Diagnosis of Primary Ciliary Dyskinesia

Primary Ciliary Dyskinesia Clinical Trial

— DCP  

Official title:

Molecular Diagnosis of Primary Ciliary Dyskinesia

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00783887
• Other study ID #: AOM 06053
• Status: Completed
• Phase: N/A
• First received: October 31, 2008
• Last updated: August 6, 2013
• Start date: January 2010
• Est. completion date: December 2012

Study information

• Verified date: August 2013
• Source: Assistance Publique - Hôpitaux de Paris
• Contact: n/a
• Is FDA regulated: No
• Health authority: France: Ministry of Health
• Study type: Observational

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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 125
• Est. completion date: December 2012
• Est. primary completion date: December 2012
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 1 Month and older

Eligibility

Inclusion Criteria:

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

Exclusion Criteria:

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

Study Design

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

Related Conditions & MeSH terms

• Ciliary Motility Disorders
• Dyskinesias
• Kartagener Syndrome
• Primary Ciliary Dyskinesia

Intervention

Other:
• Blood sample
Blood sample of 5 ml

Locations

Country	Name	City	State
France	Hôpital A. Trousseau, Service de Génétique et d'Embryologie Médicales	Paris

Sponsors (1)

Lead Sponsor	Collaborator
Assistance Publique - Hôpitaux de Paris

Country where clinical trial is conducted

France, 

References & Publications (37)

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* Note: There are 37 references in all — Click here to view all references

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	No
Secondary	Complementary ciliary investigations in patients with suspected primary ciliary dyskinesia.		At the inclusion visit	Yes