Primary Ciliary Dyskinesia | Early Detection and Characterization of Primary Ciliary Dyskinesia

Primary Ciliary Dyskinesia research study

What is the primary objective of this study?

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.

Who is eligible to participate?

Inclusion Criteria: - Patients with PCD diagnosis - Subjects with suspected diagnosis of PCD Exclusion Criteria: - Subjects Uncooperative with study procedures

Which medical condition, disease, disorder, syndrome, illness, or injury is researched?

Primary Ciliary Dyskinesia

Study Interventions

Interventions can include giving participants drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available or noninvasive approaches such as surveys, education, and interviews.

Study Arms

Research studies and clinical trials typically have two or more research arms. An arm is a group of people who receive the same treatment in the study.

Study Status

Unknown status

Start Date: June 2011

Completed Date: June 2013


Type: Observational


Primary Outcome: Phenotypic and genetic characterization

Secondary Outcome:

Study sponsors, principal investigator, and references

Principal Investigator: Israel Amirav, MD

Lead Sponsor: Ziv Hospital

Collaborator: Rambam Health Care Campus

More information:

Discuss Dyskinesia