It is an autosomal recessive disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR). When the CFTR ceases to function, it affects the secretion of digestive fluids, mucus and sweat.
Cystic Fibrosis is a multi-system disease affecting organs and tissues where CFTR is expressed. The most common clinical features are exocrine pancreatic insufficiency, mucus discharge from the lungs, bronchiectasis with chronic airway infection, leading to respiratory failure and premature death. Mucus also clogs the pancreas, which stops enzymes reaching food in the gut and helping with digestion. It is also related to other conditions, including diabetes, osteoporosis, infertility in males, and liver problems.
Those with Cystic Fibrosis are prescribed antibiotics throughout their life, either by mouth or using inhaled antibiotic therapy. Bronchodilator and steroids are also used to relax and reduce inflammation in the airways. Physical activity and the use of airway clearance techniques can also help clear mucus from the lungs. Emerging therapies include CFTR modulators help improve the function of the faulty CFTR protein.
This guideline covers the planning and management of end of life and palliative care in for infants, children and young people (aged 0-17 years) with life-limiting conditions. It aims to involve children, young people and their families...
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Vertex Pharmaceuticals Incorporated announced the FDA approved Kalydeco (ivacaftor) for use in children with cystic fibrosis (CF) ages four months to less than six months old who have at least one mutation in their cystic fibrosis transmembrane conductance regulator (CFTR) gene that is responsive to Kalydeco based on clinical and/or in vitro assay data. Kalydeco is already approved in the U.S. and EU for the treatment of CF in patients ages six months and older.
Vertex Pharmaceuticals Incorporated announced the European Medicines Agency (EMA) has validated a Type II Variation Marketing Authorization Application (MAA) for the expanded indication of Kaftrio (ivacaftor/tezacaftor/elexacaftor) in combination with ivacaftor to treat CF in patients ages 12 years and older with at least one copy of the F508del mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Vertex Pharmaceuticals Incorporated announced that the European Commission (EC) has granted marketing authorization for Kaftrio (ivacaftor/tezacaftor/elexacaftor) in a combination regimen with ivacaftor to treat people with cystic fibrosis (CF) ages 12 years and older with one F508del mutation and one minimal function mutation (F/MF), or two F508del mutations (F/F) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.