DCP (RaDiCo Cohort) (RaDiCo-DCP)
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Primary Ciliary Dyskinesia. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Primary Ciliary Dyskinesias: Identification of Specific Severity Criteria and Phenotype-genotype Correlation Study
Overview
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.
Primary outcome measures
- Comparison and description for severe and non-severe patients of the phenotypic characteristics of the disease in adult and pediatric patients. [Time frame: Through study completion, an average of 5 years]
Secondary outcome measures (5)
- Validation of the involvement of new DCP genes [Time frame: Through study completion, an average of 5 years]
- Impact of disease on quality of life will be evaluated through scores of quality of life questionnaires Best Cilia 6-12 years old [Time frame: Through study completion, an average of 5 years]
- Impact of disease on quality of life will be evaluated through scores of quality of life questionnaire Best Cilia 13-17 years old [Time frame: Through study completion, an average of 5 years]
- Impact of disease on quality of life will be evaluated through scores of quality of life questionnaire Best Cilia 18+ years old [Time frame: Through study completion, an average of 5 years]
- Impact of disease on quality of life will be evaluated through scores of quality of life questionnaire Sino-nasal outcome test-22 [Time frame: Through study completion, an average of 5 years]
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
France · 32 centers
- Hôpital Jean Minjoz — Besançon
- Hôpital Pellegrin-Enfants — Bordeaux
- CHU de Caen — Caen
- Hôpital Clémenceau — Caen
- Centre Hospitalier Intercommunal de Créteil — Créteil
- Centre Hospitalier Intercommunal de Créteil — Créteil
- Centre Hospitalier Intercommunal de Créteil — Créteil
- Hôpital Henri Mondor — Créteil
- … and 24 more centers
Identifiers
NCT: NCT05951478 · C15-74