Primary Ciliary Dyskinesia

Understanding mechanisms of mucus clearance from the airways may lead to treatments in muco-obstructive lung conditions. Mucociliary clearance (MCC) scans are a way to measure the rate at which a person's lungs can clear inhaled particles. Through a single-arm pilot study in participants with primary ciliary dyskinesia (PCD), the investigators will evaluate the effect of exercise as a way to increase clearance through a mechanism called gas liquid transport (GLT) where the faster flow of air through the lungs during exercise is able to clear more particles. The investigators will repeat MCC measures with exercise after administering hypertonic saline (HS) to evaluate the effects of mucus hydration on both GLT and cough clearance (CC). Aim 1. To quantify non-ciliary, non-cough mechanisms of mucus clearance (i.e., GLT) in PCD through an MCC protocol that introduces a standardized exercise intervention after isotope delivery. Aim 2. To evaluate whether exercise-induced GLT and/or CC are responsive to hydrator intervention, using a short acting bronchodilator with 7% HS prior to isotope delivery followed by MCC with exercise intervention.

Chronic inflammatory pulmonary diseases, including asthma, chronic obstructive pulmonary disease (COPD), bronchiectasis, cystic fibrosis (CF), primary ciliary dyskinesia (PCD) and interstitial lung diseases (ILD) are characterised by lung inflammation and remodelling. Clinical, functional, microbiological, biological, pathological and prognostic features are highly variable and heterogeneous. Several phenotypes have been described within the same pathology, as similar phenotypic traits between different pathologies, or the coexistence of components of several diagnoses in the same patient, suggesting shared underlying mechanisms that could represent new therapeutic targets, beyond the initial medical diagnosis. The objectives of this prospective study are to analyze the phenotypic characteristics (clinical, demographic, biological, morphological, pathological, and microbiological characteristics) together with respiratory exposures and underlying mechanisms involving airway epithelium and inflammation processes in a cohort of patients diagnosed with asthma, COPD, bronchiectasis, CF, PCD and ILD.

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.

The purpose of this study is to look at children with PCD and see if they have another condition called "bronchial hyperresponsiveness".

Living with PCD (formerly COVID-PCD) is a participatory research project that aims to answer emerging questions about primary ciliary dyskinesia (PCD) in order to improve the health and quality of life of people with PCD. Persons with confirmed or suspected PCD from anywhere in the world can participate. The study is advertised through patient support groups and participants register online after they read detailed information about the study. Participants receive a detailed questionnaire when they start the study and a follow-up questionnaire (planned once per year). Occasionally, participants receive extra questionnaires focused on special topics. The study is hosted at the University of Bern and recruitment started on May 30th, 2020.

The Ear-Nose-Throat (ENT) Prospective International Cohort of patients with Primary Ciliary Dyskinesia (EPIC-PCD) is a prospective observational clinical cohort study, set up as a multinational multi-centre study. It is embedded into routine patient care of participating reference centres for PCD and patients keep being managed according to local procedures and guidelines.

The Swiss Primary Ciliary Dyskinesia (PCD) Registry is a national patient registry that collects information on diagnosis, symptoms, treatment and follow-up of patients with PCD in Switzerland and provides data for national and international monitoring and research.

* Patients with primary ciliary dyskinesia (PCD) have trouble with clearing their bronchi from mucus, which in the long-term may produce severe damage to the lungs. Currently, there is no specific treatment for PCD beyond supportive measures such as airway hydration and postural drainage. * Glycine is an amino acid with anti-inflammatory properties that proved to be beneficial in another disease with problematic airway clearance, cystic fibrosis. * Magnesium participates in many crucial chemical reactions, including some that might favor fluidification and mobilization of mucus. Thiamine (vitamin B1) co-participates with magnesium in some mitochondrial enzymatic reactions occurring in the citric acid cycle. * Thus, oral supplements of glycine and magnesium+thiamine might improve symptoms and lung function of patients with PCD, and these effects may even be better if these supplements are combined. * In this study, in addition to their usual care, patients with PCD will receive for 6 months one of the following treatments: 1) an oral supplement of 0.5 g/kg/day glycine, 2) an oral supplement of up to 400 mg/day elementary magnesium plus up to 10 mg/day thiamine, according to the subject's age, 3) glycine plus magnesium+thiamine supplements, as described, or 4) a placebo, which is an inert substance. All treatments will be administered as a whitish powder contained in similar bottles. * The investigators will evaluate whether glycine and/or magnesium+thiamine reduce exacerbations of the disease, improve pulmonary function and quality of life, and reduce some pro-inflammatory compounds measured in saliva.

This cross-sectional and longitudinal observational study is to gather data on the utility of tests that are used to make a diagnosis of primary ciliary dyskinesia (PCD). There is new testing available, called nasal nitric oxide testing, that non-invasively measures nitric oxide levels in the sinus cavity. Individuals with PCD characteristically have low levels, but this testing does not have extensive data from everyday clinical practice. The objective of this proposal is to improve the diagnostic approach to children and adults with clinical concerns for primary ciliary dyskinesia (PCD).

This is a study evaluating the utility of current Primary Ciliary Dyskinesia (PCD) diagnostic tests, including nasal nitric oxide testing.

The goal of this clinical trial is to evaluate whether a 3-week thermal spa treatment can improve quality of life and reduce ENT (ear, nose, and throat) symptoms in adults with Primary Ciliary Dyskinesia (PCD). PCD is a rare, chronic condition that affects the airways and often leads to persistent sinus, ear, and lung infections. The main questions the study aims to answer are: Does spa therapy improve ENT-related symptoms and daily quality of life? Does it help reduce the frequency of infections and the need for antibiotics? Are there improvements in hearing and lung function? In this study, participants will be randomly assigned to one of two groups: Group A will begin with a 3-week spa treatment, followed by regular checkups for 6 months. Group B will start with standard care for 6 months, then receive the spa treatment and follow-up evaluations for another 6 months. All participants will: Undergo ENT and lung function evaluations (questionnaires, hearing tests, nasal swabs, spirometry) Visit one of two spa centers for a 3-week treatment period (without hospital stay) Be followed regularly over several months for checkups and tests Researchers will compare participants' symptoms and test results before and after the spa treatment to determine its benefits. Potential benefits: Participants may experience relief from nasal symptoms, fewer respiratory infections, improved hearing and breathing, and an overall better quality of life. Potential risks: There is a small risk of infection from a new germ or a mild, short-term flare-up of chronic symptoms (called a "thermal reaction") that can occur during spa therapy.

this study is aiming at learning more about primary ciliary dyskinesia (PCD) and tests that are used to diagnose this condition. One purpose of this study is to measure the level of nitric oxide in the nasal passages and examine how often the results correlate with other tests currently done to make the diagnosis.

Primary ciliary dyskinesia (PCD) is a rare disease, caused by impairment of the motile cilia. Patients present with chronic upper and lower respiratory tract infections. The therapy is mainly supportive and based on that of cystic fibrosis. Chest physiotherapy is one of the cornerstones of the therapy, however the influence of chest physiotherapy on lung function (short term and long term) is not clear. For interpretation of longitudinal lung function data it is important to examine the short time effect of chest physiotherapy. We hypothesize that a session of chest physiotherapy improves lung function and that thus lung function tests must be performed in a standardized way.

This study is a multicenter, prospective cohort study of patients diagnosed with primary ciliary dyskinesia, the clinical information of recruited patients, including clinical manifestations, lung function, chest imaging, quality of life and other indicators, will be followed for 10 years.