ITMO public health
Last update : 01/26/2024 | Version : 1 | ID : 73379
| General | |
| Identification | |
| Detailed name | Primary Ciliary Dyskinesia: Identification of specific severity criteria and phenotype-genotype correlation study |
| Sign or acronym | RaDiCo-DCP |
| CNIL registration number, number and date of CPP agreement, AFSSAPS (French Health Products Safety Agency) authorisation | CCTIRS n° 16.049Bis / CNIL Decision DR-2016-391 / CEEI n°15-259 bis |
| General Aspects | |
| Medical area |
Anatomy - Cytology Biology Otolaryngology or ENT Pediatrics Pneumology Rare diseases Urology, andrology and nephrology |
| Study in connection with Covid-19 |
No |
| Pathology (details) | 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. |
| Health determinants |
Genetic Healthcare system and access to health care services Occupation Social and psychosocial factors |
| Scientific investigator(s) (Contact) | |
| Name of the director | MAITRE |
| Surname | Bernard |
| Address |
Service de Pneumologie Centre hospitalier intercommunal de Créteil 40 avenue de Verdun 94000 Créteil FRANCE |
| Phone | +33 (0)1 57 02 20 82 |
| Unit | Inserm U 955 |
| Organization | French National Institute for Health and Medical Research (Inserm) |
| Collaborations | |
| Participation in projects, networks and consortia |
Yes |
| Details | Filière Maladies Rares pulmonaires RespiFil. / European Reference Network ERN-LUNG |
| Funding | |
| Funding status |
Public |
| Details | Funded by the French « Investissements d’Avenir » cohorts programme, Grant « ANR » 10-COHO-0003. |
| Governance of the database | |
| Sponsor(s) or organisation(s) responsible | French National Institute for Health and Medical Research (Inserm) |
| Organisation status |
Public |
| Presence of scientific or steering committees |
Yes |
| Labelling and database evaluation | Security audit certification of the database. Data management and continuous quality control of data. |
| Additional contact | |
| Main features | |
| Type of database | |
| Type of database |
Morbidity registers |
| Database recruitment is carried out by an intermediary |
A selection of health institutions and services |
| Database recruitment is carried out as part of an interventional study |
No |
| Additional information regarding sample selection. |
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. |
| Database objective | |
| Main objective | The main objective is to identify in a large cohort of PCD patients, early predictors of severity in order to improve personalized patient management. |
| Inclusion criteria |
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. |
| Population type | |
| 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 covered |
Sick population |
| Pathology | Q34 - Other congenital malformations of respiratory system |
| Gender |
Male Woman |
| Geography area |
National |
| Detail of the geography area | Complete coverage of the French territory by the Reference and Competence Centers for Rare Lung Diseases |
| Data collection | |
| Dates | |
| Date of first collection (YYYY or MM/YYYY) | 2017 |
| Date of last collection (YYYY or MM/YYYY) | 2028 |
| Size of the database | |
| Size of the database (number of individuals) |
< 500 individuals |
| Details of the number of individuals | 300 estimated |
| Data | |
| Database activity |
Current data collection |
| Type of data collected |
Clinical data Declarative data Paraclinical data Biological data |
| Clinical data (detail) |
Direct physical measures Medical registration |
| Details of collected clinical data | Demographics; General, respiratory and ENT assessments; Fertility; Genetics; Therapeutic |
| Declarative data (detail) |
Paper self-questionnaire Internet self-questionnaire Face to face interview |
| Paraclinical data (detail) | Respiratory assessment (radiological and EFR); Paraclinical ENT assessment; NO assessment and ciliary explorations |
| Biological data (detail) | Bacteriological evaluation |
| Presence of a biobank |
No |
| Health parameters studied |
Health event/morbidity Health event/mortality Quality of life/health perception |
| Quality of life/perceived health (detail) | Cohort-developed, age-appropriate quality of life questionnaires and SNOT – 22 test reviewing 22 symptoms reflecting the pathological burden of patients with rhinological diseases. |
| Procedures | |
| Data collection method | eCRF in secure web access, secure cloud and HADS hosting |
| Classifications used | HPO, ICD10, Snomed CT, Orpha Codes and ORDO, Drug dictionary (DCIs) |
| Quality procedure(s) used | Data Management Plan and Data Validation Plan. Continuous data management (automatic control rules and query system) |
| Participant monitoring |
Yes |
| Monitoring procedures |
Monitoring by convocation of the participant Monitoring by contact with the referring doctor Monitoring by crossing with a morbidity register |
| Followed pathology | Q34 - Other congenital malformations of respiratory system |
| Links to administrative sources |
No |
| Promotion and access | |
| Promotion | |
| Access | |
| Presence of document that lists variables and coding procedures |
Yes |
| Terms of data access (charter for data provision, format of data, availability delay) | 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 |
| Access to aggregated data |
Access on specific project only |
| Access to individual data |
Access on specific project only |
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