Primary Ciliary DyskinesiaDCPNCT05951478
DCP (RaDiCo Cohort) (RaDiCo-DCP)
An observational study of Primary Ciliary Dyskinesia, run by Institut National de la Santé Et de la Recherche Médicale, France at 32 sites in France.
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Primary Ciliary Dyskinesia
- How many people
- 300 participants
- Where
- 32 sitesFrance
- Study dates
- 1 May 2017to 1 May 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Study population includes children and adults with the confirmed diagnosis of PCD. The objective is to recruit 300 patients.
Who may be able to join
- 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
Who cannot join
None listed.
Trial locations and contacts
32 sites in 1 country. Contact the study team or a site near you to ask about taking part.
32 sites in 1 country
France32 sites, 32 recruiting
- Not yet recruiting
Hôpital Jean Minjoz
Besançon
Marie-Laure DALPHIN
- Not yet recruiting
Hôpital Pellegrin-Enfants
Bordeaux
Michael FAYON
- Not yet recruiting
CHU de Caen
Caen
Emmanuel BERGOT
- Not yet recruiting
Hôpital Clémenceau
Caen
Jacques BROUARD
- Recruiting
Centre Hospitalier Intercommunal de Créteil
Créteil
Bernard MAITRE
- Not yet recruiting
Centre Hospitalier Intercommunal de Créteil
Créteil
André COSTE
- Recruiting
Centre Hospitalier Intercommunal de Créteil
Créteil
Ralph EPAUD
- Recruiting
Hôpital Henri Mondor
Créteil
Emilie BEQUIGNON
- Not yet recruiting
Hôpital Le Bocage
Dijon
Anne HOUZEL
- Recruiting
Hôpital Bicêtre
Le Kremlin-Bicêtre
Jean-François PAPON
- Recruiting
Hôpital Jeanne de Flandre
Lille
Caroline THUMERELLE
- Recruiting
Hôpital Femme-Mère-Enfant
Lyon
Philippe REIX
- Recruiting
Hôpital Louis Pradel
Lyon
Vincent COTTIN
- Not yet recruiting
Hôpital de la Timone
Marseille
Jean-Christophe DUBUS
- Recruiting
Hôpital Nord
Marseille
Martine REYNAUD-GAUBERT
- Recruiting
Hôpital Arnaud de Villeneuve
Montpellier
Marie-Catherine RENOUX
- Not yet recruiting
Hôpital Arnaud de Villeneuve
Montpellier
Raphaël CHIRON
- Not yet recruiting
Hôpital Lenval
Nice
Marc ALBERTINI
- Recruiting
Hôpital Armand Trousseau
Paris
Marie LEGENDRE
- Recruiting
Hôpital Armand Trousseau
Paris
Guillaume THOUVENIN
- Recruiting
Hôpital Bichat
Paris
Camille TAILLE
- Recruiting
Hôpital Cochin
Paris
Isabelle HONORE
- Recruiting
Hôpital Necker-Enfants Malades
Paris
Rola ABOU TAAM
- Not yet recruiting
Hôpital Robert Debré
Paris
Véronique HONDOUIN
- Recruiting
Hôpital Tenon
Paris
Jacques CADRANEL
- Recruiting
American Memorial Hospital
Reims
Katia BESSACI
- Not yet recruiting
Hôpital Charles Nicolle
Rouen
Laure COUDERC
- Recruiting
Hospices Civils
Strasbourg
Sandrine HIRSCHI
- Not yet recruiting
Hôpital Hautepierre
Strasbourg
Laurence WEISS
- Recruiting
Hôpital des Enfants
Toulouse
Léa RODITIS
- Not yet recruiting
Hôpital Larrey
Toulouse
Marlène MURRIS-ESPIN
- Not yet recruiting
Hôpital de Clocheville
Tours
Isabelle GIBERTINI
About this study
Official title: 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.
- Conditions
- Primary Ciliary Dyskinesia
- Medical subject headings
- Ciliary Motility Disorders
What is being measured
The primary outcome is the main question the study is designed to answer.
Comparison and description for severe and non-severe patients of the phenotypic characteristics of the disease in adult and pediatric patients.
Measured: Through study completion, an average of 5 years
Secondary outcomes (5)
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.
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: Through study completion, an average of 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Jul 2023
- Study start1 May 2017
- Primary completion1 May 2027 (estimated)
- Study completion1 May 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Primary Ciliary DyskinesiaStudies of the same condition, open and under way.
- More trials run by Institut National de la Santé Et de la Recherche Médicale, FranceThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 300 participants (estimated)
Sponsor and investigators
- Sponsor type
- Other government
- Responsible party
- Sponsor
- Investigators
- Bernard MAITRE, Principal investigator, INSERM UMR 955
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05951478
- Sponsor's protocol ID
- C15-74
- Acronym
- DCP
- Status last verified
- Feb 2026
- First submitted
- 6 May 2022
- Last updated
- 12 Feb 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 12 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Primary Ciliary Dyskinesias: Identification of Specific Severity Criteria and Phenotype-genotype Correlation Study
- ClinicalTrials.gov ID
- NCT05951478
- Acronym / sponsor ID
- DCP / C15-74
- Conditions
- Primary Ciliary Dyskinesia
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 300 participants (estimated)
- Lead sponsor
- Institut National de la Santé Et de la Recherche Médicale, FranceOther government
- Study start
- 1 May 2017 (actual)
- Primary completion
- 1 May 2027 (estimated)
- Study completion
- 1 May 2027 (estimated)
- First posted
- 19 Jul 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Other
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Study population includes children and adults with the confirmed diagnosis of PCD. The objective is to recruit 300 patients.
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (0 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
5 secondary outcomes
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Feb 2026.
Related trials for Primary Ciliary Dyskinesia
RecruitingObservational study
Utility of PCD Diagnostics to Improve Clinical Care
Primary Ciliary Dyskinesia
RecruitingObservational study
Natural History of Bronchiectasis
Bronchiectasis, Cystic Fibrosis
Recruiting
Primary Ciliary Dyskinesia in Adult Bronchiectasis
Idiopathic Bronchiectasis
Not yet recruitingObservational study
Comparison of Individuals With Primary Ciliary Dyskinesia and Healthy Controls
Primary Ciliary Dyskinesia (PCD)
Not yet recruitingObservational study
Malnutrition and Sarcopenia Among Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia (PCD)
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Bernard MAITRE principal investigator
INSERM UMR 955
32 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Primary Ciliary Dyskinesia, run by Institut National de la Santé Et de la Recherche Médicale, France at 32 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 0 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 12 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 32 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Bernard MAITRE (+33 1 57 02 20 82, bernard.maitre@chicreteil.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 12 Feb 2026.