Diagnosis of Primary Ciliary Dyskinesia (DCP)

August 6, 2013 updated by: Assistance Publique - Hôpitaux de Paris

Molecular Diagnosis of Primary Ciliary Dyskinesia

Primary ciliary dyskinesia is an inherited respiratory disease caused by various functional and ultrastructural abnormalities of respiratory cilia. The genetic heterogeneity underlying PCD is extremely important and only few genes are clearly implicated in PCD. Their mutations account for about 20% of patients. For all the other PCD patients, the genes responsible for their ciliary defect remain to be identify.

Study Overview

Status

Completed

Intervention / Treatment

Detailed Description

1/ Evaluating the frequency of mutations of the two main genes implicated in PCD, in a large cohort of patients with PCD confirmed by ciliary investigations.2/ Identifying and testing new candidate genes responsible not only for typical PCD and related disorders of the axoneme, but also for so far-unexplored "syndromic forms of PCD", taking advantage of data obtained through comparative genomic approaches between different species, ciliated or not.

Study Type

Observational

Enrollment (Actual)

125

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

      • Paris, France, 75012
        • Hôpital A. Trousseau, Service de Génétique et d'Embryologie Médicales

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

1 year and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Patients with suspected or confirmed primary ciliary dyskinesia (followed by the participating centers)

Description

Inclusion Criteria:

  • Patients with suspected or confirmed primary ciliary dyskinesia after ciliary investigations who accepted to participate to the genetic studies.

Exclusion Criteria:

  • Patients with exclusion of primary ciliary dyskinesia after ciliary investigations.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Family-Based
  • Time Perspectives: Cross-Sectional

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
1
Patients with suspected or confirmed primary ciliary dyskinesia after ciliary investigations who accepted to participate to the genetic studies
Blood sample of 5 ml

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
After DNA extraction,standard procedures for the identification of human gene mutations will be used for each gene tested in the study
Time Frame: At the inclusion visit
At the inclusion visit

Secondary Outcome Measures

Outcome Measure
Time Frame
Complementary ciliary investigations in patients with suspected primary ciliary dyskinesia.
Time Frame: At the inclusion visit
At the inclusion visit

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Investigators

  • Principal Investigator: Serge AMSELEM, MD PhD, Assistance Publique - Hôpitaux de Paris

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

January 1, 2010

Primary Completion (Actual)

December 1, 2012

Study Completion (Actual)

December 1, 2012

Study Registration Dates

First Submitted

October 31, 2008

First Submitted That Met QC Criteria

October 31, 2008

First Posted (Estimate)

November 2, 2008

Study Record Updates

Last Update Posted (Estimate)

August 7, 2013

Last Update Submitted That Met QC Criteria

August 6, 2013

Last Verified

August 1, 2013

More Information

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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