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Diagnosis of Primary Ciliary Dyskinesia — DCP  

Primary Ciliary Dyskinesia Clinical Trial

Official title:
Molecular Diagnosis of Primary Ciliary Dyskinesia

Clinical Trial 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.

Clinical Trial 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 Design

Observational Model: Family-Based, Time Perspective: Cross-Sectional

Related Conditions & MeSH terms

Clinical Trial Details
NCT number NCT00783887
Study type Observational
Source Assistance Publique - Hôpitaux de Paris
Contact
Status Completed
Phase N/A
Start date January 2010
Completion date December 2012
View Details
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