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Active clinical trials for "Cystic Fibrosis"

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Iron Metabolism in Cystic Fibrosis

Iron MetabolismCystic Fibrosis

Iron is a biologically essential micronutrient. Iron deficiency alters erythropoiesis and is considered as a major cause of disability worldwide. Interestingly, iron overload is never observed in cystic fibrosis contrarily to others chronic respiratory diseases. Moreover, iron deficiency reported prevalence in CF is very high (up to 60% in retrospective series) and is correlated to an alteration of respiratory function. Cystic fibrosis patients should be tested annually for iron deficiency. Serum ferritin is the best diagnosis tool for iron deficiency (specificity 87% for a threshold < 30 µg/L). Previously published studies used less performant markers such as serum iron (< 12 µmol/L) or transferrin saturation (< 12%), which are markedly influenced by the systemic inflammation. CF patients experiences frequent pulmonary exacerbations leading to systemic inflammation: iron stores should therefore be assessed at optimal time with no inflammation. The I-MUCO study aims to determine the exact prevalence of iron deficiency in CF patients. We aimed to identify risk factors for iron deficiency onset.

Unknown status6 enrollment criteria

Small Intestinal Function in Patients With Cystic Fibrosis

Cystic FibrosisGastrointestinal Motility

In patients with Cystic fibrosis (CF) epithelial transport of chloride and sodium is disrupted in several organs such as airways, sweat glands, pancreas and intestines. Gastrointestinal symptoms are frequent but little is known about intestinal motility and function. Earlier studies using lactulose/hydrogen breath tests have found altered intestinal transit time. The method has several sources of errors and results have been questioned. This study is using a new, non invasive method to study intestinal motility patterns and transit times, Magnetic Tracking System - 1 (MTS-1). The aim is to compare patterns of contractility and transit times in the stomach and small intestine in adult CF- patients with healthy controls. Methods MTS-1 is performed without radiation and is associated with minimal discomfort for subjects. A small magnetic pill is ingest and detected by a matrix of sensors. Position and orientation of the magnet are defined by five coordinates (position: x, y, z, angle: φ, θ). Frequencies of slow waves as well as number and power of phase III contractions can be identified. Colorectal transit times are determined with a plain abdominal x-ray. The subjects are asked to ingest a capsule containing 10 radiopaque markers on six consecutive days up to examination. The total number of markers in the entire colorectum is counted. Total transit time, as well as segmental is calculated. Subjects 15 adult patients (> 18 years) with CF, homozygote for the mutation ΔF508, are studied. They are all pancreas insufficient (fecal elastase < 100 µg/g), with no previous intestinal resection or lung transplantation. None of them have diabetes. Patients are all in well-regulated pancreatic enzyme replacement therapy (PERT), thriving and with stabile weight over the last half year. They have had no treatment with antibiotics in the last 14 days up to the examination. The hypothesis is that patterns of contractility and transit times are the same for CF-patients in well -regulated PERT as for healthy controls.

Unknown status7 enrollment criteria

Standardisation of Measurements in Exhaled Breath and Exhaled Breath Condensate.

AsthmaCystic Fibrosis2 more

Background: in various pediatric pulmonary diseases such as asthma, cystic fibrosis or bronchopulmonary dysplasia an increased inflammation is present. Measuring this inflammation is often hardly possible and requires invasive techniques such as bronchoscopy. With the use of exhaled breath condensate (EBC) or exhaled breath (EB) analysis it is possible to measure the inflammation in an non-invasive way. However, there is a great need to further standardise these measurements and to identify possible confounding factors.

Unknown status17 enrollment criteria

Longitudinal Pathogen-colonization in Cystic Fibrosis Airways and Ability to Smell

Cystic Fibrosis With Other ManifestationsSinusitis

Aim of the study is to detect the prevalence of chronic rhinosinusitis, pathogen colonization of the lower and upper airways and, in a sub-cohort the sense of smelling in patients with cystic fibrosis.

Unknown status1 enrollment criteria

Tissue Bank for Pulmonary Diseases

Cystic Fibrosis

The aim of this research study is to collect and store the specimens that are left over after patients undergo tests ordered by their physicians. These specimens will be used at a later time by researchers in the Pulmonary Division to develop a better understanding of pulmonary diseases or for the development of new treatments. Typical research studies that will be conducted on the stored tissue, fluid, or bacteria from the patient sample involve obtaining bacterial cultures, measurement of inflammatory markers, and examination of the characteristics of the tissue. Other similar tests may be done in the future; however, these tests have not all been determined at this time. It is important to note that no genetic testing will be performed on any samples that are obtained as part of this protocol.

