Clinical trial NCT01070914: Early Detection and Characterization of Primary Ciliary Dyskinesia
Official title: The Israeli National Consortium for Early Detection and Characterization of Primary Ciliary Dyskinesia
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Primary Ciliary Dyskinesia
Keywords: Cilia
Phenotyping
Diagnosis
Nitric Oxide
Bronchiectasis
Lead sponsor: Ziv Hospital
Sponsor class: OTHER_GOV
Collaborators: name: Rambam Health Care Campus
name: Hadassah Medical Organization
name: Tel-Aviv Sourasky Medical Center
name: Sheba Medical Center
name: Assaf-Harofeh Medical Center
name: The Nazareth Hospital, Israel
name: Soroka University Medical Center
name: Shaare Zedek Medical Center
name: Schneider Children's Medical Center, Israel
First posted: 2010-02-18
Enrollment: 130
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Residents of Israel

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.

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.

Eligibility criteria: Inclusion Criteria:

* Patients with PCD diagnosis
* Subjects with suspected diagnosis of PCD

Exclusion Criteria:

* Subjects Uncooperative with study procedures

Primary outcomes:
measure: Phenotypic and genetic characterization
timeFrame: 2 years
Secondary outcomes:
Other outcomes:
Locations:
city: Safed
country: Israel
facility: Ziv Medical center
Study officials:
affiliation: Ziv Medical Center
name: Israel Amirav, MD
role: PRINCIPAL_INVESTIGATOR
References:
citation: Amirav I, Mussaffi H, Roth Y, Schmidts M, Omran H, Werner C; Israeli PCD Consortium Investigators. A reach-out system for video microscopy analysis of ciliary motions aiding PCD diagnosis. BMC Res Notes. 2015 Mar 8;8:71. doi: 10.1186/s13104-015-0999-x.