Clinical Trial: Diagnosis of Primary Ciliary Dyskinesia

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

Official Title: Molecular Diagnosis of Primary Ciliary Dyskinesia

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 Summary: 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.
Sponsor: Assistance Publique - Hôpitaux de Paris

Current Primary Outcome: 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 ]

Original Primary Outcome: Same as current

Current Secondary Outcome: Complementary ciliary investigations in patients with suspected primary ciliary dyskinesia. [ Time Frame: At the inclusion visit ]

Original Secondary Outcome: Same as current

Information By: Assistance Publique - Hôpitaux de Paris

Dates:
Date Received: October 31, 2008
Date Started: January 2010
Date Completion:
Last Updated: August 6, 2013
Last Verified: August 2013