Primary Ciliary Dyskinesias: Identification of Specific Severity Criteria and Phenotype-genotype Correlation Study

Status: Recruiting
Location: See all (32) locations...
Study Type: Observational
SUMMARY

Primary Ciliary Dyskinesias (PCD) are rare, autosomal recessive respiratory diseases, due to a defect in mucociliary clearance linked to abnormalities in the structure and/or function of the cilia. The variety of ciliary abnormalities identified reflects the genetic heterogeneity of PCDs. The thirty or so genes currently implicated explain the pathology in about half of the patients. PCDs are characterized by recurrent infections of the upper (rhinosinusitis) and lower (bronchitis) airways, beginning in early childhood and progressing respectively to nasal polyposis and bronchial dilatation. In half of the cases, there is a lateralization defect of the organs (situs inversus) corresponding to Kartagener's syndrome. There is more frequent infertility in men (immobility of spermatozoa) than in women (miscarriages and tubal pregnancies). About a third of patients progress to respiratory failure. The identification of predictive factors of severity, specific to PCDs, would improve patient care. It is also important to assess the quality of life of patients with PCD, particularly at the ENT level. Data from prevalent patients are currently integrated into three separate and complementary databases: the e-RespiRare database, the DCP Cils database and the DCP genes database. The first step is therefore to constitute the RaDiCo-DCP database which will include data from prevalent and incident patients whose diagnosis of PCD is certain. The cohort aims to improve the routine care of PCD patients, in particular by highlighting predictive factors of severity, allowing early and personalized care, to assess the social impact (quality of life) and medical conditions of ENT impairment, as well as adult infertility, to finely characterize the ciliary phenotype. The study also aims to search for new DCP genes and to allow genotype/phenotype correlation studies.

Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: f
View:

• Patient fulfilling at least one of the following criteria for PCD confirmed diagnosis: Kartagener's syndrome and/or specific anomaly of the ciliary ultrastructure and/or an unambiguous mutation in a PCD gene

• Having at least one annual follow-up visit

Locations
Other Locations
France
Hôpital Jean Minjoz
NOT_YET_RECRUITING
Besançon
Hôpital Pellegrin-Enfants
NOT_YET_RECRUITING
Bordeaux
CHU de Caen
NOT_YET_RECRUITING
Caen
Hôpital Clémenceau
NOT_YET_RECRUITING
Caen
Centre Hospitalier Intercommunal de Créteil
NOT_YET_RECRUITING
Créteil
Centre Hospitalier Intercommunal de Créteil
RECRUITING
Créteil
Centre Hospitalier Intercommunal de Créteil
RECRUITING
Créteil
Hôpital Henri Mondor
RECRUITING
Créteil
Hôpital Le Bocage
NOT_YET_RECRUITING
Dijon
Hôpital Bicêtre
RECRUITING
Le Kremlin-bicêtre
Hôpital Jeanne de Flandre
RECRUITING
Lille
Hôpital Femme-Mère-Enfant
RECRUITING
Lyon
Hôpital Louis Pradel
RECRUITING
Lyon
Hôpital de la Timone
NOT_YET_RECRUITING
Marseille
Hôpital Nord
RECRUITING
Marseille
Hôpital Arnaud de Villeneuve
RECRUITING
Montpellier
Hôpital Arnaud de Villeneuve
NOT_YET_RECRUITING
Montpellier
Hôpital Lenval
NOT_YET_RECRUITING
Nice
Hôpital Armand Trousseau
RECRUITING
Paris
Hôpital Armand Trousseau
RECRUITING
Paris
Hôpital Bichat
RECRUITING
Paris
Hôpital Cochin
RECRUITING
Paris
Hôpital Necker-Enfants Malades
RECRUITING
Paris
Hôpital Robert Debré
NOT_YET_RECRUITING
Paris
Hôpital Tenon
RECRUITING
Paris
American Memorial Hospital
RECRUITING
Reims
Hôpital Charles Nicolle
NOT_YET_RECRUITING
Rouen
Hôpital Hautepierre
NOT_YET_RECRUITING
Strasbourg
Hospices Civils
RECRUITING
Strasbourg
Hôpital des Enfants
RECRUITING
Toulouse
Hôpital Larrey
NOT_YET_RECRUITING
Toulouse
Hôpital de Clocheville
NOT_YET_RECRUITING
Tours
Contact Information
Primary
Bernard MAITRE
bernard.maitre@chicreteil.fr
+33 1 57 02 20 82
Time Frame
Start Date: 2017-05-01
Estimated Completion Date: 2027-05-01
Participants
Target number of participants: 300
Sponsors
Leads: Institut National de la Santé Et de la Recherche Médicale, France

This content was sourced from clinicaltrials.gov