ITMO Santé Publique
ITMO Santé Publique
Date de modification : 26/01/2024 | Version : 1 | ID : 73379
| Général | |
| Identification | |
| Nom détaillé | Primary Ciliary Dyskinesia: Identification of specific severity criteria and phenotype-genotype correlation study |
| Sigle ou acronyme | RaDiCo-DCP |
| Numéro d'enregistrement (ID-RCB ou EUDRACT, CNIL, CPP, etc.) | CCTIRS n° 16.049Bis / CNIL Decision DR-2016-391 / CEEI n°15-259 bis |
| Thématiques générales | |
| Domaine médical |
Anatomy - Cytology Biology Otolaryngology or ENT Pediatrics Pneumology Rare diseases Urology, andrology and nephrology |
| Etude en lien avec la Covid-19 |
No |
| Pathologie, précisions | Primary Ciliary Dyskinesias (PCD) are respiratory diseases related to a constitutional abnormality of the cilia that affects the axonema, a structure common to cilia and flagella. PCDs provok upper and lower airway infections, secondary to alterations in muco-ciliary purification, which are classically manifested in childhood. These respiratory infections result in recurrent bronchopulmonary disease and rhinosinusitis, progressing to bronchial dilation and nasal polyposis, respectively. In half of the cases, there is a reverse rotation of the viscera (situs inversus), resulting in Kartagener's syndrome, defined by the triad of bronchiectasis, chronic sinusitis and situs inversus, which therefore constitutes a subgroup of PCDs. The first and most common ciliary abnormality, found in patients with PCD, corresponds to an absence of the outer dynein arms that carry the ATPase activity essential for ciliary movement. Many other ultrastructural abnormalities of the cilia were subsequently described in the context of PCDs. Most affected men are sterile due to immobility of the flagellum of the spermatozoa, which then present the same ultrastructural defect as that of the respiratory cilia. The incidence of PCDs in the general population is estimated to be 1/16000. The transmission of PCDs is classically autosomal recessive, with the frequency of affected individuals being much higher in populations where there is a high degree of inbreeding. |
| Déterminants de santé |
Genetic Healthcare system and access to health care services Occupation Social and psychosocial factors |
| Responsable(s) scientifique(s) | |
| Nom du responsable | MAITRE |
| Prénom | Bernard |
| Adresse |
Service de Pneumologie Centre hospitalier intercommunal de Créteil 40 avenue de Verdun 94000 Créteil FRANCE |
| Téléphone | +33 (0)1 57 02 20 82 |
| Laboratoire | Inserm U 955 |
| Organisme | French National Institute for Health and Medical Research (Inserm) |
| Collaborations | |
| Participation à des projets, des réseaux, des consortiums |
Yes |
| Précisions | Filière Maladies Rares pulmonaires RespiFil. / European Reference Network ERN-LUNG |
| Financements | |
| Financements |
Public |
| Précisions | Funded by the French « Investissements d’Avenir » cohorts programme, Grant « ANR » 10-COHO-0003. |
| Gouvernance de la base de données | |
| Organisation(s) responsable(s) ou promoteur | French National Institute for Health and Medical Research (Inserm) |
| Statut de l’organisation |
Secteur Public |
| Existence de comités scientifique ou de pilotage |
Yes |
| Labellisations et évaluations de la base de données | Security audit certification of the database. Data management and continuous quality control of data. |
| Contact(s) supplémentaire(s) | |
| Caractéristiques | |
| Type de base de données | |
| Type de base de données |
Morbidity registers |
| Origine du recrutement des participants |
A selection of health institutions and services |
| Le recrutement dans la base de données s'effectue dans le cadre d'une étude interventionnelle |
No |
| Informations complémentaires concernant la constitution de l'échantillon |
Depending on their symptomatology, the initial management of patients suspected of PCD is carried out in a paediatric, ENT, adult pneumology, paediatric pneumology, or reproductive biology department that undertakes etiological explorations, in particular ciliary investigations that make it possible to confirm the diagnosis of PCD.
