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OpenTrials
Completed

NCT Number: NCT00783887

Diagnosis of Primary Ciliary Dyskinesia

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.

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Key information

Conditions

Primary Ciliary Dyskinesia Abnormalities, Multiple Bronchial Diseases Bronchiectasis Cardiovascular Abnormalities Cardiovascular Diseases Ciliary Motility Disorders Ciliopathies Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Dextrocardia Genetic Diseases, Inborn Heart Defects, Congenital Heart Diseases Kartagener Syndrome Otorhinolaryngologic Diseases Respiratory System Abnormalities Respiratory Tract Diseases Situs Inversus

Age range

1 month and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Hôpital A. Trousseau, Service de Génétique et d'Embryologie Médicales

Paris, 75012, France

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

blood sample

Other

Blood sample of 5 ml

Primary outcomes

  1. 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

Secondary outcomes

  1. Complementary ciliary investigations in patients with suspected primary ciliary dyskinesia.

    Time frame: At the inclusion visit

Sponsors and collaborators

Lead sponsor

Assistance Publique - Hôpitaux de Paris

Other

Registry information

Official study title

Molecular Diagnosis of Primary Ciliary Dyskinesia

Acronym: DCP

Important dates

Study start
2010
Primary completion
2012
Study completion
2012
First posted
Nov 3, 2008
Registry last updated
Aug 7, 2013

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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