Study details

Primary Ciliary Dyskinesia: Identification of specific severity criteria and phenotype-genotype correlation study

RaDiCo-DCP

Ongoing study

The cohort aims to identify the factors that make it possible to detect, at an early stage, patients likely to develop a more severe form of primary ciliary dyskinesia (PCD). A better understanding of these factors will make it possible to better anticipate the course of the disease and to offer more personalized follow-up and treatment from the earliest stages. The cohort also aims to identify new genes involved in PCD, in order to improve genetic diagnosis and to expand knowledge of the mechanisms of the disease.

The study also investigates the consequences of PCD on patients' quality of life, in particular ENT involvement (nose, sinuses and ears), which may lead to recurrent infections, hearing impairment, language delay in children or chronic sinusitis in adults, as well as fertility difficulties that may require medically assisted reproduction, particularly in men. Finally, it seeks to better understand the links between symptoms, ciliary abnormalities and genetic characteristics, in order to explain why the disease manifests differently from one person to another and to contribute to the development of more personalized medicine.

RaDiCo-DCP is a French national cohort dedicated to primary ciliary dyskinesia (PCD), a rare respiratory disease of autosomal recessive genetic origin. It results from structural or functional abnormalities of the cilia, tiny structures found in particular in the respiratory tract, which normally clear mucus. This dysfunction causes recurrent infections of the upper and lower airways from early childhood, which may progress to nasal polyposis, bronchiectasis and, in about one third of patients, respiratory failure. Half of cases are accompanied by a laterality defect of the organs (Kartagener syndrome), and infertility is more frequently observed, particularly in men. Around thirty genes have been identified to date, accounting for approximately half of cases. The severity of the disease varies greatly from person to person and its causes are still incompletely understood.

The main objective of this cohort study is to better understand the factors that influence the progression of PCD in order to identify, as early as possible, patients who are at risk of developing a more severe form of the disease. This knowledge will help improve medical follow-up and enable more personalized care. The study also aims to identify new genes involved in PCD, to better understand the links between genetic characteristics, cilia abnormalities, and disease manifestations, and to assess the impact of PCD on patients' quality of life, particularly with regard to ENT complications and fertility issues.

The cohort includes children and adults with confirmed PCD from several hospitals in France. Participants are monitored regularly as part of their routine care. Researchers collect medical data, test results, information on quality of life, and, when available, data from genetic analyses and biological collections. The data are pseudonymized and analyzed securely to ensure participants' confidentiality.

By compiling this information over several years, the RaDiCo-DCP cohort helps improve our understanding of this rare disease, optimize patient care, and promote the development of more personalized medicine.

Rare Diseases Primary ciliary dyskinesia DCP Pulmonology Genetics Quality of Life Cohort

General medicine Infectious disease medicine Medical genetics Otolaryngology Paediatrics Public, environmental and occupational health Pulmonary medicine Surgery

Primary ciliary dyskinesia

Socio-demographic and economic determinants Socio-demographic and economic determinants: Age Environmental determinants Environmental determinants: Other Behavioral determinants Behavioral determinants: Addiction Biological determinants Biological determinants: Genetic predisposition Biological determinants: Sex

Place of Residence

Yes

France

Oui

Comité de Pilotage :
Bernard MAITRE, Marie LEGENDRE, Aline TAMALET, Guillaume THOUVENIN, Nicole BEYDON, Katia BESSACI, Isabelle HONORE, Rola ABOU TAAM, Muriel LEBOURGEOIS, Caroline THUMERELLE, Jean-François PAPON, Equipe Projet RaDiCo + DSO

Comité Scientifique :
Bernard MAITRE, Marie LEGENDRE, Aline TAMALET, Guillaume THOUVENIN, Nicole BEYDON, Harriet CORVOL, Marc KOSKAS, Katia BESSACI, Isabelle HONORE, Bruno CRESTANI, Rola ABOU TAAM, Muriel LEBOURGEOIS, Caroline THUMERELLE, Jean-Christophe DUBUS, Jean-François PAPON, Philippe REIX, Katel BERG, Natalie BOURDON, Bruno LOUIS, Equipe Projet RaDiCo + DSO

Oui

Filière Maladies Rares pulmonaires RespiFil / European Reference Network ERN-LUNG

Individus

Etude observationnelle

Cohorte

Autre

Non

Evénements de santé/morbidité
Evénements de santé/mortalité
Qualité de vie/santé perçue