View clinical trials related to Cystic Fibrosis.
Filter by:Undernutrition is a common problem in patients with cystic fibrosis (CF) despite international consensus that the patients shall be given 120-200% of energy recommendations. Studies imply that one problem might be that the patients are not compensated for the essential fatty acid deficiency (linoleic acid, LA), which is well known in these patients. This deficiency is shown not to be due to fat malabsorption, but related to an increased turnover of arachidonic acid, a transformation product of LA. This abnormality is related to mutations associated with a more severe clinical phenotype. The most common and typical symptom of LA deficiency is poor growth. Studies in animals have further indicated that many of the symptoms in CF are related to the deficiency. A series of recent prospective studies from Wisconsin corroborate the importance of LA for growth. In Sweden LA has been supplemented to most patients since the late 70´, and the condition of patients have been among the leading in the world regarding growth, pulmonary function and survival. Short-term studies have shown better effect of LA supplementation compared to similar supply of energy without including extra LA. There are few long-term studies, performed before the gene was identified, giving very heterogeneous patient groups in regard to genotype, but with some positive results on growth and physiology. It´s of interest that modern personalized extremely expensive therapy with correctors and potentiators for Cystic Fibrosis Transmembrane Conductance Regulator may influence lipid metabolism. LA might thus tentatively be a cheap adjuvant to this modern therapy, but this has to be specially studied. The aim of the study is to find if there are differences in clinical and metabolic outcome between two groups, blindly given similar amount of extra calories, in one group consisting of linoleic acid.The benefit for the patients would be great if the expected positive effect can be proved in the planned study. The treatment will be cheap and without adverse effects. From socioeconomic point of view is would be a great advantage.
Cystic fibrosis (CF) is the most common autosomal recessive inherited genetic disorder in North America, Australia and Europe. CF is due to cystic fibrosis transmembrane conductance regulator gene mutation (CFTR) coding for a chloride channel located at the apical membrane of epithelial cells. The most common mutation is the deletion of the amino acid phenylalanine at the codon 508 (ΔF508) affecting 70% of the patients. The CFTR channel participates in the regulation of the volume and composition of exocrine secretions. At the level of the lungs, this results in a thickening of the mucus with a dysfunction of the mucociliary clearance promoting colonization of pathogenic microorganisms. Patients with cystic fibrosis therefore have a natural susceptibility to develop acute and then chronic respiratory infections, gradually leading to irreversible respiratory tract lesions called bronchiectasis. Different germs such as Haemophilus influenzae and Staphylococcus aureus colonize the airways early in life. The progression of the disease causes furthermore a colonization by opportunistic germs such as Pseudomonas aeruginosa and Burkholderia cepacia, which are associated with higher mortality. Pulmonary exacerbation is a common complication of CF requiring administration of antibiotics. The choice of these antibiotics depends on the germs that the patient carries in his respiratory tract. The type of sampling and the conditions under which they are taken are therefore very important. Sputum and oropharyngeal smear are used in adolescents and children respectively to collect respiratory secretions in clinical routine. The recent literature describes induced sputum, obtained after a physiotherapy session and a hypertonic serum aerosol, as superior to the oropharyngeal smear alone and equivalent to bronchoalveolar lavage for the evaluation of the microbiological profile of patients who cannot expectorate. However, this technique takes time and requires the presence of a physiotherapist. Bronchoalveolar lavage is reserved for complex cases that do not respond to standard treatments. Finally, the nasal flora appears to be involved in the colonization of the lower respiratory tract. Sinuses are described as reservoirs of germs that can induce a recolonization of the lungs despite eradication of the germ (for example after a pulmonary transplantation) . To our knowledge, no study has investigated the involvement of nasal flora in the clinical course of children with CF.
