Status:
COMPLETED
Diagnosis of Primary Ciliary Dyskinesia
Lead Sponsor:
Assistance Publique - Hôpitaux de Paris
Conditions:
Primary Ciliary Dyskinesia
Kartagener Syndrome
Eligibility:
All Genders
1+ years
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 extremel...
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 ge...
Eligibility Criteria
Inclusion
- Patients with suspected or confirmed primary ciliary dyskinesia after ciliary investigations who accepted to participate to the genetic studies.
Exclusion
- Patients with exclusion of primary ciliary dyskinesia after ciliary investigations.
Key Trial Info
Start Date :
January 1 2010
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
December 1 2012
Estimated Enrollment :
125 Patients enrolled
Trial Details
Trial ID
NCT00783887
Start Date
January 1 2010
End Date
December 1 2012
Last Update
August 7 2013
Active Locations (1)
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1
Hôpital A. Trousseau, Service de Génétique et d'Embryologie Médicales
Paris, France, 75012