NCT00783887

Diagnosis of Primary Ciliary Dyskinesia

Molecular Diagnosis of Primary Ciliary Dyskinesia

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 125 (actual)
• Sponsor: Assistance Publique - Hôpitaux de Paris · Academic / Other
• Sex: All
• Age: 1 Month
• Healthy volunteers: Not accepted

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.

Conditions

• Primary Ciliary Dyskinesia
• Kartagener Syndrome

Interventions

Type	Name	Description
OTHER	Blood sample	Blood sample of 5 ml

Timeline

• Start date: 2010-01-01
• Primary completion: 2012-12-01
• Completion: 2012-12-01
• First posted: 2008-11-03
• Last updated: 2013-08-07

Locations

1 site across 1 country: France