Informed Consent 
INFORMED CONSENT FOR RESEARCH PROTOCOL FOR CHLA 
THE INSERTION OF THE HUMAN GLUCOCEREBROSIDASE GENE 
INTO THE STEM CELLS OF PATIENTS WITH GAUCHER DISEASE 
BACKGROUND AND PURPOSE 
Gaucher Disease is a genetic disorder caused by the absence 
of a specific gene from the body. The gene is responsible for 
producing an enzyme called glucocerebrosidase (GC) . Patients 
with Gaucher Disease do not have this enzyme in their body. The 
absence of the enzyme causes the body to accumulate certain waste 
products, called glucocerebrosides , which can damage the body. 
These waste products can accumulate in many parts of the body, 
most markedly in the spleen, liver, and bone marrow. The 
involvement of the spleen often results in an extremely large 
spleen, which can cause severe problems, such as anemia, 
bleeding, and a susceptibility to infection. Bone marrow 
involvement can cause bone pain, bone deformities, and bone 
fractures. Liver involvement can lead to liver failure. The 
enlarged spleen and liver may make breathing more difficult. 
Other organs besides liver, bone marrow and spleen can be 
affected. The heart can be overworked pumping large amounts of 
blood to the enlarged organs. The skin can also be affected. 
Over the past twenty years, there has been a great deal of 
research into the treatment of Gaucher Disease. One form of 
treatment is Bone Marrow Transplantation, using bone marrow from 
a brother or sister that does not have Gaucher disease. Bone 
Marrow Transplantation is often successful in reversing or 
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Recombinant DNA Research, Volume 17 
