Diagnosis of Primary Ciliary Dyskinesia (DCP)

Assistance Publique - Hôpitaux de Paris

Status: Completed

Conditions: Kartagener Syndrome; Primary Ciliary Dyskinesia

Treatments: Other: Blood sample

Study type: Observational

Funder types: Other

Identifiers

NCT00783887

AOM 06053

Details and patient eligibility

About

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.

Full 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.

Enrollment: 125 patients

Sex: All

Ages: 1+ month old

Volunteers: No Healthy Volunteers

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.

Trial design

125 participants in 1 patient group

1

Description:

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

Treatment:

Other: Blood sample