Israel, 13100
Principal Investigator: Israel Amirav, MD         
Sponsors and Collaborators
Ziv Hospital
Rambam Health Care Campus
Hadassah Medical Organization
Tel-Aviv Sourasky Medical Center
Sheba Medical Center
Assaf-Harofeh Medical Center
The Nazareth Hospital, Israel
Soroka University Medical Center
Shaare Zedek Medical Center
Schneider Children's Medical Center, Israel
Investigators
Principal Investigator: Israel Amirav, MD Ziv Medical Center

Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Responsible Party: Ziv Hospital
ClinicalTrials.gov Identifier: NCT01070914     History of Changes
Other Study ID Numbers: Hackmon-2
First Posted: February 18, 2010    Key Record Dates
Last Update Posted: May 8, 2012
Last Verified: May 2012

Keywords provided by Ziv Hospital:
Cilia
Phenotyping
Diagnosis
Nitric Oxide
Bronchiectasis

Additional relevant MeSH terms:
Dyskinesias
Ciliary Motility Disorders
Kartagener Syndrome
Movement Disorders
Central Nervous System Diseases
Nervous System Diseases
Neurologic Manifestations
Signs and Symptoms
Respiratory Tract Diseases
Otorhinolaryngologic Diseases
Ciliopathies
Abnormalities, Multiple
Congenital Abnormalities
Genetic Diseases, Inborn
Bronchiectasis
Bronchial Diseases
Respiratory System Abnormalities
Dextrocardia
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases
Situs Inversus