Cystic fibrosis (CF) is an inherited, chronic and progressive disease characterized by the excessive production of mucus that tends to clog the airways and provoke multiple lung complications. The disease is caused by a defect in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which compromises the normal function of the secretory glands. In healthy patients, mucus is a slippery and watery substance, but in CF patients it is sticky and thick.
Lungs, pancreas, liver, intestines, sinuses, and sex organs are the main organs affected by the disease. In the lungs, the airways become clogged, patients experience difficulty breathing and they become susceptible to bacterial infections. Despite the fact that there is no cure for CF, research has led to the development of various treatments which in turn has increased life expectancy from 10 years old nearly a half century ago, to 37.5 years old today.
How Is Cystic Fibrosis Research Conducted
Through decades, numerous institutes, centers, and organizations have enabled key research achievements. Among them is the National Heart, Lung, and Blood Institute (NHLBI), part of the National Institutes of Health (NIH). According to the NHLBI, the institute has led investigations that resulted in a better understanding of the disease, its causes and complications, as well as CF treatments.
The Cystic Fibrosis Foundation (CFF) is currently the worldwide leader in the search for a cure for CF patients by funding promising research and working to provide access to quality, specialized care and treatments. CFF works under a venture philanthropy model that provides early stage funding to biotechnology and pharmaceutical companies for the development of breakthrough drugs for adults and children. Almost all CF drugs currently available have been supported by the CFF during development.
The CFF also operates a Research Development Program (RDP) through a network of research centers created to gather top researchers from different disciplines who apply their expertise to the challenges of treating the disease. The first RDP center was created in 1982 at the University of Alabama at Birmingham, but now the network boasts 11 research “hubs” throughout the U.S.
Cystic Fibrosis Research, Inc., another organiztion devoted to find finding a cure, was founded in 1975. The charitable organization funds research, while providing educational and personal support, and spreading awareness of the disease.
Current Cystic Fibrosis Research
The NHLBI is focused on supporting cystic fibrosis research that increases knowledge about the disease. Ongoing studies explore the role of genes in the development of lung disease related to CF; the discovery of different treatment options for lung infections in children with CF; how medicines and other therapies can treat CF while improving quality of life; and details about how the diseases progresses through the lungs.
The CFF is currently supporting ten studies on drugs known as CFTR modulators, which are designed to correct the defective CFTR protein. Other research projects are studying: an anti-infection drug that fights acute and chronic lung infections by destroying infection-causing bacteria that enter into the airways and colonize; two studies for anti-inflammatory drugs designed to reduce inflammation in the lungs – one on nutrition and enzymes, another one on restore airway surface liquid; and a drug that targets proteins other than CFTR to improve the movement of salt in and out of cells and hydration in the body. The organization has three observational studies underway in increase the general knowledge base on CF.
Volunteers also help with research by becoming part of clincal trials. Patients not only gain access to new treatments before they are made public; they get various levels of support from by a team of health care providers who monitor their disease and overall health. Patients who want to volunteer in a clinical trial should seek information from an official patient advocacy organization or sign up for Cystic Fibrosis News Today’s clinical trial notification program.
Note: Cystic Fibrosis News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.