Active clinical trials for "Cystic Fibrosis"

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.

This study is designed to compare the capabilities of two novel imaging techniques: polarized perfluorinated gas mixed with oxygen, and hyperpolarized xenon mixed with N2 to detect changes in lung ventilation using MRI.

The primary aim of the study is to evaluate upper extremity exercise capacity, muscle oxygenation, balance and physical activity level in patients with cystic fibrosis.. The secondary aim of the study is assessment of functional exercise capacity, respiratory function, peripheral and respiratory muscle strength, respiratory muscle endurance, quality of life in patients with cystic fibrosis and compare them with healthy controls.

With this retrospective observational cohort study, we performed a longitudinal assessment of the renal function of the adult CF patients who underwent LUTX, aiming 1) to describe possible risk factors associated with perioperative AKI and 2) to describe AKI short and long term effects on clinical outcomes.

The study aims to investigate the sustainability of Bottle-PEP in patients with cystic fibrosis

Preliminary evaluation of an obstacle alerting system to enhance the user's independent mobility by improving their confidence to drive and their safety in driving a powered wheelchair.

The purpose of this study; The COVID-19 pandemic is to investigate the effects of COVID-19 fear levels of patients with cystic fibrosis on the psychosocial and quality of life levels of individuals.

The purpose of this trial is to evaluate if the use of a newly developed lipid formulation versus fish oil would better enable the absorption of essential fatty acids after 12 weeks of supplementation.

In the general population, age of puberty, and age of menarche in girls, are closely correlated with those of their mother. The severity of chronic disease has an impact on the stature, the weight gain and the onset of puberty: age of menarche is even later that chronic illness is serious. Cystic fibrosis is one of the major chronic diseases of children. Neonatal screening is organized since 2002, most girls with cystic fibrosis therefore currently have a very specialized and early care. Older patients were diagnosed during childhood. The optimization of the nutritional and respiratory management has allowed over the past two decades a significant improvement in the survival of these patients. Most young people reach adulthood, puberty and reproductive desire are a crucial issue in the care of these young adults. In literature, it is often noted an age of menarche delayed an average of 2 years compared to the general population, but correlated with the age of menstruation from the mothers. The factors involved in the conduct of cycles in the girl followed for cystic fibrosis are poorly known and there are few data on the characteristics of cycles. The menstrual irregularity and amenorrhoea episodes concern nearly half of women. On the pathophysiological level, studies in animals show that there is a direct effect of CFTR (Cystic Fibrosis Transmembrane Regulator) on the hypothalamic pituitary gonadal and reproductive capacity in mice. The literature data on the pubertal development, fertility and hormonal profile of these girls are for studies with low numbers and are very old. There is to date no French cohort study on this topic. The study is a multicenter cross-sectional descriptive study for pubertal and gynecological characteristics in girls followed annually in the reference centers Cystic Fibrosis two inter-region.

To describe the effectiveness of Kalydeco® treatment in patients with cystic fibrosis (CF) who have 1 of 8 non G551D gating CFTR mutations (G178R, S549N, S549R, G551S, G1244E, S1251N, S1255P, or G1349D).