Primary Ciliary Dyskinesia

This research focuses on chronic inflammatory lung diseases such as asthma, chronic obstructive pulmonary disease (COPD), bronchiectasis, cystic fibrosis (CF), primary ciliary dyskinesia (PCD), and interstitial lung diseases (ILD). These conditions involve inflammation and changes in lung structure with a wide range of symptoms and features. The study aims to analyze various characteristics including clinical, biological, and microbiological traits, as well as respiratory exposures and mechanisms related to airway inflammation, to better understand these diseases beyond their initial diagnosis. The study is a prospective cohort conducted at the University Hospital of Reims, France, including adults aged 18 and older diagnosed with the listed respiratory diseases or healthy volunteers as controls. Participants will be followed over a 10-year period with data collected at inclusion and follow-up visits, while controls will only provide data at inclusion. No specific treatments are given as part of the study; care continues as usual. Throughout the study, information such as demographics, disease history, lung function tests, CT scans, and respiratory sample analyses will be collected and stored in an anonymous database. Researchers will use statistical and machine learning methods to identify patient groups with similar disease patterns and predict disease progression and treatment responses. The study is planned to start in September 2025 with a recruitment period lasting five years and follow-up for a decade thereafter.

Researchers are evaluating the use of smartphone speakers and microphones to assess airway size, detect airway obstruction, assist in diagnosing airway diseases, and identify disease flare-ups. This study focuses on chronic respiratory diseases such as asthma, COPD, cystic fibrosis, and other airway conditions. The goal is to improve remote monitoring of lung disease using smartphone-based sensing combined with machine learning techniques, aiming for more accurate, reliable, and adaptable pulmonary telemedicine. Participants will undergo a diagnostic test called AWARE, which uses smartphone technology to estimate lung function and support disease diagnosis. The study includes groups with asthma, COPD, cystic fibrosis, other airway diseases, and healthy controls. Participants will complete questionnaires, body measurements, and three types of pulmonary function tests: spirometry, oscillometry, and AWARE. Some will perform AWARE at home for up to two weeks, and a subgroup will test with study smartphones and their own devices to assess repeatability across different platforms. During the study, participants will be assessed through lung function tests, questionnaires, and body composition measurements. Researchers will monitor outcomes such as accurate disease diagnosis, estimation of lung function indices, and detection of airway changes during exacerbations. The study measures will be collected over up to two weeks per participant. This involves supervised and unsupervised testing both in clinics and at home, allowing comprehensive evaluation of the AWARE approach's reliability and clinical utility.

Primary ciliary dyskinesia (PCD) is a rare genetic condition that causes problems with the tiny hair-like structures called motile cilia, leading to chronic infections in the upper and lower respiratory tracts. This study is evaluating how chest physiotherapy affects lung function in patients with PCD. The goal is to understand if a session of chest physiotherapy improves lung function and how lung function tests should be standardized when used over time in these patients. Participants receive a 20-minute session of chest physiotherapy performed by a physiotherapist using airway clearance techniques and a positive expiratory pressure (PEP) device. This procedure is designed to help clear mucus from the lungs. The study focuses on measuring lung function before and after this treatment to observe any short-term changes. During the study, participants will undergo lung function tests including spirometry and Multiple Breath Washout (MBW) both before and 30 minutes after chest physiotherapy. Researchers will compare values such as forced expiratory volume in one second (FEV1) and lung clearance index (LCI) to assess changes. The study helps understand the immediate effects of chest physiotherapy on lung function in PCD and its implications for long-term monitoring. The total duration and follow-up details are aligned with these short-term assessments.

Primary Ciliary Dyskinesias (PCD) are rare inherited respiratory diseases caused by defects in the structure or function of cilia, leading to problems with clearing mucus from the airways. This condition results in repeated infections in both the upper and lower respiratory tracts, starting in early childhood and potentially causing complications like nasal polyps and bronchial dilation. Half of the patients have a condition called Kartagener's syndrome with organ lateralization defects, and many experience fertility issues. The study aims to improve patient care by identifying factors that predict disease severity and by assessing quality of life and medical conditions related to ENT problems and infertility. It also seeks to identify new genes involved in PCD and explore the relationship between genes and symptoms.

This research aims to evaluate whether virtual reality (VR) can reduce anxiety, pain, and the duration of bronchial fibroscopy (BF), a common invasive procedure performed in critical care patients under local anesthesia. BF can cause discomfort and anxiety despite local anesthesia, and current drug treatments are given only when needed. VR, combining hypnosis, music therapy, and other techniques, is being studied as a non-drug way to improve patient comfort during BF in critical care settings. The study compares two groups: one undergoing BF with immersion in a VR scenario using a HEALTHY MIND4 brand VR headset, and the other undergoing BF with local anesthesia alone. The VR headset offers immersive natural environments with hypnotic speech and music therapy, aiming to reduce patient stress. The procedure is performed while the patient is conscious and spontaneously breathing, with the VR intervention applied during the fibroscopy. Participants will be monitored for their anxiety and pain levels using visual analogue scales and other assessments immediately after BF, as well as at follow-up times including ICU discharge or up to 7 days later. Clinical measures such as pulse, respiratory rate, and blood pressure will be recorded before and during BF. Additional questionnaires will evaluate VR tolerance, drug use during BF, procedure quality, and patient satisfaction. The entire participation includes observation during BF and follow-up assessments for safety and experience.

