Early Detection and Characterization of Primary Ciliary Dyskinesia

NCT ID: NCT01070914

Last Updated: 2012-05-08

Basic Information

• Recruitment Status: UNKNOWN
• Total Enrollment: 130 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2011-06-30
• Study Completion Date: 2013-06-30

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.

Conditions

Primary Ciliary Dyskinesia

Study Design

• Observational Model Type: CASE_ONLY
• Study Time Perspective: CROSS_SECTIONAL

Eligibility Criteria

Inclusion Criteria

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

Exclusion Criteria

• Subjects Uncooperative with study procedures

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Rambam Health Care Campus

OTHER

Sponsor Role: collaborator

Hadassah Medical Organization

OTHER

Sponsor Role: collaborator

Tel-Aviv Sourasky Medical Center

OTHER_GOV

Sponsor Role: collaborator

Sheba Medical Center

OTHER_GOV

Sponsor Role: collaborator

Assaf-Harofeh Medical Center

OTHER_GOV

Sponsor Role: collaborator

The Nazareth Hospital, Israel

OTHER

Sponsor Role: collaborator

Soroka University Medical Center

OTHER

Sponsor Role: collaborator

Shaare Zedek Medical Center

OTHER

Sponsor Role: collaborator

Schneider Children's Medical Center, Israel

OTHER

Sponsor Role: collaborator

Ziv Hospital

OTHER_GOV

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Israel Amirav, MD

Role: PRINCIPAL_INVESTIGATOR

Ziv Medical Center

Locations

Ziv Medical center

Safed, , Israel

Site Status: RECRUITING

Countries

Israel

Central Contacts

Israel Amirav, MD

Role: CONTACT

amirav@012.net.il

97246828712

References

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.

Reference Type: DERIVED

PMID: 25869032 (View on PubMed)

Other Identifiers

Hackmon-2

Identifier Type: -

Identifier Source: org_study_id