The RaDiCo-DCP cohort will consist of 300 prevalent and incident patients, both paediatric and adult, who will be followed for 5 years after their inclusion in the study. |
| Objectif de la base de données | |
| Objectif principal | The main objective is to identify in a large cohort of PCD patients, early predictors of severity in order to improve personalized patient management. |
| Critères d'inclusion |
All prevalent patients and incidents included in the RaDiCo-DCP cohort must:
• Have a confirmed diagnosis of PCD based on at least one of the following diagnostic criteria: Kartagener syndrome (association of chronic sinusitis, bronchiectasis and situs inversus), and/or evidence of specific abnormalities of the ciliary ultrastructure, and/or identification of unambiguous mutations in a PCD gene. • Have at least one annual follow-up visit in accordance with standard practice. Patients who meet the following criteria will not be included: • Patient with an unconfirmed diagnosis of PCD; • Patient with a concomitant progressive pathology that may interfere with the evaluation of PCD-related manifestations. |
| Type de population | |
| Age |
Newborns (birth to 28 days) Infant (28 days to 2 years) Early childhood (2 to 5 years) Childhood (6 to 13 years) Adolescence (13 to 18 years) Adulthood (19 to 24 years) Adulthood (25 to 44 years) Adulthood (45 to 64 years) Elderly (65 to 79 years) Great age (80 years and more) |
| Population concernée |
Sick population |
| Pathologie | Q34 - Other congenital malformations of respiratory system |
| Sexe |
Male Woman |
| Champ géographique |
National |
| Détail du champ géographique | Complete coverage of the French territory by the Reference and Competence Centers for Rare Lung Diseases |
| Collecte | |
| Dates | |
| Année du premier recueil | 2017 |
| Année du dernier recueil | 2028 |
| Taille de la base de données | |
| Taille de la base de données (en nombre d'individus) |
< 500 individuals |
| Détail du nombre d'individus | 300 estimated |
| Données | |
| Activité de la base |
Current data collection |
| Type de données recueillies |
Clinical data Declarative data Paraclinical data Biological data |
| Données cliniques, précisions |
Direct physical measures Medical registration |
| Détail des données cliniques recueillies | Demographics; General, respiratory and ENT assessments; Fertility; Genetics; Therapeutic |
| Données déclaratives, précisions |
Paper self-questionnaire Internet self-questionnaire Face to face interview |
| Données paracliniques, précisions | Respiratory assessment (radiological and EFR); Paraclinical ENT assessment; NO assessment and ciliary explorations |
| Données biologiques, précisions | Bacteriological evaluation |
| Existence d’une biothèque |
No |
| Paramètres de santé étudiés |
Health event/morbidity Health event/mortality Quality of life/health perception |
| Qualité de vie/santé perçue, précisions | Cohort-developed, age-appropriate quality of life questionnaires and SNOT – 22 test reviewing 22 symptoms reflecting the pathological burden of patients with rhinological diseases. |
| Modalités | |
| Mode de recueil des données | eCRF in secure web access, secure cloud and HADS hosting |
| Nomenclatures employées | HPO, ICD10, Snomed CT, Orpha Codes and ORDO, Drug dictionary (DCIs) |
| Procédures qualité utilisées | Data Management Plan and Data Validation Plan. Continuous data management (automatic control rules and query system) |
| Suivi des participants |
Yes |
| Modalités de suivi des participants |
Monitoring by convocation of the participant Monitoring by contact with the referring doctor Monitoring by crossing with a morbidity register |
| Pathologie suivies | Q34 - Other congenital malformations of respiratory system |
| Appariement avec des sources administratives |
No |
| Valorisation et accès | |
| Valorisation et accès | |
| Accès | |
| Existence d’un document qui répertorie les variables et les modalités de codage |
Yes |
| Charte d'accès aux données (convention de mise à disposition, format de données et délais de mise à disposition) | Requests for access to RaDiCo-DCP data (aggregated or individual) will be considered by the Scientific Committee following the submission of a summary of a specific research project, as defined in the Charter of access to resources. Requests should be sent to: dcp@radico.fr |
| Accès aux données agrégées |
Access on specific project only |
| Accès aux données individuelles |
Access on specific project only |
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