Clinical trial NCT05951478: DCP (RaDiCo Cohort) (RaDiCo-DCP)
Official title: Primary Ciliary Dyskinesias: Identification of Specific Severity Criteria and Phenotype-genotype Correlation Study
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Primary Ciliary Dyskinesia
Lead sponsor: Institut National de la Santé Et de la Recherche Médicale, France
Sponsor class: OTHER_GOV
First posted: 2023-07-19
Enrollment: 300
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Study population includes children and adults with the confirmed diagnosis of PCD. The objective is to recruit 300 patients.

Brief 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 criteria: 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

Primary outcomes:
measure: Comparison and description for severe and non-severe patients of the phenotypic characteristics of the disease in adult and pediatric patients.
timeFrame: Through study completion, an average of 5 years
Secondary outcomes:
measure: Validation of the involvement of new DCP genes
timeFrame: Through study completion, an average of 5 years
measure: Impact of disease on quality of life will be evaluated through scores of quality of life questionnaires Best Cilia 6-12 years old
timeFrame: Through study completion, an average of 5 years
measure: Impact of disease on quality of life will be evaluated through scores of quality of life questionnaire Best Cilia 13-17 years old
timeFrame: Through study completion, an average of 5 years
measure: Impact of disease on quality of life will be evaluated through scores of quality of life questionnaire Best Cilia 18+ years old
timeFrame: Through study completion, an average of 5 years
measure: Impact of disease on quality of life will be evaluated through scores of quality of life questionnaire Sino-nasal outcome test-22
timeFrame: Through study completion, an average of 5 years
Other outcomes:
measure: Association studies between the different clinical phenotypic aspects, the ciliary phenotype and the genotype.
timeFrame: Through study completion, an average of 5 years
Locations:
city: Besançon
country: France
facility: Hôpital Jean Minjoz
city: Bordeaux
country: France
facility: Hôpital Pellegrin-Enfants
city: Caen
country: France
facility: CHU de Caen
city: Caen
country: France
facility: Hôpital Clémenceau
city: Créteil
country: France
facility: Centre Hospitalier Intercommunal de Créteil
city: Créteil
country: France
facility: Centre Hospitalier Intercommunal de Créteil
city: Créteil
country: France
facility: Centre Hospitalier Intercommunal de Créteil
city: Créteil
country: France
facility: Hôpital Henri Mondor
city: Dijon
country: France
facility: Hôpital Le Bocage
city: Le Kremlin-Bicêtre
country: France
facility: Hôpital Bicêtre
city: Lille
country: France
facility: Hôpital Jeanne de Flandre
city: Lyon
country: France
facility: Hôpital Femme-Mère-Enfant
city: Lyon
country: France
facility: Hôpital Louis Pradel
city: Marseille
country: France
facility: Hôpital de la Timone
city: Marseille
country: France
facility: Hôpital Nord
city: Montpellier
country: France
facility: Hôpital Arnaud de Villeneuve
city: Montpellier
country: France
facility: Hôpital Arnaud de Villeneuve
city: Nice
country: France
facility: Hôpital Lenval
city: Paris
country: France
facility: Hôpital Armand Trousseau
city: Paris
country: France
facility: Hôpital Armand Trousseau
city: Paris
country: France
facility: Hôpital Bichat
city: Paris
country: France
facility: Hôpital Cochin
city: Paris
country: France
facility: Hôpital Necker-Enfants Malades
city: Paris
country: France
facility: Hôpital Robert Debré
city: Paris
country: France
facility: Hôpital Tenon
city: Reims
country: France
facility: American Memorial Hospital
city: Rouen
country: France
facility: Hôpital Charles Nicolle
city: Strasbourg
country: France
facility: Hospices Civils
city: Strasbourg
country: France
facility: Hôpital Hautepierre
city: Toulouse
country: France
facility: Hôpital des Enfants
city: Toulouse
country: France
facility: Hôpital Larrey
city: Tours
country: France
facility: Hôpital de Clocheville
Study officials:
affiliation: INSERM UMR 955
name: Bernard MAITRE
role: PRINCIPAL_INVESTIGATOR
References: