Diagnosis of Primary Ciliary Dyskinesia (DCP)

This study has been completed.
Sponsor:
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier:
NCT00783887
First received: October 31, 2008
Last updated: August 6, 2013
Last verified: August 2013
  Purpose

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.


Condition Intervention
Primary Ciliary Dyskinesia
Kartagener Syndrome
Other: Blood sample

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Cross-Sectional
Official Title: Molecular Diagnosis of Primary Ciliary Dyskinesia

Resource links provided by NLM:


Further study details as provided by Assistance Publique - Hôpitaux de Paris:

Primary Outcome Measures:
  • 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 ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • Complementary ciliary investigations in patients with suspected primary ciliary dyskinesia. [ Time Frame: At the inclusion visit ] [ Designated as safety issue: Yes ]

Biospecimen Retention:   Samples With DNA

DNA, Serum, White blood cells


Enrollment: 125
Study Start Date: January 2010
Study Completion Date: December 2012
Primary Completion Date: December 2012 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
1
Patients with suspected or confirmed primary ciliary dyskinesia after ciliary investigations who accepted to participate to the genetic studies
Other: Blood sample
Blood sample of 5 ml
Other Name: Blood sample

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.

  Eligibility

Ages Eligible for Study:   1 Month and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Patients with suspected or confirmed primary ciliary dyskinesia (followed by the participating centers)

Criteria

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.
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00783887

Locations
France
Hôpital A. Trousseau, Service de Génétique et d'Embryologie Médicales
Paris, France, 75012
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Investigators
Principal Investigator: Serge AMSELEM, MD PhD Assistance Publique - Hôpitaux de Paris
  More Information

Publications:

Responsible Party: Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier: NCT00783887     History of Changes
Other Study ID Numbers: AOM 06053
Study First Received: October 31, 2008
Last Updated: August 6, 2013
Health Authority: France: Ministry of Health

Keywords provided by Assistance Publique - Hôpitaux de Paris:
Cilia
Axoneme
Dynein
Gene
Ultrastructure
Linkage analysis

Additional relevant MeSH terms:
Ciliary Motility Disorders
Kartagener Syndrome
Dyskinesias
Respiratory Tract Diseases
Otorhinolaryngologic Diseases
Bronchiectasis
Bronchial Diseases
Respiratory System Abnormalities
Dextrocardia
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases
Congenital Abnormalities
Situs Inversus
Genetic Diseases, Inborn
Movement Disorders
Central Nervous System Diseases
Nervous System Diseases
Neurologic Manifestations
Signs and Symptoms

ClinicalTrials.gov processed this record on April 21, 2014