This research aims to investigate children with Primary Ciliary Dyskinesia (PCD) to determine if they also have bronchial hyperresponsiveness, a condition where the air tubes in the lungs react strongly to environmental triggers like pollen, mold, pet dander, temperature changes, and viruses. Children with PCD often receive daily inhaled steroids to reduce airway sensitivity, but there is limited research confirming the need for this treatment. Participants will undergo a methacholine challenge test, where increasing doses of methacholine are inhaled to simulate airway triggers and measure breathing response through spirometry. If symptoms like shortness of breath or wheezing occur, albuterol will be given to open airways. The study includes at least two visits to the hospital, each lasting 2 to 2.5 hours, where breathing tests, medication inhalations, skin allergy testing, blood draws, and questionnaires will be completed. Visits one and two may be scheduled on the same day, and a third visit may be offered depending on eligibility. During the study, participants’ medical records will be reviewed for demographic and disease history. Researchers will measure bronchial hyperresponsiveness by comparing spirometry results before and after methacholine and bronchodilator use. The study may last up to one month for two visits or up to five months if a third visit is included. Safety is monitored throughout, and any discomfort from methacholine is temporary with no long-term effects expected.

This research aims to evaluate whether oral supplements of glycine and magnesium with thiamine can improve symptoms and lung function in patients with primary ciliary dyskinesia (PCD), a condition where mucus clearance is impaired and can lead to severe lung damage. Currently, treatment options for PCD are limited to supportive care, and this study investigates if these supplements, alone or combined, can reduce respiratory exacerbations and inflammation while improving quality of life. Participants will be randomly assigned to one of four groups to receive for 6 months either glycine, magnesium plus thiamine, a combination of glycine and magnesium plus thiamine, or a placebo. Glycine is given at 0.5 g/kg/day up to 25 g daily, magnesium (as magnesium citrate) up to 400 mg/day, and thiamine (as benfotiamine) up to 10 mg/day, all divided into three daily doses. Treatments are provided as a whitish powder in identical bottles, and participants continue their usual care alongside the study supplements. Throughout the 6-month study, participants will be monitored regularly every two months with various assessments including pulmonary function tests, oxygen saturation, saliva tests for inflammatory markers, and quality of life questionnaires. Weekly online symptom questionnaires will track respiratory exacerbations. The main outcome is the number of respiratory exacerbations during the study, with additional measures including lung function, physical growth, walking ability, and inflammatory compounds in saliva. The total participation time is 6 months with careful safety and adherence monitoring.

Researchers are conducting a participatory observational study to better understand primary ciliary dyskinesia (PCD), a rare chronic lung condition. Initially focused on the impact of COVID-19 on people with PCD, the study now aims to explore a wide range of health and quality-of-life issues important to those living with PCD, including lung health, mental well-being, treatment burden, and social participation. The study is hosted by the University of Bern and involves participants from around the world who have confirmed or suspected PCD. Participants join the study by registering online after reading detailed information. Upon joining, they complete a baseline questionnaire covering diagnosis, symptoms, treatments, exercise habits, and living conditions. Follow-up questionnaires are sent yearly to track disease progression and current health status. Occasionally, additional surveys focus on special topics like mental health, nutrition, or physical activity, with participants encouraged to suggest subjects of interest. The study started in 2020 and will continue to gather data through 2030. Throughout the study, participants provide information via online questionnaires, allowing researchers to monitor respiratory symptoms, exercise behavior, and treatments over time. Results are shared publicly on the study website to inform patients, physicians, and policymakers. This ongoing data collection helps generate knowledge about PCD and addresses questions raised by patients and families, supporting improvements in care and quality of life.

This research focuses on primary ciliary dyskinesia (PCD), a genetic disorder that impairs the function of respiratory cilia, leading to lung disease. The study aims to identify key genes involved in normal ciliary function and understand how genetic mutations cause PCD and contribute to other common airway diseases like asthma and chronic obstructive pulmonary disease. The project seeks to improve diagnosis and insight into the genetic variability affecting ciliary function. The study is observational and involves identifying genetic mutations in patients with PCD, including those with unusual ciliary structures or functions. Researchers analyze the ultrastructure, wave form, and beat frequency of cilia to correlate genetic mutations with ciliary abnormalities. They study patients with typical and atypical PCD presentations, including those with normal ciliary ultrastructure but abnormal function, using family-based and proteomic approaches. Participants include people diagnosed with PCD or healthy volunteers with a family member diagnosed with PCD. The study involves detailed clinical characterization and genetic analysis but does not involve any treatment interventions. Researchers aim to understand the relationship between mutations and ciliary function, which may help diagnose PCD better and explore its role in other airway diseases. This study is ongoing, with participation involving genetic and clinical evaluations over time.

Researchers are investigating new rehabilitation methods to improve breathing in people with chronic spinal cord injury (SCI), a condition that often leads to serious respiratory problems. This study aims to assess the effects of non-invasive spinal cord stimulation combined with respiratory training, exploring how these treatments can enhance lung function and the activity of respiratory muscles. Thirty-six adults with stable, chronic SCI will participate to help establish this approach as a promising therapy for respiratory rehabilitation. Participants will be randomly assigned to one of three groups: respiratory training alone, spinal cord transcutaneous stimulation (scTS) alone, or a combination of both. The scTS uses a device that applies electrical stimulation through electrodes placed on the skin over the thoracic spine and other areas. Respiratory training involves exercises using devices that create resistance during breathing to strengthen respiratory muscles. Each participant will complete 80 sessions of their assigned intervention over 16 weeks, with careful monitoring of vital signs during stimulation. Throughout the study, participants will undergo assessments before and after the interventions, including measurements of maximum inspiratory and expiratory pressures and muscle activity via surface electromyography. Additional tests will evaluate lung function, heart rate, blood pressure responses, and independence in daily activities. Follow-up evaluations will continue for 32 weeks to monitor lasting effects. This thorough testing helps researchers understand how these therapies impact breathing and overall function in individuals with chronic SCI.