Revised 8-26-94 
the lungs of individuals with CF, it is reasonable to expect that this may 
also be achieved in the lung cells of individuals with CF when these cells are 
still in the lung. The hope is, that this may then compensate for the lack of 
a normal gene in the lung cells of these individuals. There is no guarantee 
that this will occur or that if it does it will make a difference in the lung 
function, general clinical status, or prognosis of individuals participating 
in the protocol. 
Overview of Cystic Fibrosis 
Cystic fibrosis is a common disorder affecting 1 in every 2000 births in Cau- 
casians. It is acquired by receiving abnormal, instead of normal, CFTR genes 
from both parents. The median survival age of individuals with this disorder 
is 28 years. This means that 50% of people with cystic fibrosis will die be- 
fore the age of 28. Lung disease is the major site of illness throughout the 
lives of most cystic fibrosis patients, and ninety percent of the deaths in 
cystic fibrosis result from lung disease. Current therapies to treat the res- 
piratory manifestations of CF include frequent chest percussion, an aerosol- 
ized medication called DNase, and physiotherapy to cough up the thick mucus 
and antibiotic therapy to reduce infections. Applications of these therapies 
and rigorous attention to a good diet have helped individuals with CF live 
longer. You are now receiving the best presently available therapy for your 
lung disease. 
New therapies for the respiratory manifestations of CF are being evaluated at 
this institution and elsewhere. Proteins which can protect the lung from being 
"chewed up" by enzymes released by inflammatory cells in the CF lung such as 
alpha 1-antitrypsin are also being evaluated. Initial studies show that they 
decrease inflammation in the lung. Amiloride, a medicine which alters the flow 
of salt and water in and out of cells, has also been administered directly to 
the lung. While the results of these therapies are encouraging, the results 
are all preliminary. These medicines are not approved for general use, and 
they do not correct the basic defect which causes CF (the gene abnormality). 
A more radical approach to CF therapy is lung transplantation. Through 1991, 
lung transplantation procedures have been carried out in 312 individuals with 
CF worldwide. Overall, there has been a 3 year survival rate of approximately 
52%, that is, approximately one-half of the individuals undergoing these pro- 
cedure will be alive 3 years later. While this procedure effectively cures the 
lung abnormalities of CF, the patient is left with a number of significant 
problems. The transplanted or original lung may become reinfected with bacter- 
ia from the nasal sinuses. Also, the patient will have to receive medicine to 
prevent the body reacting against the new lung for the rest of their life 
because of a significant risk of transplant rejection. Perhaps more sig- 
nificant is the fact that there is a very small pool of lungs available for 
transplantation. At any given time the usual waiting period for donors is 9 to 
12 months. 
Overview of Protocol 
Because CF is a hereditary disorder with an identified genetic defect and be- 
cause most of its clinical manifestations are the branching structure that 
carries air from the voice box to the air sacs, it is reasonable to try to 
Recombinant DNA Research, Volume 20 
