Early Detection and Characterization of Primary Ciliary Dyskinesia

Primary Ciliary Dyskinesia Clinical Trial

Official title:

The Israeli National Consortium for Early Detection and Characterization of Primary Ciliary Dyskinesia

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT01070914
• Other study ID #: Hackmon-2
• Status: Recruiting
• Phase: N/A
• First received: February 6, 2010
• Last updated: May 7, 2012
• Start date: June 2011
• Est. completion date: June 2013

Study information

• Verified date: May 2012
• Source: Ziv Hospital
• Contact: Israel Amirav, MD
• Phone: 97246828712
• Email: amirav[@]012.net.il
• Is FDA regulated: No
• Health authority: Israel: Ministry of Health
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 130
• Est. completion date: June 2013
• Est. primary completion date: December 2012
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• Patients with PCD diagnosis

• Subjects with suspected diagnosis of PCD

Exclusion Criteria:

• Subjects Uncooperative with study procedures

Study Design

Observational Model: Case-Only, Time Perspective: Cross-Sectional

Related Conditions & MeSH terms

• Ciliary Motility Disorders
• Dyskinesias
• Kartagener Syndrome
• Primary Ciliary Dyskinesia

Locations

Country	Name	City	State
Israel	Ziv Medical center	Safed

Sponsors (10)

Lead Sponsor	Collaborator
Ziv Hospital	Assaf-Harofeh Medical Center, Hadassah Medical Organization, Rambam Health Care Campus, Schneider Children's Medical Center, Israel, Shaare Zedek Medical Center, Sheba Medical Center, Soroka University Medical Center, Tel-Aviv Sourasky Medical Center, The Nazareth Hospital, Israel

Country where clinical trial is conducted

Israel, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Phenotypic and genetic characterization		2 years	No