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221 active trials for Cystic Fibrosis

Thoracic Mobility in Cystic Fibrosis Care

Cystic fibrosis (CF) is an inherited, genetic disease of the body's mucus-producing glands that primarily affects the lungs and gastrointestinal tract. There are no studies that have examined anatomical changes, the connection between structure and function in the ribcage and the effect of symptom-relieving manual treatment. The purpose of the study is therefore to investigate chest mobility in people with CF. Method The study is conducted in three parts; a / A retrospective longitudinal part whose purpose is to investigate possible changes in the chest configuration in relation to deterioration of lung volumes in a cohort of CF patients. Chest configuration will be measured standardized and blinded on computed tomography (CT) images and related to results from spirometry examinations. b / A prospective, consecutive cross-sectional study of the same cohort. The aim is to investigate the extent of stiffness and pain that is examined standardized (number of pain-free / normal moving structures) and its relation to objective examination of respiratory movements, respiratory muscle strength and spirometry. c / A randomized controlled single-blind study aimed at evaluating the effect of manual treatment for pain and reduced mobility in patients with these symptoms. The treatments consist of standardized manual therapy with passive joint mobilization without impulse and soft tissue treatment. Evaluation will be done via the examination protocol in sub-study b / as well as objective measurements of respiratory movements (primary variable), respiratory muscle strength and spirometry which will be performed by a blinded tester both before and immediately after the intervention / control period. Clinical significance When it comes to CF care, great medical advances have been made and for Swedish patients, the physiotherapeutic active treatment has proven to have very good effects. However, there are areas where care can be improved. The results from our study will provide additional breadth to strategies in CF care

Start: September 2019

Identification of Predictive Epigenetic Biomarkers of Lung Disease Severity in Cystic Fibrosis

The general aims of this project are (i) to identify predictive epigenetic biomarkers of lung disease severity in Cystic Fibrosis, (ii) to characterize a non-invasive cellular model, spontaneous sputum, for the analysis of these epigenetic biomarkers, (iii) to analyze the variations in DNA methylation for a same patient over time.

Start: December 2016

Implementation of a Clinical Tool to Improve Waitlist Mortality in Patients With Cystic Fibrosis

Start: April 2020

A Pilot Study to Assess the Effect of Intermittent iNO on the Treatment of NTM Lung Infection in CF and Non-CF Patients

The purpose of this open-label, multicenter, non-randomized, pilot study is to assess the safety of high dose intermittent iNO for treatment of NTM infection in CF and non-CF patients.

Start: December 2020

Effects of a Telerehabilitation Approach in Children With Cystic Fibrosis

Patients with cystic fibrosis aged 6-13 will be recruited and randomized into two groups: one will receive telerehabilitation sessions including postural, breathing and high-intensity interval training exercises and one will be subject to routine follow up. Exercise program will be applied three days a week for three months. Children will be assessed by pulmonary function tests, cystic fibrosis quality of life questionnaire, six minute walking test and anxiety and depression scale in children, while caregivers will be assessed by Beck depression scale and situational anxiety inventory.

Start: January 2021

Natural History of Noncirrhotic Portal Hypertension

Background: - Noncirrhotic Portal Hypertension (NCPH) is caused by liver diseases that increase pressure in the blood vessels of the liver. It seems to start slowly and not have many warning signs. Many people may not even know that they have a liver disease. There are no specific treatments for NCPH. Objectives: - To learn more about how NCPH develops over time. Eligibility: - People age 12 and older who have NCPH or are at risk for getting it. In the past year, they cannot have had other types of liver disease that typically result in cirrhosis, liver cancer, or active substance abuse. Design: Participants will have 2 screening visits. Visit 1: to see if they have or may develop NCPH. Medical history Physical exam Urine and stool studies Abdominal ultrasound Fibroscan. Sound waves measure liver stiffness. <TAB>- Visit 2: Blood tests Abdominal MRI Echocardiogram Questionnaire Liver blood vessel pressure (hepatic venous portal gradient (HVPG)) measurement. This is done with a small tube inserted in a neck vein. They may have a liver biopsy. All participants will visit the clinic every 6 months for a history, physical exam, and blood tests. They will also repeat some of the screening tests yearly. Participants with NCPH will also have: Upper endoscopy test. A tube inserted in the mouth goes through the esophagus and stomach. At least every 2 years: Esophagogastroduodenoscopy. At least every 4 years: testing including HVPG measurements and liver biopsy. Participants without NCPH will also have: Liver biopsy and HVPG measurements to see if they have NCPH. Every 2 years: abdominal MRI and stool studies. The study will last indefinitely.

