Cystic fibrosis is the most common fatal genetic disease in the United States. Those with cystic fibrosis are faced with a life of deadly lung infections, persistant cough, and poor growth. Receiving the diagnosis is heart breaking for sufferers’ families, as only 47% of them will live past the age of 18.
Just recently, the FDA approved Kalydeco, a new drug to treat a specific subset of cystic fibrosis patients. This drug specifically targets the G551D mutation which is found in only 4% of CF sufferers. Although this is the minority of the population, it can be the difference between life and death. The G551D mutation creates a defective protein that fails to balance the absorbtion and secreation of water and chloride ions across cell membranes. This leads to the buildup of thick mucus in the lungs, digestive tract, and other internal organs, which in turn causes severe repiratory and digestive problems as well as infections and diabetes.
Kalydeco improves lung function and minimizes infection by restoring proper protein activity. It is the most effective medicine, because it addresses the root cause of cystic fibrosis, not just the symptoms. Children and adolescents who receive treatment are able to do sports or go away to college, which would be virtually impossible otherwise.
This is one of the first drugs made to target a specific genetic defect. Scientists have known about this faulty gene since 1989, but have only recently had the technology to treat it. As Kalydeco is ‘personalized’, it is not effective if a patient has a different mutation. However, it gives hope because there may soon be a treatment developed for their mutation also.
Video Interview: http://www.myfoxboston.com/dpp/news/local/fda-approves-new-drug-to-fight-cystic-fibrosis-20120131
Posted by Erica Fitzpatrick (1)