Early Detection and Characterization of Primary Ciliary Dyskinesia

NCT01070914 | Unknown

• 1 other identifier: Hackmon-2
• Study Type: observational
• Target: 130
• Locations: 1 country
• Sites: 1

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.

Conditions

Primary Ciliary Dyskinesia

Keywords

Cilia; Phenotyping; Diagnosis; Nitric Oxide; Bronchiectasis

Outcome Measures

Primary Outcomes (1)

• Phenotypic and genetic characterization

  2 years

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Residents of Israel

You may qualify if:

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

You may not qualify if:

• Subjects Uncooperative with study procedures

Sponsors & Collaborators

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

Study Sites (1)

Ziv Medical center

Safed, 13100, Israel

RECRUITING

Related Publications (1)

• 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.

  PMID: 25869032 DERIVED

MeSH Terms

Conditions

Ciliary Motility Disorders; Disease; Bronchiectasis

Condition Hierarchy (Ancestors)

Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Ciliopathies; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Bronchial Diseases

Study Officials

• Israel Amirav, MD

  Ziv Medical Center

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Israel Amirav, MD

CONTACT

97246828712; amirav@012.net.il

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 6, 2010
• First Posted: February 18, 2010
• Study Start: June 1, 2011
• Primary Completion: December 1, 2012
• Study Completion: June 1, 2013
• Last Updated: May 8, 2012

Record last verified: 2012-05

Locations

IL (1)