Start: July 2015

A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of Ivacaftor in Subjects With Cystic Fibrosis Who Are Less Than 24 Months of Age and Have an Ivacaftor-Responsive CFTR Mutation

The purpose of this study is to evaluate the safety of ivacaftor treatment, and PK of ivacaftor and metabolites in subjects with cystic fibrosis (CF) who are <24 months of age at treatment initiation and have an ivacaftor-responsive CF transmembrane conductance regulator (CFTR) gene mutation.

Start: March 2016

Non-contrast Lung Perfusion Mapping Applied for New Insights in Cystic Fibrosis

Cystic fibrosis (CF) results in the thickening of mucus in the lungs and other organs due to dysfunction of a transmembrane conductance protein. This allows buildup of bacteria that results in inflammation, leading to tissue breakdown and loss of function. In the lungs, this process causes loss of air exchange structures progressing to diminished lung function. The exchange of oxygen in the lungs depends on both the integrity of air conduits and vasculature. Most clinical assessments, however, focus on ventilatory function, with the assumption that any vascular compromise is secondary. Nevertheless, there is evidence, some from the investigator's lab, to suggest that perfusion anomalies in the lung occur before signs of ventilatory dysfunction. Thus, the inflammatory processes of CF may impact pulmonary microvasculature specifically and concurrently or prior to damage to ventilatory structures. This study aims to apply a new MRI method to serially measure regional lung perfusion, without the use of contrast agent, in children with CF and to associate it with regional assessments of ventilation and to serum cytokines or proteomic markers of angiogenesis and inflammatory processes. The investigator's lab has recently developed a noninvasive, non-contrast, method of labeling blood flowing into the lungs and generating a map of perfusion. The investigator aims to couple this technique to existing methods using hyperpolarized Xenon to map ventilation. The investigator will apply these methods over time in CF patients, monitoring the relationship between regional perfusion and ventilation defects. This pilot work will provide the foundation for larger studies to establish the essential etiological role of perfusion deficits in CF.

Start: November 2020

Rare CFTR Mutation Cell Collection Protocol (RARE)

Over 1,900 mutations in the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) protein are implicated in causing Cystic Fibrosis (CF). Potential therapies that directly target defective CFTR are being evaluated in important clinical trials, but most target the most common CFTR mutation F508del. Many patients with rare CF mutations are not able to participate in those studies. The RARE study is specifically designed for people with CF caused by rare mutations. Eligible rare mutations are listed below: CF patients who are homozygous for pre-mature stop codons CF patients with two mutations in the CFTR gene: i. One allele must be a F508del ii. The other allele must be a pre-mature stop codon mutation CF patients with two mutations in the CFTR gene: i. At least one allele must be a pre-mature stop codon mutation ii. The second allele can be any of the following: G85E, N1303K, R334W, 3849+10kb C->T, 621+1G->T CF patients who are homozygous for: G85E, N1303K, R334W, 3849+10kb C->T, or 621+1G->T This is a multi-site, specimen collection study. Investigators will collect blood, intestinal cells and nasal cells from each participant. Cells from these specimens will be used to test future CFTR modulators to see if they might work for people with study eligible rare mutations. Having cells to test in the lab is an important first step in identifying potential new therapies for people with these mutations.

Start: October 2017

Physical Activity, Exercise Capacity and Coronavirus Phobia of Adult Cystic Fibrosis Patients During COVID-19 Pandemic

The purpose of this study was to evaluate physical activity, exercise capacity, quality of life, cognitive status level and coronavirus phobia level of adult cystic fibrosis patients and compare with the findings of healthy subjects with teleconference during COVID-19 pandemic.

