Cystic Fibrosis

Researchers are evaluating new imaging techniques in adults aged 18 to 85 with lung diseases such as asthma, emphysema, COPD, bronchiectasis, sarcoidosis, pulmonary fibrosis, alpha 1-anti-trypsin deficiency, and lymphangioleiomyomatosis (LAM). The study aims to develop tools for analyzing lung function and structure using hyperpolarized Xenon 129 MRI alongside pulmonary function tests. This research is supported by Western University, Canada. Participants will undergo a series of tests during a one to two-hour visit, including medical history review, vital signs measurement, full pulmonary function testing following American Thoracic Society guidelines, proton MRI, specialized 129-Xe MRI scans using chest coils, and a low-dose thoracic CT scan. The MRI procedure includes monitoring heart rate and oxygen levels, providing hearing protection, and offering supplemental oxygen as needed. These imaging and testing methods help assess lung ventilation, diffusion, and gas exchange. During the study visit, participants will complete pulmonary function tests such as spirometry, plethysmography, and diffusing capacity tests. They will undergo magnetic resonance imaging with hyperpolarized Xenon gas to visualize lung airways and anatomy, along with CT scans matched to MRI breathing maneuvers. Researchers will measure ventilation defect percent (VDP), apparent diffusion coefficients (ADC), and dissolved phase spectroscopy over five years. Participant safety is monitored throughout the visit, and the total study duration includes these assessments and follow-up measures.

This research aims to evaluate the safety, tolerability, and early effectiveness of 4D-710, an investigational gene therapy, in adults with cystic fibrosis (CF) lung disease who cannot use or tolerate CFTR modulator therapy. It also includes a sub-study to assess this gene therapy in adults with advanced CF lung disease or frequent lung flare-ups while on current modulator treatments. The study is a Phase 1/2, open-label, multicenter trial focused on this population. Participants receive a single inhaled dose of 4D-710, a gene therapy using an adeno-associated virus to deliver a modified CFTR gene. The trial has different groups: those who cannot use modulator therapy will get varying doses to find the best dose for further study, while those on modulator therapy receive selected doses in the sub-study. The treatment is given once, and doses are explored and expanded to identify recommended levels. During the trial, participants are monitored for up to 60 months to track any side effects and overall safety. The main measure is the number and severity of adverse events. Participants will have lung function tests, oxygen level checks, and other health assessments throughout the observation period. The study will gather detailed safety and tolerability data to guide future research on this gene therapy in CF lung disease.

This research aims to evaluate the safety, tolerability, and nutrient absorption of the RELiZORB enzyme cartridge in children aged 2 to 18 years with Short Bowel Syndrome (SBS) who depend on parenteral nutrition (PN). SBS causes inadequate intestinal absorption due to significant loss of small bowel, requiring intravenous nutrition to maintain hydration and nutrition but leading to complications such as liver failure. The study explores whether predigesting fats with RELiZORB can improve absorption and reduce reliance on PN. The RELiZORB device is an enzyme cartridge connected to enteral feeding tubes that mimics pancreatic lipase to digest fats before they enter the gut, aiming to improve fat absorption without the need for bile acid emulsification. Participants will receive tube feeding through the device daily for 90 days. The study monitors changes in PN calories over time, along with growth, fecal fat, plasma fatty acids, and nutrition intake. Participants will be assessed at multiple time points during the 90-day treatment to evaluate PN calorie reduction and nutritional status. Safety and tolerability will be monitored by recording adverse events. The study involves regular clinical visits, laboratory tests, and nutrition assessments to measure the effectiveness of RELiZORB in improving enteral nutrition absorption and supporting growth while reducing PN dependence.

Researchers are conducting the GENESIS clinical study to map the HLA genomic region in the Greek population and explore its possible links with various underlying diseases. This non-interventional, multicenter study aims to provide a pilot map of genetic variation in HLA that may be useful in medical research and clinical applications related to selected diseases. The study plans to include 12,000 participants over a total duration of 36 months. Each participant will attend one visit at a participating site during which they will provide demographic data, lifestyle information such as smoking and alcohol use, blood pressure measurements, details on diagnosed diseases and treatments, and recent laboratory test results if available. Buccal swab samples will be collected from each participant to extract DNA for HLA genotyping analysis. Selected samples will undergo further whole genome sequencing to investigate associations with autoimmune diseases. Participants will receive a personalized ancestry report after analysis completion. During the study visit, data collection includes demographic and health information, as well as laboratory and clinical test results from the past year. The genetic material from buccal swabs will be stored and processed for genetic analysis. Researchers will measure allele frequency of HLA alleles in the Greek population and assess the prevalence and risk associations of selected HLA-related diseases. The study's total duration is 36 months with results available at the end of this period.

