Cystic Fibrosis


Cystic fibrosis (CF) is a life-threatening genetic disease affecting an estimated 85,000 children and adults worldwide and is the most common inherited lethal condition in populations of Northern European descent. The CF treatment market is the largest among rare/Orphan diseases and according to GlobalData the worldwide cost of treatment is anticipated to exceed $7.5B by 2025. In patients with CF a spectrum of genetic changes of varying severity affect the cystic fibrosis transmembrane conductance regulator (CFTR), an ion channel protein found in specialized epithelial cells throughout the body. Loss of CFTR-driven secretion of chloride and bicarbonate results in epithelial surface changes and, characteristically, overproduction of abnormally viscous and stiff secreted mucus. As a consequence of these underlying defects the continuous clearance and transport of mucus is impaired and patients develop the chronic cycle of pulmonary infection and inflammation which is a hallmark of CF disease. Manifestations of CF may also affect other organ systems such as the pancreatic ducts and male reproductive tract which can cause infertility and digestive abnormalities. However, it is the chronic upper and lower respiratory tract infection and inflammation leading to bronchiectasis and end-stage lung disease which is responsible for nearly all CF fatalities, usually before age 40.