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Early Detection and Characterization of Primary Ciliary Dyskinesia

NCT01070914 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 130

Last updated 2012-05-08

No results posted yet for this study

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

Sponsors & Collaborators

  • Rambam Health Care Campus

    collaborator OTHER

  • Hadassah Medical Organization

    collaborator OTHER

  • Tel-Aviv Sourasky Medical Center

    collaborator OTHER_GOV

  • Sheba Medical Center

    collaborator OTHER_GOV

  • Assaf-Harofeh Medical Center

    collaborator OTHER_GOV

  • The Nazareth Hospital, Israel

    collaborator OTHER

  • Soroka University Medical Center

    collaborator OTHER

  • Shaare Zedek Medical Center

    collaborator OTHER

  • Schneider Children's Medical Center, Israel

    collaborator OTHER

  • Ziv Hospital

    lead OTHER_GOV

Principal Investigators

  • Israel Amirav, MD · Ziv Medical Center

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2011-06-30
Primary Completion
2012-12-31
Completion
2013-06-30

Countries

  • Israel

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01070914 on ClinicalTrials.gov