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 safety of aerosolized RSP-1502, a drug containing tobramycin and CaEDTA, in people with cystic fibrosis who have chronic lung infections caused by Pseudomonas aeruginosa. This phase 1b/2a study compares different doses of RSP-1502 to an active control treatment to find the highest tolerated dose and assess safety. The study is double-blind, meaning neither participants nor researchers know who receives which treatment during the study. Participants will inhale RSP-1502 or the active control, which is tobramycin inhalation solution, over 14 days. The study includes dose escalation cohorts receiving increasing doses of RSP-1502 combined with a fixed dose of tobramycin, followed by a dose expansion cohort at the maximum tolerated dose (MTD). Treatments are delivered via a nebulizer device designed to administer the medication directly to the lungs. During the study, participants will undergo evaluations including spirometry tests, electrocardiograms, and monitoring for any adverse events from Day 1 through Day 28, which covers the 14 days of treatment and 14 days of follow-up after dosing. Researchers will also analyze drug levels in the body at various time points and monitor for lung exacerbations and safety signals. The total participation period is 28 days per participant.

Acute respiratory failure is a serious medical emergency that can quickly lead to death without prompt treatment. Researchers are evaluating a new portable device designed to provide Continuous Positive Airway Pressure (CPAP) support outside of hospital settings. This device aims to be easy to use by non-medical individuals and to improve outcomes for patients experiencing respiratory failure. The study will test the device's effectiveness and usability in two groups: healthy elderly adults who will self-apply the device, and hospitalized patients with mild oxygenation impairment. The device is designed to deliver positive end-expiratory pressure (PEEP) between 4 and 7.5 cmH2O, and its performance will be assessed in real-world clinical settings across three hospitals. Participants will be monitored for up to 2 hours during device use, with assessments including how easy the device is to use, duration of proper pressure delivery, battery consumption and duration, and changes in blood oxygen levels (SpO2). The study will collect data to support the device's future use as a first-aid tool for respiratory failure outside hospitals. The total study duration and follow-up details are not specified.

Coughing is a common and distressing symptom for people with interstitial lung disease (ILD), affecting daily activities, work, and social life. This research explores a non-drug cough control therapy combined with pulmonary rehabilitation to see if it is practical and helps reduce chronic cough lasting more than eight weeks in ILD patients. The study aims to assess how well patients accept this therapy and whether it improves quality of life, cough symptoms, and fatigue compared to standard pulmonary rehabilitation alone. Participants will join a pulmonary rehabilitation program involving aerobic and strengthening exercises, disease-specific education, and self-management as usual care. Two weeks before finishing this program, they will receive four virtual sessions of 45 to 60 minutes each, focusing on cough control education and techniques. These sessions include assessing cough, learning suppression methods, breathing retraining, and reinforcing strategies to manage cough in daily life. During the study, researchers will track enrollment and attendance to measure feasibility, along with various clinical outcomes like cough severity questionnaires, fatigue scales, breathlessness ratings, and patient satisfaction interviews. The intervention is delivered online via Zoom, allowing remote participation. The total study duration averages one year, with ongoing assessments to understand the therapy's impact and participants' experiences.

Researchers are evaluating SP-101, an investigational gene therapy, in adults with cystic fibrosis (CF) who cannot use or tolerate CFTR modulator therapy. This Phase 1/2, first-in-human study aims to assess the safety, how the body processes the drug, and its biological effects with varying doses. The trial is open-label and conducted at multiple centers. Participants receive a single inhaled dose of SP-101 combined with doxorubicin at different dose levels. The study includes three groups: Dose 1, Dose 2, and a selected dose expansion group. Each participant will receive only one inhalation treatment during the trial. During the study, researchers will monitor participants for adverse events over 52 weeks to evaluate safety. They will also measure how the drug behaves in the body and its impact. Participants will have regular assessments including lung function tests and oxygen levels. The trial lasts about a year, during which participants will be closely observed and evaluated.

Researchers are evaluating the safety, tolerability, and biodistribution of a drug called RCT2100 in both healthy adults and people with cystic fibrosis (CF). This phase 2 study aims to provide initial safety data to support future clinical research. The study includes participants aged 18 to 60 years and assesses different dosing regimens and co-administration with another drug, ivacaftor, in those with CF. The study is divided into three parts. Part 1 involves a single ascending dose of inhaled RCT2100 given via nebulizer to healthy participants. Part 2 evaluates multiple ascending doses of inhaled RCT2100 in participants with CF over 4 to 12 weeks. Part 3 assesses the safety of RCT2100 combined with oral ivacaftor for 6 weeks in participants with CF after an initial ivacaftor run-in period. Placebo doses are also used in Part 1 for comparison. Participants will undergo various assessments including monitoring for adverse events and serious adverse events from baseline through follow-up periods (up to 24 weeks for parts involving CF participants). They will receive study treatment by inhalation and oral dosing (ivacaftor in Part 3) and have regular safety evaluations including clinical labs, vital signs, lung function tests, and ECGs. The study involves randomized allocation and double-blinding to evaluate safety and tolerability comprehensively over the treatment and follow-up periods.