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Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT05951478
Other study ID # C15-74
Secondary ID
Status Recruiting
Phase
First received
Last updated
Start date May 2, 2017
Est. completion date December 31, 2028

Study information

Verified date July 2023
Source Institut National de la Santé Et de la Recherche Médicale, France
Contact Bernard MAITRE
Phone +33 1 57 02 20 82
Email bernard.maitre@chicreteil.fr
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial 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.


Recruitment information / eligibility

Status Recruiting
Enrollment 300
Est. completion date December 31, 2028
Est. primary completion date December 31, 2028
Accepts healthy volunteers No
Gender All
Age group N/A and older
Eligibility Inclusion Criteria: - 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 Non-inclusion Criteria: - Patients with an unconfirmed diagnosis of PCD - Patients with an evolving concomitant pathology that may interfere with the assessment of PCD-related manifestations

Study Design


Locations

Country Name City State
France Hôpital Jean Minjoz Besançon
France Hôpital Pellegrin-Enfants Bordeaux
France CHU de Caen Caen
France Hôpital Clémenceau Caen
France Centre Hospitalier Intercommunal de Créteil Créteil
France Centre Hospitalier Intercommunal de Créteil Créteil
France Centre Hospitalier Intercommunal de Créteil Créteil
France Hôpital Henri Mondor Créteil
France Hôpital Le Bocage Dijon
France Hôpital Bicêtre Le Kremlin-Bicêtre
France Hôpital Jeanne de Flandre Lille
France Hôpital Femme-Mère-Enfant Lyon
France Hôpital Louis Pradel Lyon
France Hôpital de la Timone Marseille
France Hôpital Nord Marseille
France Hôpital Arnaud de Villeneuve Montpellier
France Hôpital Arnaud de Villeneuve Montpellier
France Hôpital Lenval Nice
France Hôpital Armand Trousseau Paris
France Hôpital Armand Trousseau Paris
France Hôpital Bichat Paris
France Hôpital Cochin Paris
France Hôpital Necker-Enfants Malades Paris
France Hôpital Robert Debré Paris
France Hôpital Tenon Paris
France American Memorial Hospital Reims
France Hôpital Charles Nicolle Rouen
France Hôpital Hautepierre Strasbourg
France Hospices Civils Strasbourg
France Hôpital des Enfants Toulouse
France Hôpital Larrey Toulouse
France Hôpital de Clocheville Tours

Sponsors (1)

Lead Sponsor Collaborator
Institut National de la Santé Et de la Recherche Médicale, France

Country where clinical trial is conducted

France, 

Outcome

Type Measure Description Time frame Safety issue
Other Association studies between the different clinical phenotypic aspects, the ciliary phenotype and the genotype. Through study completion, an average of 5 years
Primary Comparison and description for severe and non-severe patients of the phenotypic characteristics of the disease in adult and pediatric patients. Through study completion, an average of 5 years
Secondary Validation of the involvement of new DCP genes Validation of the involvement of new DCP genes highlighted in the context of medical care will be done by association study in well-defined subgroups of patients. Through study completion, an average of 5 years
Secondary Impact of disease on quality of life will be evaluated through scores of quality of life questionnaires Best Cilia 6-12 years old Through study completion, an average of 5 years
Secondary Impact of disease on quality of life will be evaluated through scores of quality of life questionnaire Best Cilia 13-17 years old Through study completion, an average of 5 years
Secondary Impact of disease on quality of life will be evaluated through scores of quality of life questionnaire Best Cilia 18+ years old Through study completion, an average of 5 years
Secondary Impact of disease on quality of life will be evaluated through scores of quality of life questionnaire Sino-nasal outcome test-22 Through study completion, an average of 5 years
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