Informed Consen 
#838.0 
FRED HUTCHINSON CANCER RESEARCH CENTER 
AND THE UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE 
DEPARTMENT OF MEDICINE, DIVISION OF ONCOLOGY i 
Consent to Participate in a study on Retrovirus-Mediated Transfer of the cDNA for Human 
Glucocerebrosidase into Peripheral Blood Repopulating Cells of Patients with Gaucher’s Disease. 
Principal Investigator: Friedrich Schuening, M.D., Assistant Member, FHCRC (667-4410). 
Associates: Jean Sanders, M.D., Professor of Pediatrics, UW, Member, FHCRC (667-4348); C. Ronald 
Scott, M.D., Professor of Pediatrics, UW (548-3370); Rainer Storb, M.D., Professor of Medicine, UW, 
Member, FHCRC (667-4407); A. Dusty Miller, Ph.D., Affiliate Associate Professor of Pathology, UW, 
Member, FHCRC (667-2890); John A. Barranger, M.D., Ph.D., Professor of Pediatrics, University of 
Pittsburgh; William Bensinger, M.D., Associate Professor of Medicine, UW, Associate Member, 
FHCRC; Scott Rowley, M.D., Associate Member, FHCRC; Ted Gooley, Ph.D., Assistant Member 
FHCRC; Hans-Peter Kiem, M.D., Fellow, FHCRC; Christof von Kalle, M.D., Visiting Scientist, 
FHCRC; Fred Appelbaum, M.D., Professor of Medicine, Member, FHCRC. 
Phone: Working Hours (206) 667-4410; Emergency (24 hour) Phone: 667-5001 
Attending physician: Phone: 
BACKGROUND 
Gaucher’s disease is caused by a missing gene in your body. A gene is the part of a chromosome 
(hereditary material) that contains the information needed by cells to make proteins. The gene which is 
missing in your body is responsible for producing an enzyme called glucocerebrosidase or GC for short. 
The purpose of the GC enzyme is to break down a lipid or "fat" in the cells of your body. If GC is 
missing, this lipid accumulates in the cells of the body, mainly in the cells of the spleen, liver and bone 
marrow. The accumulation of the lipid in the spleen and the liver often causes these organs to become 
very large. A large spleen can cause bleeding because more platelets, which are necessary to prevent 
bleeding, are being destroyed in the enlarged spleen. Enlargement of the liver can reduce the normal 
function of the liver. A large liver and spleen can make breathing more difficult. The accumulation of 
lipid in the bone marrow can cause bone pain, deformities and fractures of bones. 
Currently two forms of treatment are available for patients with Gaucher’s disease. One form is bone 
marrow transplantation. Marrow cells are obtained from a brother or sister that does not have 
Gaucher’s disease and that has the same type of tissue markers as the patient. Transplantation of 
marrow obtained from such a "matched" sibling is often successful in improving the problems of 
Gaucher’s disease. However, only about 1 of every 4 patients will have such a "matched" sibling donor. 
In addition there is about a 10-20% chance of dying from complications of the marrow transplant 
procedure. 
The second form of treatment currently available for patients with Gaucher’s disease is to give the 
missing enzyme GC to the patient in form of the medication "Ceredase". This treatment is safe and 
effective, but it needs to be continued for the entire life of a patient. Most of all, this medication is 
very expensive, costing about $100,000-$400,000 per patient per year depending on the patients body 
weight. It is therefore necessary to look for new forms of treatment of Gaucher’s disease which are 
safe and affordable. 
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Recombinant DNA Research, Volume 18 
