Early Detection and Characterization of Primary Ciliary Dyskinesia

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

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.

Study Overview

• Status: Unknown
• Conditions: 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
• Enrollment (Anticipated): 130

Contacts and Locations

• Study Contact: Name: Israel Amirav, MD; Phone Number: 97246828712; Email: amirav@012.net.il

Study Locations

• Israel
  • Safed, Israel, 13100
    • Recruiting
    • Ziv Medical Center
    • Principal Investigator: Israel Amirav, MD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Residents of Israel

Description

Inclusion Criteria:

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

Exclusion Criteria:

• Subjects Uncooperative with study procedures

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Phenotypic and genetic characterization	2 years

Collaborators and Investigators

• Sponsor: Ziv Hospital
• Collaborators: Rambam Health Care Campus; Hadassah Medical Organization; Assaf-Harofeh Medical Center; Tel-Aviv Sourasky Medical Center; Sheba Medical Center; Shaare Zedek Medical Center; Soroka University Medical Center; Schneider Children's Medical Center, Israel; The Nazareth Hospital, Israel
• Investigators: Principal Investigator: Israel Amirav, MD, Ziv Medical Center

Publications and helpful links

General Publications

• 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.

Study record dates

Study Major Dates

• Study Start: June 1, 2011
• Primary Completion (Anticipated): December 1, 2012
• Study Completion (Anticipated): June 1, 2013

Study Registration Dates

• First Submitted: February 6, 2010
• First Submitted That Met QC Criteria: February 17, 2010
• First Posted (Estimate): February 18, 2010

Study Record Updates

• Last Update Posted (Estimate): May 8, 2012
• Last Update Submitted That Met QC Criteria: May 7, 2012
• Last Verified: May 1, 2012

More Information

Terms related to this study

• Keywords: Diagnosis; Bronchiectasis; Phenotyping; Nitric Oxide; Cilia
• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Respiratory Tract Diseases; Neurologic Manifestations; Congenital Abnormalities; Genetic Diseases, Inborn; Otorhinolaryngologic Diseases; Movement Disorders; Abnormalities, Multiple; Ciliopathies; Dyskinesias; Ciliary Motility Disorders
• Other Study ID Numbers: Hackmon-2