Start: November 2020

Pharmacokinetics of Polymyxin B in Adult Patients With Cystic Fibrosis

Cystic fibrosis (CF) pulmonary disease is a major cause of morbidity and mortality in CF patients and is punctuated by episodes of acute exacerbation that require antibiotic treatment. Pseudomonas aeruginosa is the predominant bacterial pathogen isolated in patients with acute exacerbations, and practice guidelines recommend combination antibiotics directed against this pathogen as initial therapy. Such therapy traditionally consists of an antipseudomonal beta-lactam with either an antipseudomonal fluoroquinolone or an aminoglycoside. With growing P. aeruginosa multi-drug resistance, more adult patients present with isolates resistant to these traditional options. The polymyxins are a class of cyclic peptide antibiotics that exert bactericidal activity through binding to the lipopolysaccharide component of gram-negative bacterial membranes and include colistin and polymyxin B (PMB). In recent years, there is growing evidence of increased rates of acute kidney injury associated with colistin in critically ill patients. Additionally, population pharmacokinetic (PK) studies suggest that fixed drug dosing may yield an improved therapeutic index over the traditional weight-based dosing of this agent. Thus there is growing interest in use of PMB as an alternative in CF acute exacerbations but the optimal dosage regimen is not known. This is a single-center, open-label, non-interventional study to characterize the pharmacokinetics and safety of fixed-dose PMB in adult patients with CF by measuring serum concentrations in patients receiving IV therapy as a part of routine care. This study will help to validate existing population PK models and allow for adjustment of patient specific covariates (i.e. weight, renal function) unique to adult patients with CF. The study will also monitor for nephrotoxicity and neurotoxicity to determine if PMB has an acceptable margin of safety in this patient population. This investigation is the first to prospectively validate the pharmacokinetics and toxicities of fixed-dose PMB in CF and will guide optimal use of this compound in the management of acute pulmonary exacerbations.

Start: January 2019

Medication Adherence and Non-adherence in Adults With Rare Disease

The purpose of this study is to use the Medication Adherence Reasons Scale (MAR-Scale) to determine the extent of non-adherence to specific medications indicated to treat cystic fibrosis, hemophilia (A or B), idiopathic pulmonary fibrosis, myasthenia gravis, and sickle cell disease, and to identify the top patient-reported reasons for non-adherence. Internal reliability of the MAR-Scale will also be assessed in each condition.

Start: January 2021

Prediction by Ultrasound of the Risk of Hepatic Cirrhosis in Cystic Fibrosis

The specific aims for this study are: To determine if sonographic findings predict the risk of progression of liver disease to cirrhosis by comparing cystic fibrosis subjects with heterogeneous echogenicity pattern on ultrasound to those with normal echogenicity pattern on ultrasound To develop a database and biorepository of serum, plasma, urine and DNA to aid the investigations in ascertaining the mechanisms, consequences, genetic risk factors and biomarkers for the development of cirrhosis To determine if there are differences in health related quality of life, pulmonary or nutritional status in children with cystic fibrosis who have a heterogeneous echo pattern on ultrasound compared to those who have a normal echo pattern on ultrasound To determine if Doppler velocity measurements of hepatic and splenic vessels predict an increased risk for the development of cirrhosis. To determine if cirrhosis on ultrasound progresses to portal hypertension during the study period To determine if homogeneous liver progresses to either cirrhosis or heterogeneous liver. To determine the frequency of complications of portal hypertension during follow up in those identified with cirrhosis by year 6 of the study

Start: January 2009

A Phase 2 Study of ABBV-3067 Alone and in Combination With ABBV-2222

This study will evaluate the safety, tolerability, and efficacy of ABBV-3067 given alone and in combination with various doses of ABBV-2222 in adults with Cystic Fibrosis who are homozygous for the F508del mutation.

Start: December 2019

A Study to Evaluate the Safety and Efficacy of Long-term Treatment With TEZ/IVA in CF Subjects With an F508del CFTR Mutation

This study will evaluate the long-term safety and tolerability of tezacaftor in combination with ivacaftor (TEZ/IVA) in subjects with cystic fibrosis (CF) aged 6 years and older, homozygous or heterozygous for the F508del mutation.

Start: April 2018

Gut Imaging for Function & Transit in CF - GIFT-CF 3

An observational study of patients with cystic fibrosis (CF) starting treatment with Kaftrio (Elexacaftor / Tezacaftor / Ivacaftor) as part of routine clinical care, following EMA licensing (approved end of Aug 2020). Patients with CF who are p.Phe508del homozygotes will already be receiving the less effective CFTR modulator drug Symkevi (Tezacaftor / Ivacaftor) and will switch to KaftrioTM. Patients who are who are compound heterozygotes for p.Phe508del / minimal function mutation currently have access to no effective CFTR modulator and will be starting a CFTR modulator (Kaftrio) for the first time. Participants attend a study visit before Kaftrio treatment commences, followed by visits at 12 and 24 weeks after starting treatment. At each visit they will be scanned before and after standardised meals in the morning and mid-day (11 scans in total over 6 hours). No intravenous contrast or bowel preparation will be used. Participants will complete questionnaires on gastrointestinal symptoms as well as providing stool and sputum samples for assessment of microbiome and stool for inflammatory mediators and pancreatic function (elastase).

