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Sponsored by: |
Assistance Publique - Hôpitaux de Paris |
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Information provided by: | Assistance Publique - Hôpitaux de Paris |
ClinicalTrials.gov Identifier: | NCT00783887 |
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 |
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Primary Ciliary Dyskinesia Kartagener Syndrome |
Other: Blood sample |
Study Type: | Observational |
Study Design: | Family-Based, Cross-Sectional |
Official Title: | Molecular Diagnosis of Primary Ciliary Dyskinesia |
DNA, Serum, White blood cells
Estimated Enrollment: | 405 |
Study Start Date: | January 2009 |
Estimated Study Completion Date: | December 2011 |
Estimated Primary Completion Date: | June 2011 (Final data collection date for primary outcome measure) |
Groups/Cohorts | Assigned Interventions |
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1
Patients with suspected or confirmed primary ciliary dyskinesia after ciliary investigations who accepted to participate to the genetic studies
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Other: Blood sample
Blood sample of 5 ml
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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.
Ages Eligible for Study: | 1 Month to 65 Years |
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
Patients with suspected or confirmed primary ciliary dyskinesia (followed by the participating centers)
Inclusion Criteria:
Exclusion Criteria:
Contact: Serge AMSELEM, MD, PhD | +33 (0) 1 44 73 52 39 | serge.amselem@trs.aphp.fr |
Contact: Estelle ESCUDIER, MD | +33 (0) 1 44 73 52 39 | estelle.escudier@trs.aphp.fr |
France | |
Hôpital A. Trousseau, Service de Génétique et d'Embryologie Médicales | |
Paris, France, 75012 |
Principal Investigator: | Serge AMSELEM, MD PhD | Assistance Publique - Hôpitaux de Paris |
Responsible Party: | Department Clinical Research of Developpement ( Myriem Carrier ) |
Study ID Numbers: | AOM 06053 |
Study First Received: | October 31, 2008 |
Last Updated: | October 31, 2008 |
ClinicalTrials.gov Identifier: | NCT00783887 |
Health Authority: | France: Ministry of Health |
Cilia Axoneme Dynein |
Gene Ultrastructure Linkage analysis |
Otorhinolaryngologic Diseases Heart Diseases Primary ciliary dyskinesia Cardiovascular Abnormalities Bronchiectasis Central Nervous System Diseases Situs Inversus Dyskinesias Kartagener Syndrome Dextrocardia |
Kartagener syndrome Situs inversus viscerum Signs and Symptoms Respiratory Tract Diseases Genetic Diseases, Inborn Movement Disorders Ciliary Motility Disorders Neurologic Manifestations Congenital Abnormalities Heart Defects, Congenital |
Respiratory System Abnormalities Pathologic Processes Disease Bronchial Diseases |
Syndrome Nervous System Diseases Cardiovascular Diseases |