M.J. Welsh and A.E. Smith, RAC Application 
INFORMATION SUMMARY FOR 
INFORMED CONSENT 
TITLE : CYSTIC FIBROSIS GENE THERAPY: 
IN VIVO SAFETY AND EFFICACY IN NASAL EPITHELIUM 
INVESTIGATORS : Michael J. Welsh, M.D. 
Joseph Zabner, M.D. 
Devra P. Rich, Ph.D. 
Scott M. Graham, M.D. 
1. INTRODUCTION AND PROCEDURES : 
During the course of treatment of your disease, you have learned that cystic fibrosis is a 
serious genetic disease that causes the airways of the lung to fill with thick mucus. This 
situation leads to frequent infections which in turn cause destructive changes in the lung 
and increasing problems with breathing. The basic problem is a defect in a gene that is 
responsible for producing a protein called the cystic fibrosis transmembrane conductance 
regulator or CFTR. This protein regulates salt balance in the airways of the lungs; when 
the protein is not normal, excessive thick mucus is produced. Antibiotics have been 
helpful and are used to treat the infections that result from this problem. Various ways to 
clear the mucus, such as chest physical therapy, are also useful to treat cystic fibrosis. 
However, none of these treatments correct the basic problem. Thus, despite all efforts, the 
problem in the lungs usually worsens with time. 
la. This study involves research in gene therapy for cvstic fibrosis. The ultimate purpose of 
the research is to find a better treatment for cystic fibrosis. In this study we will examine 
the possibility, and safety, of correcting the basic genetic defect by applying an altered 
virus unto the cells of the airway in cystic fibrosis patients. 
lb. You are being invited to participate in this research because you have cystic fibrosis and 
because your disease is of mild to moderate severity. After enrolling into the study you 
will be monitored for a period of at least six weeks before the treatment, approximately 
two to three weeks in the hospital immediately after the treatment, and eight weeks after 
discharge from the hospital. 
lc. If vou agr ee to participate, these procedures will be followed. 
An extensive evaluation will be performed that includes a complete physical exam, X- 
rays of your chest, computed tomography X-rays of your sinuses, and pulmonary 
function tests. Blood will be drawn from your vein and artery (total of about 1 cup) for 
multiple studies. We will also determine whether you have imm unity to adenovirus, so 
that we know that you already have protection against the virus. By collecting specimens 
of nasal secretions, stool, and urine, we will also determine that you do not already have 
the natural type of adenovirus in your body. The specific genes for cystic fibrosis which 
you carry in your chromosomes will be determined from a blood sample. We will also 
measure the voltage that normally exists across the cells that line your nose. The lining 
of a small part of your nose will be brushed with a tiny brush to collect some of your 
cells. You will be evaluated with these tests when you enter the study. You will then be 
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