Cystic fibrosis is a genetic disease that causes an increase in mucus production because of a genetic mutation at the cellular level. This mutation increases the amount of mucus production that negatively impacts primarily the lungs, liver, pancreas and digestive tracts.
Today, there is no cure for cystic fibrosis. While researchers and physicians are well aware of the reason, or cause, of the disease, they continue to work towards preventative measures before birth and the possibility of gene therapy after birth in order to effectively cure the disease.
There has been major progress in research into cystic fibrosis in the past 15 years. In 1989 researchers identified a genetic mutation that specifically causes cystic fibrosis and since then, scientists have been working on ways to insert copies of a normal gene into cells of the respiratory tract, the bodily system which is most significantly impacted.
The challenge in inserting copies of a normal gene, has been to find reliable way to deliver the material that lines the airway. Several methods have been developed, including modified viruses, fat capsules and synthetic vectors. Clinical trials are currently under way to test the effectiveness of all of the delivery systems in hopes of finding one that will effectively deliver a copy of a normal gene into the cells that line the lung and eliminates the symptoms and signs of cystic fibrosis in the lungs.
Researchers have reported in The American Journal of Respiratory and Critical Care Medicine, 2008, that they have successfully prevented cystic fibrosis lung disease in an animal model. This is one of the last steps before drug treatments may be used in human clinical trials. (1)
In this study researchers used an inhaled treatment of amiloride into the lungs of mice during their first days of life. These mice subsequently did not develop thick mucus in the lungs and airway and there was no chronic lung damage. Researchers believe that amiloride will inhibit the hyperactive sodium channels and prevents the mucous membranes from drying out.
While this study has a great deal of promise in preventing the possibility of the development of cystic fibrosis most affected children do not show the first symptoms until several months of age. At that point prevention therapy is no longer effective.
Starting in May 2008 a pilot project for newborn screening for cystic fibrosis was initiated to determine the efficacy of identifying incidents at an early stage in order to deliver the medication when it can be used most effectively. Patients who might be identified by newborn screening could benefit from prophylactic inhalation therapy and improve the quality and length of their lives as well as decrease the medical cost to insurance companies, communities and families.
In a another study researchers believe they may have found a way of inserting a copy of a good gene into the DNA of the respiratory system. In the past, while efforts has been successful in the results have been leading because the viruses are quickly attacked by the body\’s immune system. Now, scientists have been able to create a stronger virus that has no side effects and is capable of resisting the body\’s defenses.
Human trials have already begun on using fatty substances to transfer the genes and are being requested using the more virulent virus for a gene transfer. The scientists modified a virus which is carried by 90% of the population into an infectious form that is 100 times stronger than it normally is. This new virus enters the lung cells and is better at evading the body\’s natural defense system. Researchers are hoping to test this virus in animal models prior to requesting testing in clinical trials on humans.
Both the preventative therapies at the infancy stage and the gene replacement therapies for children and adults offer individuals with cystic fibrosis additional hope for the effective control of their disease and the eradication of the complications and side effects they often suffer.
(1) IDIBAPS: Treatment for Idiopathic Pulmonary Fibrosis Successful in Animal Model
American Journal of Respiratory and Critical Care Medicine, 2008
RESOURCES
American Journal of Respiratory Care and Critical Care medicine
New England Journal of Medicine: A CFTR Potentiator in Patients with Cystic Fibrosis