Cystic fibrosis is the most common hereditary autosomal recessive disease in the Caucasian population. The diseases is caused by a mutation of the gene coding for the CFTR protein (Cystic fibrosis transmembrane conductance regulator), an ion channel present at the apical pole of the epithelial cells. The channel dysfunction induces a deficit in hydration and a hyperviscosity of different exocrine secretions. Clinically, Cystic fibrosis is a multi-systemic disease. Pulmonary and pancreatic involvement are classically in the foreground. Degradation of respiratory function, associated with acute and chronic infections, represents the major cause of morbidity and mortality. Pseudomonas aeruginosa is a ubiquitous gram-negative bacillus found primarily in stagnant water. Pseudomonas aeruginosa is capable of colonizing the digestive, pulmonary and urinary mucosa and the skin. This bacterium is incriminated in many opportunistic infections including respiratory infections in patients with cystic fibrosis. Pseudomonas aeruginosa infection is the most common parenchymal lung infection in the Cystic fibrosis community. Pseudomonas aeruginosa chronic carriage represents a factor of poor prognosis associated with an increase in morbidity and mortality. Complications related to chronic carriage of Pseudomonas aeruginosa justify the implementation of strategies of eviction, screening and eradication of acute Pseudomonas aeruginosa infection. In addition to Pseudomonas aeruginosa contamination of patients via the environment, hand and airborne infections between patients with Cystic fibrosis have been reported. Measures to eliminate cross-transmissions have therefore been implemented in a majority of hospitals. The aim of the study is firstly to identify the number of Pseudomonas aeruginosa cross-transmissions between patients with Cystic fibrosis followed-up in Cystic fibrosis center of HUDERF. Investigator will use the Pulsed-Field Gel Electrophoresis to assess the possibility of cross-infection. Depending on the results, Investigator will implement new strategies to avoid future cross-contamination in our different places of care (consultation, hospitalization, physiotherapy…).
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and families who screen positive, and 3) evaluate the Early Check program. The Early Check screening will lead to earlier identification of newborns with rare health conditions in addition to providing important data on the implementation of this model program. Early diagnosis may result in health and development benefits for the newborns. Infants who have newborn screening in North Carolina will be eligible to participate, equating to over 120,000 eligible infants a year. Over 95% of participants are expected to screen negative. Newborns who screen positive and their parents are invited to additional research activities and services. Parents can enroll eligible newborns on the Early Check electronic Research Portal. Screening tests are conducted on residual blood from existing newborn screening dried blood spots. Confirmatory testing is provided free-of-charge for infants who screen positive, and carrier testing is provided to mothers of infants with fragile X. Affected newborns have a physical and developmental evaluation. Their parents have genetic counseling and are invited to participate in surveys and interviews. Ongoing evaluation of the program includes additional parent interviews.
In collaboration with Dr.Birgit Alteheld, Institute of Nutrional Sciences of the university of Bonn, Germany the following effect is explored: Effect of a 4 week therapy with AZT on synthesis of lipoproteins as well as Docosahexaen and other fatty acids in patients with Cystic Fibrosis (CF). Moreover proinflammatory cytokines in blood and sputum are of interest.
Isolation of nontuberculous mycobacteria (NTM) from the sputum of individuals with CF is an increasingly common finding, and the lack of an evidenced-based approach to treatment of NTM disease has been identified as one of the greatest unmet needs within the CF community. Current evidence predicts that the prevalence of NTM will remain relatively high in the CF population. Approaches to NTM disease treatment differ widely between centers, and expected outcomes are not known. This study is observational and follows current best practices. The study will help define response to treatment, and collect relevant data associated with treatment of NTM disease to build a framework for future therapeutic trials.
Isolation of nontuberculous mycobacteria (NTM) from the sputum of individuals with CF is an increasingly common finding, and the lack of an evidenced-based approach to the diagnosis of NTM disease has been identified as one of the greatest unmet needs within the CF community. Current evidence predicts that the prevalence of NTM will remain relatively high in the CF population. Approaches to NTM disease diagnosis differ widely between centers. This study is observational and follows current best practices. The study will help standardize the diagnosis and collect relevant data associated with the diagnosis of NTM disease to build a framework for future therapeutic trials.
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.
This research is being done to find the genes and other factors that are responsible for differences among persons with cystic fibrosis. We are particularly interested in the factors that relate to the development of Cystic Fibrosis Related Diabetes (CFRD).