Cystic fibrosis (CF) is a genetic disorder caused by loss—of—function mutations in the CFTR gene, which encodes for the CFTR protein. CFTR is a chloride ion channel that regulates fluid transport in the lung. Defects in CFTR cause the accumulation of mucus in the small airways, which then get infected and inflammed. Loss of CFTR function is also detrimental for the normal functioning of the pancreas, intestines and sweat glands. Patients with CF need to take many drugs including mucolytic and antibiotic agents and also digestive enzymes to replace the loss of exocrine pancreatic function. In the last five years, small molecules able to correct or potentiate the CFTR function have been taken to the clinic and at least one, Kalydeco, is now commercially available for the treatment of a rare form of the disease.
On a global level between the years 2005 and 2010 the global market for CF therapeutics grew from $622.9 million to $1094.4 million which corresponds to a compound annual growth rate of 12%. It is predicted to reach $2047.9 million by year 2018. These estimates were based on 70,000 patients and did not consider the possible under reporting outside Europe and North America.
In Canada, approximately 4,000 individuals with CF attend one of the 42 specialized CF clinics with an estimated cost of 30,000$ per patient (as compared to 70,000$ in US). It suggests that CF therapeutics cost the Canadian Health care system approximately $120 million.
As an orphan disease CF development has development benefits in the US and Europe.
COPD is the 3rd leading cause of death in the U.S. Contrary to CF, it is not a genetic disease but rather a progressive respiratory disorder consisting of chronic bronchitis and/or emphysema. The majority of COPD cases result from the accumulated oxidative insults of cigarette smoke possibly leading to a progressive loss of CFTR function.