DCP (RaDiCo Cohort) (RaDiCo-DCP) (DCP)

February 10, 2026 updated by: Institut National de la Santé Et de la Recherche Médicale, France

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

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.

Study Overview

Status

Recruiting

Conditions

Study Type

Observational

Enrollment (Estimated)

300

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • France
      • Besançon, France
        • Not yet recruiting
        • Hopital Jean Minjoz
        • Contact:
          • Marie-Laure DALPHIN
      • Bordeaux, France
        • Not yet recruiting
        • Hôpital Pellegrin-Enfants
        • Contact:
          • Michael FAYON
      • Caen, France
        • Not yet recruiting
        • CHU de Caen
        • Contact:
          • Emmanuel BERGOT
      • Caen, France
        • Not yet recruiting
        • Hôpital Clémenceau
        • Contact:
          • Jacques BROUARD
      • Créteil, France
        • Recruiting
        • Hopital Henri Mondor
        • Contact:
          • Emilie BEQUIGNON
      • Créteil, France
        • Not yet recruiting
        • Centre Hospitalier Intercommunal de Créteil
        • Contact:
          • André COSTE
      • Créteil, France
        • Recruiting
        • Centre Hospitalier Intercommunal de Créteil
        • Contact:
          • Ralph EPAUD
      • Dijon, France
        • Not yet recruiting
        • Hôpital Le Bocage
        • Contact:
          • Anne HOUZEL
      • Le Kremlin-Bicêtre, France
        • Recruiting
        • Hopital Bicetre
        • Contact:
          • Jean-François PAPON
      • Lille, France
        • Recruiting
        • Hôpital Jeanne de Flandre
        • Contact:
          • Caroline THUMERELLE
      • Lyon, France
        • Recruiting
        • Hopital Louis Pradel
        • Contact:
          • Vincent COTTIN
      • Lyon, France
        • Recruiting
        • Hôpital Femme-Mère-Enfant
        • Contact:
          • Philippe Reix
      • Marseille, France
        • Recruiting
        • Hôpital Nord
        • Contact:
          • Martine REYNAUD-GAUBERT
      • Marseille, France
        • Not yet recruiting
        • Hôpital de la Timone
        • Contact:
          • Jean-Christophe Dubus
      • Montpellier, France
        • Recruiting
        • Hopital Arnaud de Villeneuve
        • Contact:
          • Marie-Catherine RENOUX
      • Montpellier, France
        • Not yet recruiting
        • Hopital Arnaud de Villeneuve
        • Contact:
          • Raphael CHIRON
      • Nice, France
        • Not yet recruiting
        • Hôpital Lenval
        • Contact:
          • Marc ALBERTINI
      • Paris, France
        • Recruiting
        • Hôpital Cochin
        • Contact:
          • Isabelle HONORE
      • Paris, France
        • Recruiting
        • Hôpital Necker-Enfants Malades
        • Contact:
          • Rola ABOU TAAM
      • Paris, France
        • Recruiting
        • Hopital Tenon
        • Contact:
          • Jacques Cadranel
      • Paris, France
        • Recruiting
        • Hôpital Armand Trousseau
        • Contact:
          • Guillaume THOUVENIN
      • Paris, France
        • Recruiting
        • Hôpital Bichat
        • Contact:
          • Camille TAILLE
      • Paris, France
        • Not yet recruiting
        • Hopital Robert Debre
        • Contact:
          • Véronique HONDOUIN
      • Reims, France
        • Recruiting
        • American Memorial Hospital
        • Contact:
          • Katia BESSACI
      • Rouen, France
        • Not yet recruiting
        • Hôpital Charles Nicolle
        • Contact:
          • Laure COUDERC
      • Strasbourg, France
        • Not yet recruiting
        • Hopital Hautepierre
        • Contact:
          • Laurence WEISS
      • Strasbourg, France
        • Recruiting
        • Hospices Civils
        • Contact:
          • Sandrine HIRSCHI
      • Toulouse, France
        • Not yet recruiting
        • Hopital Larrey
        • Contact:
          • Marlène MURRIS-ESPIN
      • Toulouse, France
        • Recruiting
        • Hopital des Enfants
        • Contact:
          • Léa RODITIS
      • Tours, France
        • Not yet recruiting
        • Hôpital de Clocheville
        • Contact:
          • Isabelle GIBERTINI

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

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.

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
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
Through study completion, an average of 5 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Validation of the involvement of new DCP genes
Time Frame: Through study completion, an average of 5 years
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
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
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
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
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
Through study completion, an average of 5 years

Other Outcome Measures

Outcome Measure
Time Frame
Association studies between the different clinical phenotypic aspects, the ciliary phenotype and the genotype.
Time Frame: Through study completion, an average of 5 years
Through study completion, an average of 5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Institut National de la Santé Et de la Recherche Médicale, France

Investigators

  • Principal Investigator: Bernard MAITRE, INSERM UMR 955

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

May 1, 2017

Primary Completion (Estimated)

May 1, 2027

Study Completion (Estimated)

May 1, 2027

Study Registration Dates

First Submitted

May 6, 2022

First Submitted That Met QC Criteria

July 18, 2023

First Posted (Actual)

July 19, 2023

Study Record Updates

Last Update Posted (Actual)

February 12, 2026

Last Update Submitted That Met QC Criteria

February 10, 2026

Last Verified

February 1, 2026

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • C15-74

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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