Cystic fibrosis remains the most common fatal genetic disease in Europe. Advanced medical treatment has raised the average life span to 30 years. Treatments so far manage acute symptoms and slow the disease progression. Gene therapy may open the door for further progress.
Disease: Cystic Fibrosis
Last update: June 2008
Intro
FAQ: What can be done about it?
Daily physiotherapy is required to loosen mucus and ensure that the lungs remain clear. Other treatment is designed to manage the symptoms and slow down the progress of disease complications such as damage to the lungs and pancreas. Antibiotics, vitamins and pancreatic enzyme preparations are often prescribed.
An important development has been the use of an enzyme which helps thin the mucus in the lungs. Patients almost inevitably develop diabetes that has to be controlled through medication.
An important development has been the use of an enzyme which helps thin the mucus in the lungs. Patients almost inevitably develop diabetes that has to be controlled through medication.
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What is it?
Cystic Fibrosis results from a defect in a single gene that makes a protein called CFTR ('cystic fibrosis transmembrane conductance regulator'). This defect results in the secretion of thick, sticky mucus in the lungs and glands of the body. It is the most common fatal hereditary disease in Caucasians. -
Who gets it?
CF affects 1 in 2,500 live births.
Daily physiotherapy is required to loosen mucus and ensure that the lungs remain clear. Other treatment is designed to manage the symptoms and slow down the progress of disease complications such as damage to the lungs and pancreas. Antibiotics, vitamins and pancreatic enzyme preparations are often prescribed. -
What can be done about it?
Daily physiotherapy is required to loosen mucus and ensure that the lungs remain clear. Other treatment is designed to manage the symptoms and slow down the progress of disease complications such as damage to the lungs and pancreas. Antibiotics, vitamins and pancreatic enzyme preparations are often prescribed.
An important development has been the use of an enzyme which helps thin the mucus in the lungs. Patients almost inevitably develop diabetes that has to be controlled through medication. -
What does the future hold?
Research is underway on an inhaled form of a particular protein which is lacking in the lungs of CF patients. Research also continues into an alternative to existing pancreatic enzyme preparations and, into a small 'repair' molecule which binds to the defective CFTR protein and improves its function.
Pseudomonas aeruginosa is a bacterium which commonly infects the lungs of patients with CF. It often develops resistance to many antibiotics. An inhaled antibiotic to combat it is now available. A major step forward has been the publication of the complete genetic structure of Pseudomonas. This is an important tool in the development of new therapies against it. A new vaccine against Pseudomonas is also being developed.
Gene therapy, where a normal version of the CFTR gene is inserted into the lungs and digestive system, is a feasible approach but much more research is needed to turn it into a viable therapy.