Unknown status1 enrollment criteria

Ocular Surface Changes in Patients With Cystic Fibrosis

Eye Manifestations

Cystic fibrosis(CF) is an inherited disease affecting children, adolescents and young adults with dysfunction of secretory glands.It is caused by mutations in the protein-coding gene which function as the cystic fibrosis transmembrane regulator (CFTR), responsible for the secretion of chloride ions in epithelial cells, adenocytes, sweat gland cells, pancreatic ducts,alimentary and respiratory tracts and eye. Assessment of the relationship between the inflammatory processes and apoptosis in the eye in the course of cystic fibrosis will allow determination of immunological exponents which may facilitate diagnosis.

Unknown status6 enrollment criteria

Exocrine Pancreatic Function Testing in Cystic Fibrosis

Cystic Fibrosis

Purpose The purpose of this study is to develop and validate multimodal testing of exocrine pancreatic function (EPF). The investigators will be testing exocrine pancreatic function in patients with cystic fibrosis (CF). Exocrine pancreatic function and imaging will be correlated to age group, genotype, nutritional status and quality of life. Earlier detection of exocrine pancreatic failure in the non classical form of cystic fibrosis may be of therapeutically benefit. Hypotheses Endoscopic short test can be applied in diagnosing and monitoring exocrine pancreatic function in patients with cystic fibrosis. New functional testing of exocrine pancreatic function is superior to traditional testing with fecal elastase. MRI and ultrasound methods can give volume output estimate in cystic fibrosis patients. Contrast enhanced ultrasound can quantify reduced or delayed pancreatic perfusion and parenchymal changes in cystic fibrosis patients. Elastography/ CEUS can be used in prediction and monitoring of fibrosis development and development of hepatocellular carcinoma in the liver of cystic fibrosis patients. Immunohistochemical quantification of secretin/ cholecystokinin (CCK) producing cell in duodenum can be utilized as a model hormonal signaling in cystic fibrosis patients with exocrine pancreatic function.

Unknown status2 enrollment criteria

Non-invasive Prenatal Diagnosis of Monogenic Disorders by Linked-reads Technology

Cystic Fibrosis

Description of the presence of cell-free fetal DNA in maternal plasma allowed the possibility of non-invasive prenatal diagnosis. Whereas detection of paternally-inherited alleles is straightforward and being quickly implemented in routine, detection of maternally-inherited alleles remains challenging. To date, the main approach that is being developped, called Relative Haplotype Dosage Analysis, relies on the identification of an allelic imbalance between the mother's wild-type and mutant alleles, relative to the fetal's contribution. This approach therefore requires the study of a propositus to identify the morbid haplotype, which is not always possible in the context of an ongoing pregnancy. In this study, we aim to evaluate the contribution of new technologies, such as linked-read Sequencing, to allow direct identification of parental haplotype in the context of non-invasive prenatal diagnosis.

Unknown status5 enrollment criteria

MRI in Cystic Fibrosis and Primary Ciliary Dyskinesia

Cystic FibrosisPrimary Ciliary Dyskinesia

This is a small pilot / feasibility study (Approximately 50 patients) to assess the possibility of clinical implementation of MRI assessment of patients with cystic fibrosis and primary ciliary dyskinesia. Patients will undergo their standard CT imaging and lung function investigations and additionally will undergo MRI examination. Reports from CT (the current gold standard) and MRI will be assessed for concordance and patient acceptability and examination implementation costs will also be assessed. Novel MRI-based potential markers of CF and PCD disease state will also be assessed.

Unknown status2 enrollment criteria

Transition From Pediatric to Adult Cystic Fibrosis Care Center

Cystic Fibrosis

The main objective of register-SAFETIM is to assess the impact of the transition from pediatric to adult cystic fibrosis care center on changes in lung function and nutritional status of patients. This is a multicenter, observational, longitudinal, with analysis of the French national registry data of patients with cystic fibrosis. Our study will assess the clinical features of adolescent patients with cystic fibrosis during the transition from pediatric care to adult care. It will explore factors associated with the impact of the transition on the clinical course of adolescent patients (respiratory and nutritional functions).

Unknown status2 enrollment criteria
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