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Early Detection and Characterization of Primary Ciliary Dyskinesia

2014-08-27 03:15:49 | BioPortfolio

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.

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 Design

Observational Model: Case-Only, Time Perspective: Cross-Sectional

Conditions

Primary Ciliary Dyskinesia

Location

Ziv Medical center
Safed
Israel
13100

Status

Not yet recruiting

Source

Ziv Hospital

Results (where available)

View Results

Links

Published on BioPortfolio: 2014-08-27T03:15:49-0400

Clinical Trials [86 Associated Clinical Trials listed on BioPortfolio]

Genetic Study of Patients With Primary Ciliary Dyskinesia

OBJECTIVES: I. Characterize the clinical presentation of patients with primary ciliary dyskinesia. II. Identify the genetic mutations associated with this disease.

Registry for Primary Ciliary Dyskinesia

Primary Ciliary Dyskinesia (PCD) is a rare disease, which means that any single PCD center has experience with a limited number of patients. PCD Registry is the collection of data about PC...

Evaluating Progression of and Diagnostic Tools for Primary Ciliary Dyskinesia in Children and Adolescents

Mucociliary clearance, in which mucus secretions are cleared from the breathing airways, is the primary defense mechanism for the lungs. Inhaled particles, including microbes that can caus...

Genetics of Primary Ciliary Dyskinesia

This study is designed to study DNA sequencings for mutations in a research genetic test panel of genes (which contains all 32 known and/or published genes associated with PCD). The study ...

In Vivo Measurements of Nasal Ciliary Beat Frequency by Using Interferometry

1. Assessment of a high speed video camera with a green light source for the measurement of ciliary beat frequency (CBF) in the nasal airways of patients. 2. Assessments of the eff...

PubMed Articles [6085 Associated PubMed Articles listed on BioPortfolio]

Secondary defects detected by transmission electron microscopy in primary ciliary dyskinesia diagnostics.

Primary ciliary dyskinesia (PCD) is predominantly an autosomal recessively inherited condition that affects ~1 in 15,000 people. Diagnosis of PCD can be complex and is ordinarily based on the results ...

Computed tomography in adult patients with primary ciliary dyskinesia: Typical imaging findings.

Among patients with non-cystic fibrosis bronchiectasis, 1-18% have an underlying diagnosis of primary ciliary dyskinesia (PCD) and it is suspected that there is under-recognition of this disease. Our ...

Analysis of Otologic Features of Patients With Primary Ciliary Dyskinesia.

To evaluate otologic features of primary ciliary dyskinesia (PCD), especially eardrum features, audiometric findings, and clinical course.

No evidence of cholesteatoma in untreated otitis media with effusion in children with primary ciliary dyskinesia.

Primary Ciliary Dyskinesia (PCD) describes a group of inherited disorders that result in abnormal ciliary motion leading to mucous stasis. Clinical features include almost universally otitis media wit...

The sense of smell in primary ciliary dyskinesia.

Medical and Biotech [MESH] Definitions

Abnormal involuntary movements which primarily affect the extremities, trunk, or jaw that occur as a manifestation of an underlying disease process. Conditions which feature recurrent or persistent episodes of dyskinesia as a primary manifestation of disease may be referred to as dyskinesia syndromes (see MOVEMENT DISORDERS). Dyskinesias are also a relatively common manifestation of BASAL GANGLIA DISEASES.

A motility disorder characterized by biliary COLIC, absence of GALLSTONES, and an abnormal GALLBLADDER ejection fraction. It is caused by gallbladder dyskinesia and/or SPHINCTER OF ODDI DYSFUNCTION.

A ring of tissue extending from the scleral spur to the ora serrata of the retina. It consists of the uveal portion and the epithelial portion. The ciliary muscle is in the uveal portion and the ciliary processes are in the epithelial portion.

Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms.

A ciliary neurotrophic factor receptor subunit. It is anchored to the cell surface via GLYCOSYLPHOSPHATIDYLINOSITOL LINKAGE and has specificity for binding to CILIARY NEUROTROPHIC FACTOR. It lacks signal transducing domains which are found on the other two subunits of the receptor.

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