Start: October 2020

Connexin Genotypes in Cystic Fibrosis

Background: There is wide variety in lung disease phenotype for the delta F508 (homozygous) genotype. A leukocyte driven inflammation is most important for the pathogenesis of pulmonary disease in CF. Blood cytokines correlate negatively with pulmonary function in delta F508 homozygous patients. Gap junction proteins might be of importance for the influx of blood cells into the lung and may influence the course of pulmonary inflammation. A primary analysis (Horn et al. 2020) has shown that GJA4 variants (rs41266431) are linked to more severe disease in CF. This is very similar to variants of MBL. Aims: To assess the relationship between gap junction proteins alpha 1 (GJA1/Connexin 43) and alpha 4 (GJA4/connexin 37) genotypes and clinical disease phenotype. Moreover are GJA4 variants in terms of clinical phenotype independent of MBL variants. Methods:Patients homozygous for delta F508 get recruited from the CF centres of Bonn, Frankfurt and Amsterdam. Sequence analysis is performed for connexin 43 and 37 and MBL genotypes. Clinical disease is assessed longitudinally over 3 years by pulmonary function tests (FEV1 (forced expiratory volume in one second), FVC (=(forced vital capacity), FEF75 % (Forced expiratory flow at 75% of the pulmonary volume) pred), BMI (percentiles), P. aeruginosa colonization, diabetes mellitus and survival to end-stage CF lung disease (death or lung transplantation).

Start: April 2002

Safety and Efficacy of 2 Treatment Regimens of Aztreonam for Inhalation Solution in Children With Cystic Fibrosis and New Onset Pseudomonas Aeruginosa Infection

The primary objective of this study is to evaluate the safety and efficacy of a 14-day course versus a 28-day course of aztreonam for inhalation solution (AZLI) in participants with new onset Pseudomonas aeruginosa respiratory tract infection.

Start: November 2017

Correction of Nonsense Mutations in Cystic Fibrosis

The presence of a nonsense mutation leads to the rapid degradation of the carrier mRNA mutation by a mechanism called NMD (nonsense-mediated mRNA decay) [6, 13]. There are currently 3 main strategies at least for correcting nonsense mutations: exon skipping, inhibition of NMD and nonsense mutation readthrough. In the laboratory, we developed a strategy for correcting nonsense mutations combining inhibition of NMD and activation of translecture. For this purpose, we have constructed screening systems to identify NMD-inhibiting and/or readthrough enhancers. The molecules thus identified are then tested on cell lines and in murine models carrying a nonsense mutation. One of our goals is to select a set of molecules that can correct effectively nonsense mutations. For this we have to test these molecules on a great diversity of nonsense mutations. This work will: determine if we can correct all the nonsense mutations tested with at least one of our molecules determine what is common within a group of mutations corrected by a given molecule be able to assign the parameters that make one mutation is corrected by one molecule and not or little by another. This study will therefore improve our theoretical knowledge on the recognition of premature stop codons but also to propose therapeutic approaches for the correction of nonsense mutations of the CFTR gene in cystic fibrosis in a targeted way for a patient.

Start: February 2016

Assessment of Contraceptive Safety and Effectiveness in Cystic Fibrosis

The long-term goal is to study the safety and effectiveness of hormonal contraception for women with cystic fibrosis (CF) and contribute to national guidelines that the Cystic Fibrosis Foundation and the Centers for Disease Control and Prevention (CDC) provide to clinicians. The study objectives are to determine whether hormonal contraceptive methods improve overall pulmonary health, worsen CF-related disease or CF liver disease, or are effective against unwanted pregnancy with concomitant CF transmembrane conductance regulator (CFTR) modulator use. The hypothesis is that hormonal contraceptive methods are safe and do not worsen CF-related complications over time,improve FEV-1 when compared to non-hormonal users, and oral birth control methods with CFTR modulator use.

Start: September 2020