NCT05951478

Brief 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.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
300

participants targeted

Target at P75+ for all trials

Timeline
12mo left

Started May 2017

Longer than P75 for all trials

Geographic Reach
1 country

32 active sites

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress90%
May 2017May 2027

Study Start

First participant enrolled

May 1, 2017

Completed
5 years until next milestone

First Submitted

Initial submission to the registry

May 6, 2022

Completed
1.2 years until next milestone

First Posted

Study publicly available on registry

July 19, 2023

Completed
3.8 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

May 1, 2027

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

May 1, 2027

Last Updated

February 12, 2026

Status Verified

February 1, 2026

Enrollment Period

10 years

First QC Date

May 6, 2022

Last Update Submit

February 10, 2026

Conditions

Primary Ciliary Dyskinesia

Outcome Measures

Primary Outcomes (1)

  • 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 Outcomes (5)

  • Validation of the involvement of new DCP genes

    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

    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

    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

    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

    Through study completion, an average of 5 years

Other Outcomes (1)

  • Association studies between the different clinical phenotypic aspects, the ciliary phenotype and the genotype.

    Through study completion, an average of 5 years

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Study population includes children and adults with the confirmed diagnosis of PCD. The objective is to recruit 300 patients.

You may qualify if:

  • 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
  • Patients with an unconfirmed diagnosis of PCD
  • Patients with an evolving concomitant pathology that may interfere with the assessment of PCD-related manifestations

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (32)

Hôpital Jean Minjoz

Besançon, France

NOT YET RECRUITING

Hôpital Pellegrin-Enfants

Bordeaux, France

NOT YET RECRUITING

CHU de Caen

Caen, France

NOT YET RECRUITING

Hôpital Clémenceau

Caen, France

NOT YET RECRUITING

Centre Hospitalier Intercommunal de Créteil

Créteil, France

RECRUITING

Centre Hospitalier Intercommunal de Créteil

Créteil, France

NOT YET RECRUITING

Centre Hospitalier Intercommunal de Créteil

Créteil, France

RECRUITING

Hôpital Henri Mondor

Créteil, France

RECRUITING

Hôpital Le Bocage

Dijon, France

NOT YET RECRUITING

Hôpital Bicêtre

Le Kremlin-Bicêtre, France

RECRUITING

Hôpital Jeanne de Flandre

Lille, France

RECRUITING

Hôpital Femme-Mère-Enfant

Lyon, France

RECRUITING

Hôpital Louis Pradel

Lyon, France

RECRUITING

Hôpital de la Timone

Marseille, France

NOT YET RECRUITING

Hôpital Nord

Marseille, France

RECRUITING

Hôpital Arnaud de Villeneuve

Montpellier, France

RECRUITING

Hôpital Arnaud de Villeneuve

Montpellier, France

NOT YET RECRUITING

Hôpital Lenval

Nice, France

NOT YET RECRUITING

Hôpital Armand Trousseau

Paris, France

RECRUITING

Hôpital Armand Trousseau

Paris, France

RECRUITING

Hôpital Bichat

Paris, France

RECRUITING

Hôpital Cochin

Paris, France

RECRUITING

Hôpital Necker-Enfants Malades

Paris, France

RECRUITING

Hôpital Robert Debré

Paris, France

NOT YET RECRUITING

Hôpital Tenon

Paris, France

RECRUITING

American Memorial Hospital

Reims, France

RECRUITING

Hôpital Charles Nicolle

Rouen, France

NOT YET RECRUITING

Hospices Civils

Strasbourg, France

RECRUITING

Hôpital Hautepierre

Strasbourg, France

NOT YET RECRUITING

Hôpital des Enfants

Toulouse, France

RECRUITING

Hôpital Larrey

Toulouse, France

NOT YET RECRUITING

Hôpital de Clocheville

Tours, France

NOT YET RECRUITING

MeSH Terms

Conditions

Ciliary Motility Disorders

Condition Hierarchy (Ancestors)

Respiratory Tract DiseasesOtorhinolaryngologic DiseasesCiliopathiesAbnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesGenetic Diseases, Inborn

Study Officials

  • Bernard MAITRE

    INSERM UMR 955

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Bernard MAITRE

CONTACT

+33 1 57 02 20 82bernard.maitre@chicreteil.fr

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
OTHER
Sponsor Type
OTHER GOV
Responsible Party
SPONSOR

Study Record Dates

First Submitted

May 6, 2022

First Posted

July 19, 2023

Study Start

May 1, 2017

Primary Completion (Estimated)

May 1, 2027

Study Completion (Estimated)

May 1, 2027

Last Updated

February 12, 2026

Record last verified: 2026-02

Locations

FR(32)