DCP (RaDiCo Cohort) (RaDiCo-DCP)

Primary Ciliary Dyskinesia Clinical Trial

— DCP  

Official title:

Primary Ciliary Dyskinesias: Identification of Specific Severity Criteria and Phenotype-genotype Correlation Study

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05951478
• Other study ID #: C15-74
• Status: Recruiting
• 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
• 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

Related Conditions & MeSH terms

• Ciliary Motility Disorders
• Dyskinesias
• Primary Ciliary Dyskinesia

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