Diagnosis of Primary Ciliary Dyskinesia

Completed

• Conditions: Kartagener Syndrome; Primary Ciliary Dyskinesia
• Interventions: Other: Blood sample

• Registration Number: NCT00783887
• Lead Sponsor: Assistance Publique - Hôpitaux de Paris

Brief Summary

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.

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 Timeline

• Study First Submitted: 2008-10-31
• Study First Submitted QC: 2008-10-31
• Study First Posted: 2008-11-02
• Study Start: 2010-01
• Primary Completion: 2012-12
• Study Completion: 2012-12
• Status Verified: 2013-08
• Last Update Submitted: 2013-08-06
• Last Update Posted: 2013-08-07

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 125

Inclusion Criteria

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

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Exclusion Criteria

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

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
1	Blood sample	Patients with suspected or confirmed primary ciliary dyskinesia after ciliary investigations who accepted to participate to the genetic studies

Primary Outcome Measures

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

Secondary Outcome Measures

Name	Time	Method
Complementary ciliary investigations in patients with suspected primary ciliary dyskinesia.	At the inclusion visit

Trial Locations

Locations (1)

Hôpital A. Trousseau, Service de Génétique et d'Embryologie Médicales; 🇫🇷 Paris, France